100	ADA	C0002170	Alopecia	0.2	0	0	HPO
100	ADA	C0002880	Autoimmune hemolytic anemia	0.2	0	0	HPO
100	ADA	C0004096	Asthma	0.21105290517153	0	0	HPO
100	ADA	C0004352	Autistic Disorder	0.208645876648242	1	0	CTD_human
100	ADA	C0011606	Exfoliative dermatitis	0.2	0	0	HPO
100	ADA	C0011991	Diarrhea	0.2	0	0	HPO
100	ADA	C0013604	Edema	0.2	0	0	HPO
100	ADA	C0014457	Eosinophilia	0.2	0	0	HPO
100	ADA	C0015967	Fever	0.2	0	0	HPO
100	ADA	C0019209	Hepatomegaly	0.2	0	0	HPO
100	ADA	C0020452	Hyperemia	0.202681755307501	2	0	CTD_human
100	ADA	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
100	ADA	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
100	ADA	C0024312	Lymphopenia	0.204879569581206	0	0	HPO
100	ADA	C0030469	Paranasal Sinus Diseases	0.2	0	0	HPO
100	ADA	C0032285	Pneumonia	0.200274726784213	0	0	HPO
100	ADA	C0033774	Pruritus	0.2	0	0	HPO
100	ADA	C0037199	Sinusitis	0.2	0	0	HPO
100	ADA	C0037928	Spinal Cord Diseases	0.2	1	0	CTD_human
100	ADA	C0038002	Splenomegaly	0.2	0	0	HPO
100	ADA	C0079731	B-Cell Lymphomas	0.2	0	0	HPO
100	ADA	C0085110	Severe Combined Immunodeficiency	0.230429160513024	0	0	HPO
100	ADA	C0151908	Dry skin	0.2	0	0	HPO
100	ADA	C0162538	Immunoglobulin A deficiency (disorder)	0.2	0	0	HPO
100	ADA	C0231246	Failure to gain weight	0.2	0	0	HPO
100	ADA	C0236175	Elevated IgE	0.2	0	0	HPO
100	ADA	C0239989	Decreased IgM	0.2	0	0	HPO
100	ADA	C0242584	Autoimmune thrombocytopenia	0.2	0	0	HPO
100	ADA	C0259817	Xerosis	0.2	0	0	HPO
100	ADA	C0268747	Diffuse mesangial sclerosis (disorder)	0.2	0	0	HPO
100	ADA	C0334008	Pachyderma	0.2	0	0	HPO
100	ADA	C0392607	Severe combined immunodeficiency due to adenosine deaminase deficiency	0.410164891015885	0	0	CTD_human;ORPHANET
100	ADA	C0398650	Immune thrombocytopenic purpura	0.2	0	0	HPO
100	ADA	C0401151	Chronic diarrhea	0.2	0	0	HPO
100	ADA	C0427546	Atypical lymphocyte observed	0.2	0	0	HPO
100	ADA	C0497156	Lymphadenopathy	0.2	0	0	HPO
100	ADA	C0685894	Congenital absence of thymus	0.2	0	0	HPO
100	ADA	C0920163	Idiopathic thrombocytopenia	0.2	0	0	HPO
100	ADA	C1837066	Recurrent viral infections	0.2	0	0	HPO
100	ADA	C1842714	Desquamation of skin soon after birth	0.2	0	0	HPO
100	ADA	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
100	ADA	C1844384	Recurrent fungal infections	0.2	0	0	HPO
100	ADA	C1844704	Platyspondyly	0.2	0	0	HPO
100	ADA	C1846154	Anterior rib cupping	0.2	0	0	HPO
100	ADA	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
100	ADA	C1855067	Low B cell count	0.2	0	0	HPO
100	ADA	C1863236	SCID Due to ADA Deficiency, Early-Onset	0.28	10	37	UNIPROT
100	ADA	C1863246	Absent specific antibody response	0.2	0	0	HPO
100	ADA	C1863715	Absent B cells	0.2	0	0	HPO
100	ADA	C1866227	Somatic mosaicism	0.2	0	0	HPO
100	ADA	C2266639	Absence of eyebrows	0.2	0	0	HPO
100	ADA	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
100	ADA	C2700553	Omenn Syndrome	0.200274726784213	0	0	ORPHANET
100	ADA	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
100	ADA	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
100	ADA	C3714497	Reactive airway disease	0.2	0	0	HPO
100	ADA	C4020824	Absence of B cells	0.2	0	0	HPO
100	ADA	C4020846	Prone to bacterial infection	0.2	0	0	HPO
100	ADA	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
100	ADA	C4020878	Diffusely thickened skin	0.2	0	0	HPO
100	ADA	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
100	ADA	C4021545	Immunoglobulin IgG2 deficiency	0.2	0	0	HPO
100	ADA	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
100	ADA	C4022544	Reduced red cell adenosine deaminase activity	0.2	0	0	HPO
1000	CDH2	C0027627	Neoplasm Metastasis	0.201648360705279	1	0	CTD_human
1000	CDH2	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1000	CDH2	C0038220	Status Epilepticus	0.2	1	0	CTD_human
1000	CDH2	C0038356	Stomach Neoplasms	0.202732912464814	1	0	CTD_human
1000	CDH2	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10000	AKT3	C0014544	Epilepsy	0.200274726784213	0	0	HPO
10000	AKT3	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10000	AKT3	C0020255	Hydrocephalus	0.2	0	0	HPO
10000	AKT3	C0020534	Orbital separation excessive	0.2	0	0	HPO
10000	AKT3	C0025362	Mental Retardation	0.2	0	0	HPO
10000	AKT3	C0026034	Microstomia	0.2	0	0	HPO
10000	AKT3	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
10000	AKT3	C0036572	Seizures	0.200274726784213	0	0	HPO
10000	AKT3	C0221355	Macrocephaly	0.201373633921065	0	0	HPO
10000	AKT3	C0239676	High forehead	0.2	0	0	HPO
10000	AKT3	C0241074	Skin hyperelastic	0.2	0	0	HPO
10000	AKT3	C0263401	Cutis marmorata	0.2	0	0	HPO
10000	AKT3	C0266464	Polymicrogyria	0.2	0	0	HPO
10000	AKT3	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
10000	AKT3	C0423113	Telecanthus	0.2	0	0	HPO
10000	AKT3	C0423903	Low intelligence	0.2	0	0	HPO
10000	AKT3	C0431391	Hemimegalencephaly	0.401373633921066	0	0	HPO;ORPHANET
10000	AKT3	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
10000	AKT3	C0917816	Mental deficiency	0.2	0	0	HPO
10000	AKT3	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10000	AKT3	C1843367	Poor school performance	0.2	0	0	HPO
10000	AKT3	C1863924	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	0.2	1	0	CTD_human
10000	AKT3	C1955869	Malformations of Cortical Development	0.200549453568426	1	0	CTD_human
10000	AKT3	C2677762	Tall forehead	0.2	0	0	HPO
10000	AKT3	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10000	AKT3	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10000	AKT3	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
10000	AKT3	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
10000	AKT3	C4014738	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2	0.2	3	4	UNIPROT
10000	AKT3	C4020876	Dull intelligence	0.2	0	0	HPO
10000	AKT3	C4020968	Abnormal localization of kidney	0.2	0	0	HPO
10000	AKT3	C4025252	Abnormal nasal morphology	0.2	0	0	HPO
10000	AKT3	C4083076	Increased head circumference	0.2	0	0	HPO
10000	AKT3	C4255213	Increased size of skull	0.2	0	0	HPO
10000	AKT3	C4280495	Concave bridge of nose	0.2	0	0	HPO
10000	AKT3	C4280663	Increased size of cranium	0.2	0	0	HPO
10000	AKT3	C4280664	Big calvaria	0.2	0	0	HPO
10002	NR2E3	C0017601	Glaucoma	0.2	0	0	HPO
10002	NR2E3	C0018777	Conductive hearing loss	0.2	0	0	HPO
10002	NR2E3	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10002	NR2E3	C0018975	Hemeralopia	0.2	0	0	HPO
10002	NR2E3	C0020459	Hyperinsulinism	0.2	0	0	HPO
10002	NR2E3	C0020619	Hypogonadism	0.2	0	0	HPO
10002	NR2E3	C0022578	Keratoconus	0.2	0	0	HPO
10002	NR2E3	C0025362	Mental Retardation	0.2	0	0	HPO
10002	NR2E3	C0028077	Night Blindness	0.200549453568426	0	0	HPO
10002	NR2E3	C0028738	Nystagmus	0.2	0	0	HPO
10002	NR2E3	C0028754	Obesity	0.2	0	0	HPO
10002	NR2E3	C0029089	Ophthalmoplegia	0.2	0	0	HPO
10002	NR2E3	C0029124	Optic Atrophy	0.2	0	0	HPO
10002	NR2E3	C0035334	Retinitis Pigmentosa	0.41433527120477	0	0	HPO;ORPHANET
10002	NR2E3	C0085636	Photophobia	0.2	0	0	HPO
10002	NR2E3	C0086543	Cataract	0.2	0	0	HPO
10002	NR2E3	C0152439	Retinoschisis	0.2	0	0	HPO
10002	NR2E3	C0154850	Cystoid macular retinal degeneration	0.2	0	0	HPO
10002	NR2E3	C0155016	Color Blindness, Red-Green	0.2	0	0	HPO
10002	NR2E3	C0155017	Color Blindness, Blue	0.2	0	0	HPO
10002	NR2E3	C0240897	Retinal exudates	0.2	0	0	HPO
10002	NR2E3	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
10002	NR2E3	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10002	NR2E3	C0271051	Macular retinal edema	0.2	0	0	HPO
10002	NR2E3	C0271215	Blindness, Legal	0.2	0	0	HPO
10002	NR2E3	C0339541	Goldmann-Favre syndrome (disorder)	0.201373633921065	0	0	ORPHANET
10002	NR2E3	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
10002	NR2E3	C0423903	Low intelligence	0.2	0	0	HPO
10002	NR2E3	C0456909	Blind Vision	0.2	0	0	HPO
10002	NR2E3	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10002	NR2E3	C0917816	Mental deficiency	0.2	0	0	HPO
10002	NR2E3	C1510497	Lens Opacities	0.2	0	0	HPO
10002	NR2E3	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10002	NR2E3	C1833999	Pigmentary retinal degeneration	0.2	0	0	HPO
10002	NR2E3	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10002	NR2E3	C1840077	Anteverted nostril	0.2	0	0	HPO
10002	NR2E3	C1843367	Poor school performance	0.2	0	0	HPO
10002	NR2E3	C1849367	Nasal bridge wide	0.2	0	0	HPO
10002	NR2E3	C1849394	Enhanced S-Cone Syndrome	0.486318716036901	7	7	CTD_human;UNIPROT
10002	NR2E3	C1855685	Extinguished electroretinogram	0.2	0	0	HPO
10002	NR2E3	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10002	NR2E3	C1970163	RETINITIS PIGMENTOSA 37 (disorder)	0.4	2	3	CTD_human;UNIPROT
10002	NR2E3	C1970167	Blue/yellow color vision defect	0.2	0	0	HPO
10002	NR2E3	C1970168	Red/green color vision defect	0.2	0	0	HPO
10002	NR2E3	C3714756	Intellectual Disability	0.2	0	0	HPO
10002	NR2E3	C4020876	Dull intelligence	0.2	0	0	HPO
10002	NR2E3	C4020885	Difficulties with night vision	0.2	0	0	HPO
10002	NR2E3	C4020887	Photodysphoria	0.2	0	0	HPO
10002	NR2E3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10002	NR2E3	C4021570	Undetectable light- and dark-adapted electroretinogram	0.2	0	0	HPO
10002	NR2E3	C4021786	Atypical scarring of skin	0.2	0	0	HPO
10002	NR2E3	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
10002	NR2E3	C4024818	Night blindness, progressive	0.2	0	0	HPO
10007	GNPDA1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10008	KCNE3	C0018790	Cardiac Arrest	0.2	0	0	HPO
10008	KCNE3	C0042510	Ventricular Fibrillation	0.2	0	0	HPO
10008	KCNE3	C0238357	Hyperkalemic periodic paralysis	0.200824180352639	0	0	CTD_human
10008	KCNE3	C0238358	Hypokalemic periodic paralysis	0.200549453568426	0	0	ORPHANET
10008	KCNE3	C0476403	Electromyogram abnormal	0.2	0	0	HPO
10008	KCNE3	C0520886	ST segment elevation (finding)	0.2	0	0	HPO
10008	KCNE3	C1142166	Brugada Syndrome (disorder)	0.200274726784213	0	0	ORPHANET
10008	KCNE3	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
10008	KCNE3	C1855520	Hyperglycemia, Postprandial	0.2	0	0	HPO
10008	KCNE3	C1855580	Exercise-induced muscle fatigue	0.2	0	0	HPO
10008	KCNE3	C2751089	Brugada Syndrome 6	0.2	0	0	CTD_human
10008	KCNE3	C3714580	Hypokalemic periodic paralysis type 1	0.200549453568426	0	0	CTD_human
10008	KCNE3	C4020730	Increased intramyocellular lipid droplets	0.2	0	0	HPO
10008	KCNE3	C4021553	Periodic hypokalemic paresis	0.2	0	0	HPO
10008	KCNE3	C4022754	Episodic hypokalemia	0.2	0	0	HPO
10008	KCNE3	C4025572	Episodic flaccid weakness	0.2	0	0	HPO
1001	CDH3	C0009324	Ulcerative Colitis	0.202407028523288	1	0	CTD_human
1001	CDH3	C0011334	Dental caries	0.2	0	0	HPO
1001	CDH3	C0013575	Ectodermal Dysplasia	0.2	0	0	HPO
1001	CDH3	C0020678	Hypotrichosis	0.205205453522732	0	0	HPO
1001	CDH3	C0024437	Macular degeneration	0.2	0	0	HPO
1001	CDH3	C0027339	Nail Diseases	0.2	0	0	HPO
1001	CDH3	C0029927	Ovarian Cysts	0.2	1	0	CTD_human
1001	CDH3	C0035309	Retinal Diseases	0.2	0	0	HPO
1001	CDH3	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1001	CDH3	C0039075	Syndactyly	0.2	0	0	HPO
1001	CDH3	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1001	CDH3	C0158113	Contracture of joint of hand	0.2	0	0	HPO
1001	CDH3	C0221352	Syndactyly of fingers	0.2	0	0	HPO
1001	CDH3	C0221373	Claw hand	0.2	0	0	HPO
1001	CDH3	C0234632	Reduced visual acuity	0.2	0	0	HPO
1001	CDH3	C0240340	Microdontia (disorder)	0.2	0	0	HPO
1001	CDH3	C0262444	Dental abnormalities	0.2	0	0	HPO
1001	CDH3	C0263490	Brittle hair	0.2	0	0	HPO
1001	CDH3	C0263491	Pili Torti	0.2	0	0	HPO
1001	CDH3	C0265554	Ectrodactyly	0.200274726784213	0	0	HPO
1001	CDH3	C0271215	Blindness, Legal	0.2	0	0	HPO
1001	CDH3	C0349588	Short stature	0.2	0	0	HPO
1001	CDH3	C0423867	Fine hair	0.2	0	0	HPO
1001	CDH3	C0431448	Absent eyebrow	0.2	0	0	HPO
1001	CDH3	C0456909	Blind Vision	0.2	0	0	HPO
1001	CDH3	C0578682	Madarosis of eyebrow	0.2	0	0	HPO
1001	CDH3	C0685409	Congenital Camptodactyly	0.2	0	0	HPO
1001	CDH3	C0730290	Cone dystrophy	0.2	0	0	HPO
1001	CDH3	C0730292	Macular dystrophy	0.202472541057918	0	0	HPO
1001	CDH3	C0853087	Nail abnormality	0.2	0	0	HPO
1001	CDH3	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1001	CDH3	C1832162	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY	0.6	1	3	CTD_human;ORPHANET;UNIPROT
1001	CDH3	C1832446	Sparse eyebrow	0.2	0	0	HPO
1001	CDH3	C1837087	Macular pigmentary changes	0.2	0	0	HPO
1001	CDH3	C1843300	Sparse eyelashes	0.2	0	0	HPO
1001	CDH3	C1844813	Widely spaced teeth	0.2	0	0	HPO
1001	CDH3	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
1001	CDH3	C1857041	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	0.600824180352639	1	2	CTD_human;ORPHANET;UNIPROT
1001	CDH3	C1857042	Sparse scalp hair	0.2	0	0	HPO
1001	CDH3	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1001	CDH3	C1862863	Sparse body hair	0.2	0	0	HPO
1001	CDH3	C1970308	Selective tooth agenesis	0.2	0	0	HPO
1001	CDH3	C1970705	Fragile hair	0.2	0	0	HPO
1001	CDH3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1001	CDH3	C4024756	Abnormality of macular pigmentation	0.2	0	0	HPO
1001	CDH3	C4025846	Abnormality of vision	0.2	0	0	HPO
1001	CDH3	C4072827	Cone/cone-rod dystrophy	0.2	0	0	HPO
1001	CDH3	C4072837	Fractured hair	0.2	0	0	HPO
1001	CDH3	C4280251	Absence of a tooth	0.2	0	0	HPO
1001	CDH3	C4280581	Aplasia of eyebrows	0.2	0	0	HPO
1001	CDH3	C4280582	Agenesis of eyebrows	0.2	0	0	HPO
1001	CDH3	C4280611	Decreased size of teeth	0.2	0	0	HPO
1001	CDH3	C4280612	Decreased width of tooth	0.2	0	0	HPO
1001	CDH3	C4280623	Rotting teeth	0.2	0	0	HPO
10010	TANK	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
100124700	HOTAIR	C0027643	Neoplasm Recurrence, Local	0.2	1	0	CTD_human
100124700	HOTAIR	C0038356	Stomach Neoplasms	0.200549453568426	1	0	CTD_human
100124700	HOTAIR	C2239176	Liver carcinoma	0.201098907136852	1	0	CTD_human
100126572	GJE1	C0031117	Peripheral Neuropathy	0.200274726784213	1	0	CTD_human
100128927	ZBTB42	C4015686	LETHAL CONGENITAL CONTRACTURE SYNDROME 6	0.200274726784213	1	1	UNIPROT
10013	HDAC6	C0011570	Mental Depression	0.2	2	0	PSYGENET
10013	HDAC6	C0011581	Depressive disorder	0.2	1	0	PSYGENET
10013	HDAC6	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10013	HDAC6	C0020255	Hydrocephalus	0.2	0	0	HPO
10013	HDAC6	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10013	HDAC6	C0025202	melanoma	0.200549453568426	1	0	CTD_human
10013	HDAC6	C0026010	Microphthalmos	0.2	0	0	HPO
10013	HDAC6	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10013	HDAC6	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10013	HDAC6	C0221354	Frontal bossing	0.2	0	0	HPO
10013	HDAC6	C0239234	Low set ears	0.2	0	0	HPO
10013	HDAC6	C0265290	Metaphyseal chondrodysplasia	0.2	0	0	HPO
10013	HDAC6	C0349588	Short stature	0.2	0	0	HPO
10013	HDAC6	C0426414	Small nose	0.2	0	0	HPO
10013	HDAC6	C0426818	Thin rib	0.2	0	0	HPO
10013	HDAC6	C0432073	Defect of skull ossification	0.2	0	0	HPO
10013	HDAC6	C0919267	ovarian neoplasm	0.2	1	0	CTD_human
10013	HDAC6	C1386048	Intrauterine retardation	0.2	0	0	HPO
10013	HDAC6	C1834980	Metaphyseal cupping of proximal phalanges	0.2	0	0	HPO
10013	HDAC6	C1840307	Distal shortening of limbs	0.2	0	0	HPO
10013	HDAC6	C1842876	Depressed nasal ridge	0.2	0	0	HPO
10013	HDAC6	C1843108	Short hands	0.2	0	0	HPO
10013	HDAC6	C1844704	Platyspondyly	0.2	0	0	HPO
10013	HDAC6	C1844947	Death in early childhood	0.2	0	0	HPO
10013	HDAC6	C1847879	X-linked dominant	0.2	0	0	HPO
10013	HDAC6	C1848673	Hypoplastic feet	0.2	0	0	HPO
10013	HDAC6	C1854114	Short nose	0.2	0	0	HPO
10013	HDAC6	C1855171	Metaphyseal cupping of metacarpals	0.2	0	0	HPO
10013	HDAC6	C1858430	Death in infancy	0.2	0	0	HPO
10013	HDAC6	C1865027	Hypoplastic iliac wing	0.2	0	0	HPO
10013	HDAC6	C1866730	Rhizomelia	0.2	0	0	HPO
10013	HDAC6	C3275476	CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	0.2	0	0	ORPHANET
10013	HDAC6	C3550873	Hypoplastic calcaneus	0.2	0	0	HPO
10013	HDAC6	C4024689	Abnormality of the calcaneus	0.2	0	0	HPO
10013	HDAC6	C4083076	Increased head circumference	0.2	0	0	HPO
10013	HDAC6	C4255213	Increased size of skull	0.2	0	0	HPO
10013	HDAC6	C4280533	Decreased calcification of skull	0.2	0	0	HPO
10013	HDAC6	C4280625	Decreased size of eyeball	0.2	0	0	HPO
10013	HDAC6	C4280663	Increased size of cranium	0.2	0	0	HPO
10013	HDAC6	C4280664	Big calvaria	0.2	0	0	HPO
10013	HDAC6	C4280808	Abnormally small eyeball	0.2	0	0	HPO
100130890	TSTD3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
100131801	PET100	C0023264	Leigh Disease	0.200549453568426	0	0	ORPHANET
100133941	CD24	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
100133941	CD24	C0026769	Multiple Sclerosis	0.211993755216112	0	0	CTD_human
100134444	KCNJ18	C0268446	Thyrotoxic periodic paralysis	0.200824180352639	0	0	ORPHANET
100134444	KCNJ18	C2750473	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2	0.4	1	5	CTD_human;UNIPROT
10014	HDAC5	C0001546	Adjustment Disorders	0.2	1	0	CTD_human
10014	HDAC5	C0011570	Mental Depression	0.2	2	0	PSYGENET
10014	HDAC5	C0011581	Depressive disorder	0.28	2	0	PSYGENET
10014	HDAC5	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
10014	HDAC5	C0236736	Cocaine-Related Disorders	0.2	1	0	CTD_human
10014	HDAC5	C0340543	Familial primary pulmonary hypertension	0.2	1	0	CTD_human
10014	HDAC5	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
10015	PDCD6IP	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10016	PDCD6	C0011573	Endogenous depression	0.2	1	0	PSYGENET
10018	BCL2L11	C0008313	Cholangitis, Sclerosing	0.2	1	0	CTD_human
100187828	HBD	C0271985	Delta-Beta Thalassemia	0.2	0	0	ORPHANET
10019	SH2B3	C0007570	Celiac Disease	0.209144173059356	0	0	CTD_human
10019	SH2B3	C0008031	Chest Pain	0.2	0	0	HPO
10019	SH2B3	C0011854	Diabetes Mellitus, Insulin-Dependent	0.210727021230004	0	0	CTD_human
10019	SH2B3	C0012833	Dizziness	0.2	0	0	HPO
10019	SH2B3	C0015672	Fatigue	0.2	0	0	HPO
10019	SH2B3	C0018681	Headache	0.2	0	0	HPO
10019	SH2B3	C0020538	Hypertensive disease	0.203231208875927	0	0	HPO
10019	SH2B3	C0021368	Inflammation	0.2	1	0	CTD_human
10019	SH2B3	C0024141	Lupus Erythematosus, Systemic	0.202681755307501	1	0	CTD_human
10019	SH2B3	C0026987	Myelofibrosis	0.2	0	0	HPO
10019	SH2B3	C0027022	Myeloproliferative disease	0.201923087489492	0	0	HPO
10019	SH2B3	C0027051	Myocardial Infarction	0.405088783830789	1	0	CTD_human;HPO
10019	SH2B3	C0030554	Paresthesia	0.2	0	0	HPO
10019	SH2B3	C0038002	Splenomegaly	0.2	0	0	HPO
10019	SH2B3	C0040028	Thrombocythemia, Essential	0.200274726784213	0	0	ORPHANET
10019	SH2B3	C0042487	Venous Thrombosis	0.2	0	0	HPO
10019	SH2B3	C0042571	Vertigo	0.2	0	0	HPO
10019	SH2B3	C0042900	Vitiligo	0.2	1	0	CTD_human
10019	SH2B3	C0149793	Amaurosis Fugax	0.2	0	0	HPO
10019	SH2B3	C0151529	Bleeding time prolonged	0.2	0	0	HPO
10019	SH2B3	C0151942	Arterial thrombosis	0.2	0	0	HPO
10019	SH2B3	C0221347	Acrocyanosis	0.2	0	0	HPO
10019	SH2B3	C0231807	Dyspnea on exertion	0.2	0	0	HPO
10019	SH2B3	C0232370	Florid red complexion (finding)	0.2	0	0	HPO
10019	SH2B3	C0239935	Hematocrit increased	0.2	0	0	HPO
10019	SH2B3	C0349639	Juvenile Myelomonocytic Leukemia	0.2	1	0	CTD_human
10019	SH2B3	C0497247	Increase in blood pressure	0.2	0	0	HPO
10019	SH2B3	C0544886	Somatic mutation	0.2	0	0	HPO
10019	SH2B3	C0549448	Hemoglobin increased	0.2	0	0	HPO
10019	SH2B3	C0553692	Brain hemorrhage	0.2	0	0	HPO
10019	SH2B3	C0836924	Thrombocytosis	0.2	0	0	HPO
10019	SH2B3	C0855742	Platelet morphology abnormal	0.2	0	0	HPO
10019	SH2B3	C0857460	Increased number of platelets	0.2	0	0	HPO
10019	SH2B3	C0917805	Transient Cerebral Ischemia	0.2	0	0	HPO
10019	SH2B3	C1849749	Peripheral thrombosis	0.2	0	0	HPO
10019	SH2B3	C1853288	Increased red blood cell mass	0.2	0	0	HPO
10019	SH2B3	C1855853	Impaired platelet aggregation	0.2	0	0	HPO
10019	SH2B3	C1956346	Coronary Artery Disease	0.200549453568426	1	1	CTD_human
10019	SH2B3	C2937358	Cerebral Hemorrhage	0.2	0	0	HPO
10019	SH2B3	C4021790	Abnormality of the skeletal system	0.2	0	0	HPO
10019	SH2B3	C4025187	Increased megakaryocyte count	0.2	0	0	HPO
10020	GNE	C0014544	Epilepsy	0.2	0	0	HPO
10020	GNE	C0019209	Hepatomegaly	0.2	0	0	HPO
10020	GNE	C0019294	Hernia, Inguinal	0.2	0	0	HPO
10020	GNE	C0020534	Orbital separation excessive	0.2	0	0	HPO
10020	GNE	C0020676	Hypothyroidism	0.2	0	0	HPO
10020	GNE	C0036572	Seizures	0.2	0	0	HPO
10020	GNE	C0037315	Sleep Apnea Syndromes	0.2	0	0	HPO
10020	GNE	C0037932	Curvature of spine	0.2	0	0	HPO
10020	GNE	C0038002	Splenomegaly	0.2	0	0	HPO
10020	GNE	C0085684	Foot-drop	0.2	0	0	HPO
10020	GNE	C0151576	Elevated creatine kinase	0.2	0	0	HPO
10020	GNE	C0221354	Frontal bossing	0.2	0	0	HPO
10020	GNE	C0221629	Proximal muscle weakness	0.2	0	0	HPO
10020	GNE	C0238190	Inclusion Body Myositis (disorder)	0.202956482091714	1	0	CTD_human
10020	GNE	C0239234	Low set ears	0.2	0	0	HPO
10020	GNE	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10020	GNE	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
10020	GNE	C0342853	Sialuria	0.401373633921066	3	8	CTD_human;UNIPROT
10020	GNE	C0427063	Shoulder girdle weakness	0.2	0	0	HPO
10020	GNE	C0427065	Distal muscle weakness	0.2	0	0	HPO
10020	GNE	C0427149	Gait, Drop Foot	0.2	0	0	HPO
10020	GNE	C0429349	EMG positive sharp waves	0.2	0	0	HPO
10020	GNE	C0431447	Synophrys	0.2	0	0	HPO
10020	GNE	C0432040	Simple syndactyly of toes, first web space	0.2	0	0	HPO
10020	GNE	C0432355	Hypoplasia of nipple	0.2	0	0	HPO
10020	GNE	C0557874	Global developmental delay	0.2	0	0	HPO
10020	GNE	C0558845	Reflex, Ankle, Absent	0.2	0	0	HPO
10020	GNE	C0575081	Gait abnormality	0.2	0	0	HPO
10020	GNE	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10020	GNE	C0700208	Acquired scoliosis	0.2	0	0	HPO
10020	GNE	C0748691	Shoulder weakness	0.2	0	0	HPO
10020	GNE	C1142533	Smooth philtrum	0.2	0	0	HPO
10020	GNE	C1263846	Attention deficit hyperactivity disorder	0.2	0	0	HPO
10020	GNE	C1404521	Limb-girdle myopathy	0.2	0	0	HPO
10020	GNE	C1833373	Inclusion Body Myopathy, Autosomal Recessive	0.201098907136852	1	37	CTD_human
10020	GNE	C1837260	Prominent forehead	0.2	0	0	HPO
10020	GNE	C1837482	Thoracic hypoplasia	0.2	0	0	HPO
10020	GNE	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
10020	GNE	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10020	GNE	C1842552	Limb-girdle muscle atrophy	0.2	0	0	HPO
10020	GNE	C1843700	Variation in muscle fiber size	0.2	0	0	HPO
10020	GNE	C1845847	Coarse facial features	0.2	0	0	HPO
10020	GNE	C1848736	Distal amyotrophy	0.2	0	0	HPO
10020	GNE	C1849211	Generalized hirsutism	0.2	0	0	HPO
10020	GNE	C1849367	Nasal bridge wide	0.2	0	0	HPO
10020	GNE	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
10020	GNE	C1851313	Limited shoulder movement	0.2	0	0	HPO
10020	GNE	C1853562	Adult onset	0.2	0	0	HPO
10020	GNE	C1853926	NONAKA MYOPATHY	0.617857240973852	12	23	CTD_human;ORPHANET;UNIPROT
10020	GNE	C1853932	Rimmed vacuoles on biopsy	0.2	0	0	HPO
10020	GNE	C1853934	Deposits immunoreactive to beta-amyloid protein	0.2	0	0	HPO
10020	GNE	C1854928	Protuberant abdomen	0.2	0	0	HPO
10020	GNE	C1855728	Low posterior hairline	0.2	0	0	HPO
10020	GNE	C1858036	Periorbital fullness	0.2	0	0	HPO
10020	GNE	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
10020	GNE	C1862481	Limited wrist extension	0.2	0	0	HPO
10020	GNE	C1864375	Long hallux	0.2	0	0	HPO
10020	GNE	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
10020	GNE	C1864897	Cognitive delay	0.2	0	0	HPO
10020	GNE	C1865014	Long philtrum	0.2	0	0	HPO
10020	GNE	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
10020	GNE	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
10020	GNE	C1867446	Bulging forehead	0.2	0	0	HPO
10020	GNE	C2931471	Sialuria, French type	0.2	0	0	ORPHANET
10020	GNE	C3279725	Weakness of hip flexors	0.2	0	0	HPO
10020	GNE	C4020875	Mental and motor retardation	0.2	0	0	HPO
10020	GNE	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10020	GNE	C4021082	Fatty replacement of skeletal muscle	0.2	0	0	HPO
10020	GNE	C4021726	EMG: myopathic abnormalities	0.2	0	0	HPO
10020	GNE	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
10020	GNE	C4022159	Muscle fiber inclusion bodies	0.2	0	0	HPO
10020	GNE	C4022169	EMG: myotonic discharges	0.2	0	0	HPO
10020	GNE	C4024612	Tibialis muscle weakness	0.2	0	0	HPO
10020	GNE	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
10021	HCN4	C0004238	Atrial Fibrillation	0.401373633921066	1	1	CTD_human;HPO
10021	HCN4	C0037052	Sick Sinus Syndrome	0.400274726784213	0	0	HPO;ORPHANET
10021	HCN4	C0042514	Tachycardia, Ventricular	0.200274726784213	0	0	HPO
10021	HCN4	C0085610	Sinus bradycardia	0.2	0	0	HPO
10021	HCN4	C0520886	ST segment elevation (finding)	0.2	0	0	HPO
10021	HCN4	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
10021	HCN4	C1142166	Brugada Syndrome (disorder)	0.2	0	0	ORPHANET
10021	HCN4	C1834144	Sick Sinus Syndrome 2, Autosomal Dominant	0.4	3	4	CTD_human;UNIPROT
10021	HCN4	C2751083	Brugada Syndrome 8	0.2	0	0	CTD_human
10021	HCN4	C2752013	Prenatal onset	0.2	0	0	HPO
10025	MED16	C0014175	Endometriosis	0.2	1	0	CTD_human
100270680	CASC11	C0005695	Bladder Neoplasm	0.2	0	0	CTD_human
100288805	HYDIN2	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1003	CDH5	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1003	CDH5	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1003	CDH5	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
1003	CDH5	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1003	CDH5	C0232347	No-Reflow Phenomenon	0.2	1	0	CTD_human
1003	CDH5	C1458155	Mammary Neoplasms	0.205465824929628	1	0	CTD_human
10036	CHAF1A	C0026636	Mouth Diseases	0.2	1	0	CTD_human
10038	PARP2	C0023787	Lipodystrophy	0.2	1	0	CTD_human
1004	CDH6	C0006625	Cachexia	0.2	1	0	CTD_human
10040	TOM1L1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10042	HMGXB4	C0005586	Bipolar Disorder	0.202407028523288	1	0	PSYGENET
10042	HMGXB4	C1839839	MAJOR AFFECTIVE DISORDER 2	0.2	1	0	PSYGENET
10043	TOM1	C0005586	Bipolar Disorder	0.202407028523288	1	0	PSYGENET
10043	TOM1	C1839839	MAJOR AFFECTIVE DISORDER 2	0.2	1	0	PSYGENET
10046	MAMLD1	C0452147	Hypospadias, penoscrotal	0.200274726784213	0	0	HPO
10046	MAMLD1	C0848558	Hypospadias	0.210568964137734	1	0	CTD_human
10046	MAMLD1	C1691215	Penile hypospadias	0.203296721410557	0	0	HPO
10046	MAMLD1	C1845977	X- linked recessive	0.2	0	0	HPO
10046	MAMLD1	C1846169	Myotubular Myopathy with Abnormal Genital Development	0.2	0	0	ORPHANET
10046	MAMLD1	C2677879	Hypospadias 2, X-Linked	0.2	0	0	CTD_human
10046	MAMLD1	C2678098	Hypospadias 1, X-Linked	0.4	0	0	CTD_human;ORPHANET
10048	RANBP9	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10049	DNAJB6	C0011168	Deglutition Disorders	0.2	0	0	HPO
10049	DNAJB6	C0026850	Muscular Dystrophy	0.2	0	0	HPO
10049	DNAJB6	C0151576	Elevated creatine kinase	0.2	0	0	HPO
10049	DNAJB6	C0231712	Waddling gait	0.2	0	0	HPO
10049	DNAJB6	C0234182	Gowers sign	0.2	0	0	HPO
10049	DNAJB6	C0239067	Difficulty walking up stairs	0.2	0	0	HPO
10049	DNAJB6	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
10049	DNAJB6	C0427063	Shoulder girdle weakness	0.2	0	0	HPO
10049	DNAJB6	C0427064	Pelvic girdle weakness	0.2	0	0	HPO
10049	DNAJB6	C0575071	Gowers sign present	0.2	0	0	HPO
10049	DNAJB6	C0686353	Muscular Dystrophies, Limb-Girdle	0.203021994626344	1	0	CTD_human
10049	DNAJB6	C0748691	Shoulder weakness	0.2	0	0	HPO
10049	DNAJB6	C1836057	Muscle fiber splitting	0.2	0	0	HPO
10049	DNAJB6	C1853562	Adult onset	0.2	0	0	HPO
10049	DNAJB6	C1853932	Rimmed vacuoles on biopsy	0.2	0	0	HPO
10049	DNAJB6	C1854494	Slow progression	0.2	0	0	HPO
10049	DNAJB6	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
10049	DNAJB6	C3148763	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	0.400274726784213	2	8	ORPHANET;UNIPROT
100499467	LINC00673	C0030297	Pancreatic Neoplasm	0.2	1	0	CTD_human
1005	CDH7	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1005	CDH7	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1005	CDH7	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
1005	CDH7	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
100506658	OCLN	C0007621	Neoplastic Cell Transformation	0.2	1	0	CTD_human
100506658	OCLN	C0019156	Hepatic Veno-Occlusive Disease	0.2	1	0	CTD_human
100506658	OCLN	C0035309	Retinal Diseases	0.2	1	0	CTD_human
100506658	OCLN	C0038002	Splenomegaly	0.2	1	0	CTD_human
100506658	OCLN	C1458155	Mammary Neoplasms	0.200824180352639	2	0	CTD_human
100506658	OCLN	C2609414	Acute kidney injury	0.2	1	0	CTD_human
100506658	OCLN	C2931662	Baraitser Brett Piesowicz syndrome	0.2	0	0	ORPHANET
100506658	OCLN	C3489725	Pseudo-TORCH syndrome	0.600824180352639	1	4	CTD_human;ORPHANET;UNIPROT
100506742	CASP12	C0011854	Diabetes Mellitus, Insulin-Dependent	0.200274726784213	1	0	CTD_human
100506742	CASP12	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
100506742	CASP12	C0027055	Myocardial Reperfusion Injury	0.2	1	0	CTD_human
100507056	CCAT1	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
100507056	CCAT1	C0016978	gallbladder neoplasm	0.2	1	0	CTD_human
100507056	CCAT1	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
100507056	CCAT1	C0030297	Pancreatic Neoplasm	0.2	1	0	CTD_human
100507056	CCAT1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
100507436	MICA	C0010051	Coronary Aneurysm	0.2	1	0	CTD_human
100507436	MICA	C0029172	Oral Submucous Fibrosis	0.202681755307501	1	0	CTD_human
100507436	MICA	C2239176	Liver carcinoma	0.205769262468475	1	1	CTD_human
10052	GJC1	C0020538	Hypertensive disease	0.2	1	0	CTD_human
10057	ABCC5	C0003873	Rheumatoid Arthritis	0.200274726784213	1	0	CTD_human
10057	ABCC5	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10057	ABCC5	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10058	ABCB6	C0009363	Congenital ocular coloboma (disorder)	0.400549453568426	0	0	HPO;ORPHANET
10058	ABCB6	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10058	ABCB6	C0011053	Deafness	0.2	0	0	HPO
10058	ABCB6	C0016689	Freckles	0.2	0	0	HPO
10058	ABCB6	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10058	ABCB6	C0020461	Hyperkalemia	0.2	0	0	HPO
10058	ABCB6	C0020538	Hypertensive disease	0.2	0	0	HPO
10058	ABCB6	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
10058	ABCB6	C0266551	Congenital coloboma of iris	0.2	0	0	ORPHANET
10058	ABCB6	C0339789	Congenital deafness	0.2	0	0	HPO
10058	ABCB6	C0344516	Coloboma of lens	0.2	0	0	ORPHANET
10058	ABCB6	C0349506	Photosensitivity of skin	0.2	0	0	HPO
10058	ABCB6	C0497247	Increase in blood pressure	0.2	0	0	HPO
10058	ABCB6	C0521573	Coloboma of eyelid	0.2	0	0	ORPHANET
10058	ABCB6	C0677598	Stomatocytosis Result	0.2	0	0	HPO
10058	ABCB6	C1306229	Dyschromatosis universalis	0.2	0	0	ORPHANET
10058	ABCB6	C1384666	hearing impairment	0.2	0	0	HPO
10058	ABCB6	C1836705	Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	0.4	2	3	ORPHANET;UNIPROT
10058	ABCB6	C1842774	Hyperpigmented macules	0.2	0	0	HPO
10058	ABCB6	C1845877	Microphthalmia, Isolated, with Coloboma 1	0.2	0	0	ORPHANET
10058	ABCB6	C1852767	Hereditary macular coloboma	0.2	0	0	ORPHANET
10058	ABCB6	C1861975	Cafe au lait spots, multiple	0.2	0	0	HPO
10058	ABCB6	C3281027	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	0.2	1	2	UNIPROT
10058	ABCB6	C3806178	Spotty hypopigmentation	0.2	0	0	HPO
10058	ABCB6	C3809394	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3	0.2	4	4	UNIPROT
10059	DNM1L	C0001125	Acidosis, Lactic	0.4	1	0	CTD_human;HPO
10059	DNM1L	C0014306	Enophthalmos	0.2	0	0	HPO
10059	DNM1L	C0025958	Microcephaly	0.2	1	0	CTD_human
10059	DNM1L	C0026827	Muscle hypotonia	0.2	0	0	HPO
10059	DNM1L	C0029124	Optic Atrophy	0.4	1	0	CTD_human;HPO
10059	DNM1L	C0085584	Encephalopathies	0.2	0	0	HPO
10059	DNM1L	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10059	DNM1L	C0162666	Mitochondrial Encephalomyopathies	0.2	1	0	CTD_human
10059	DNM1L	C0231246	Failure to gain weight	0.2	0	0	HPO
10059	DNM1L	C0232466	Feeding difficulties	0.2	0	0	HPO
10059	DNM1L	C0234146	Absent reflex	0.2	0	0	HPO
10059	DNM1L	C0235659	Reduced fetal movement	0.2	0	0	HPO
10059	DNM1L	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10059	DNM1L	C0271385	Horizontal Nystagmus	0.2	0	0	HPO
10059	DNM1L	C0278124	Absent tendon reflex	0.2	0	0	HPO
10059	DNM1L	C0347959	Lactic acidemia	0.2	0	0	HPO
10059	DNM1L	C0423224	Sunken eyes	0.2	0	0	HPO
10059	DNM1L	C0424688	Small head	0.2	0	0	HPO
10059	DNM1L	C1844505	Pointed chin	0.2	0	0	HPO
10059	DNM1L	C1844947	Death in early childhood	0.2	0	0	HPO
10059	DNM1L	C1858430	Death in infancy	0.2	0	0	HPO
10059	DNM1L	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10059	DNM1L	C3280660	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	0.4	2	10	ORPHANET;UNIPROT
1006	CDH8	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
10060	ABCC9	C0005744	Blepharophimosis	0.2	0	0	HPO
10060	ABCC9	C0007193	Cardiomyopathy, Dilated	0.205689394556528	0	0	HPO
10060	ABCC9	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
10060	ABCC9	C0014170	Endometrial Neoplasms	0.2	1	0	CTD_human
10060	ABCC9	C0014175	Endometriosis	0.2	1	0	CTD_human
10060	ABCC9	C0017566	Gingival Hyperplasia	0.2	0	0	HPO
10060	ABCC9	C0017567	Gingival Hypertrophy	0.2	0	0	HPO
10060	ABCC9	C0018564	Hand deformities	0.2	0	0	HPO
10060	ABCC9	C0018800	Cardiomegaly	0.2	0	0	HPO
10060	ABCC9	C0019322	Umbilical hernia	0.2	0	0	HPO
10060	ABCC9	C0020534	Orbital separation excessive	0.2	0	0	HPO
10060	ABCC9	C0024236	Lymphedema	0.2	0	0	HPO
10060	ABCC9	C0024421	Macroglossia	0.2	0	0	HPO
10060	ABCC9	C0024433	Macrostomia	0.2	0	0	HPO
10060	ABCC9	C0025990	Micrognathism	0.2	0	0	HPO
10060	ABCC9	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10060	ABCC9	C0029422	Osteochondrodysplasias	0.2	0	0	HPO
10060	ABCC9	C0029456	Osteoporosis	0.2	0	0	HPO
10060	ABCC9	C0031039	Pericardial effusion	0.2	0	0	HPO
10060	ABCC9	C0040412	Fissured tongue	0.2	0	0	HPO
10060	ABCC9	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
10060	ABCC9	C0149630	Bicuspid aortic valve	0.2	0	0	HPO
10060	ABCC9	C0162285	Edema of eyelid	0.2	0	0	HPO
10060	ABCC9	C0235480	Paroxysmal atrial fibrillation	0.200274726784213	0	0	HPO
10060	ABCC9	C0239137	Coxa valga	0.2	0	0	HPO
10060	ABCC9	C0240278	Lymphatic obstruction	0.2	0	0	HPO
10060	ABCC9	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10060	ABCC9	C0240543	Bulbous nose	0.2	0	0	HPO
10060	ABCC9	C0334008	Pachyderma	0.2	0	0	HPO
10060	ABCC9	C0376480	Gingival Overgrowth	0.2	0	0	HPO
10060	ABCC9	C0426790	Narrow thorax	0.2	0	0	HPO
10060	ABCC9	C0426870	Large hand	0.2	0	0	HPO
10060	ABCC9	C0431447	Synophrys	0.2	0	0	HPO
10060	ABCC9	C0521525	Short neck	0.2	0	0	HPO
10060	ABCC9	C0541764	Delayed bone age	0.2	0	0	HPO
10060	ABCC9	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10060	ABCC9	C0795905	Cantu syndrome	0.602747267842131	3	9	CTD_human;ORPHANET;UNIPROT
10060	ABCC9	C0796280	Acromegaloid facial appearance syndrome	0.2	0	0	ORPHANET
10060	ABCC9	C1834118	Potato nose	0.2	0	0	HPO
10060	ABCC9	C1835229	Onset of lymphedema around puberty	0.2	0	0	HPO
10060	ABCC9	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10060	ABCC9	C1836543	Thick vermilion border	0.2	0	0	HPO
10060	ABCC9	C1837260	Prominent forehead	0.2	0	0	HPO
10060	ABCC9	C1837839	CARDIOMYOPATHY, DILATED, 1O	0.4	1	2	CTD_human;UNIPROT
10060	ABCC9	C1839739	Prominent lower lip	0.2	0	0	HPO
10060	ABCC9	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10060	ABCC9	C1839798	Long nose	0.2	0	0	HPO
10060	ABCC9	C1839829	Short distal phalanges	0.2	0	0	HPO
10060	ABCC9	C1840077	Anteverted nostril	0.2	0	0	HPO
10060	ABCC9	C1842060	Prominent supraorbital ridges	0.2	0	0	HPO
10060	ABCC9	C1842366	Low anterior hairline	0.2	0	0	HPO
10060	ABCC9	C1843677	Large sella turcica	0.2	0	0	HPO
10060	ABCC9	C1843687	ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	0.2	0	0	ORPHANET
10060	ABCC9	C1844704	Platyspondyly	0.2	0	0	HPO
10060	ABCC9	C1844809	Thick nasal alae	0.2	0	0	HPO
10060	ABCC9	C1845847	Coarse facial features	0.2	0	0	HPO
10060	ABCC9	C1846423	Thick upper lip vermilion	0.2	0	0	HPO
10060	ABCC9	C1848395	Large for gestational age	0.2	0	0	HPO
10060	ABCC9	C1848654	Broad ribs	0.2	0	0	HPO
10060	ABCC9	C1849039	Metaphyseal widening	0.2	0	0	HPO
10060	ABCC9	C1849211	Generalized hirsutism	0.2	0	0	HPO
10060	ABCC9	C1849367	Nasal bridge wide	0.2	0	0	HPO
10060	ABCC9	C1853246	Everted lower lip vermilion	0.2	0	0	HPO
10060	ABCC9	C1853487	Bushy eyebrows	0.2	0	0	HPO
10060	ABCC9	C1853738	Long eyelashes	0.2	0	0	HPO
10060	ABCC9	C1855665	Ovoid vertebral bodies	0.2	0	0	HPO
10060	ABCC9	C1855728	Low posterior hairline	0.2	0	0	HPO
10060	ABCC9	C1855751	Bulbous nasal tip	0.2	0	0	HPO
10060	ABCC9	C1855889	Widened posterior fossa	0.2	0	0	HPO
10060	ABCC9	C1855895	Erlenmeyer flask femora	0.2	0	0	HPO
10060	ABCC9	C1855899	Broad first metatarsal	0.2	0	0	HPO
10060	ABCC9	C1855900	HYPERTRICHOSIS, CONGENITAL GENERALIZED	0.2	0	0	HPO
10060	ABCC9	C1855901	Congenital hypertrophy of left ventricle	0.2	0	0	HPO
10060	ABCC9	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10060	ABCC9	C1857679	Sloping forehead	0.2	0	0	HPO
10060	ABCC9	C1857953	Deep plantar creases	0.2	0	0	HPO
10060	ABCC9	C1865014	Long philtrum	0.2	0	0	HPO
10060	ABCC9	C1865992	Short hallux	0.2	0	0	HPO
10060	ABCC9	C1866234	Protruding lower lip	0.2	0	0	HPO
10060	ABCC9	C1867131	Broad hallux	0.2	0	0	HPO
10060	ABCC9	C1867446	Bulging forehead	0.2	0	0	HPO
10060	ABCC9	C1868085	Craniofacial hyperostosis	0.2	0	0	HPO
10060	ABCC9	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
10060	ABCC9	C2053437	Full lower lip	0.2	0	0	HPO
10060	ABCC9	C2673653	Cuboid-shaped vertebral bodies	0.2	0	0	HPO
10060	ABCC9	C2673670	Curly eyelashes	0.2	0	0	HPO
10060	ABCC9	C3279695	ATRIAL FIBRILLATION, FAMILIAL, 12	0.2	1	1	UNIPROT
10060	ABCC9	C3549698	Coxa valga deformity	0.2	0	0	HPO
10060	ABCC9	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10060	ABCC9	C3553764	Joint hyperflexibility	0.2	0	0	HPO
10060	ABCC9	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
10060	ABCC9	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
10060	ABCC9	C4020844	Bullet vertebral body	0.2	0	0	HPO
10060	ABCC9	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
10060	ABCC9	C4020878	Diffusely thickened skin	0.2	0	0	HPO
10060	ABCC9	C4021343	Broad hallux phalanx	0.2	0	0	HPO
10060	ABCC9	C4021785	Abnormality of the metacarpal bones	0.2	0	0	HPO
10060	ABCC9	C4024617	Hypoplastic ischiopubic rami	0.2	0	0	HPO
10060	ABCC9	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
10060	ABCC9	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
10060	ABCC9	C4072845	Hyperplasia of hypophysial fossa	0.2	0	0	HPO
10060	ABCC9	C4072846	Large hypophysial fossa	0.2	0	0	HPO
10060	ABCC9	C4083076	Increased head circumference	0.2	0	0	HPO
10060	ABCC9	C4255213	Increased size of skull	0.2	0	0	HPO
10060	ABCC9	C4280495	Concave bridge of nose	0.2	0	0	HPO
10060	ABCC9	C4280516	Thick craniofacial bones	0.2	0	0	HPO
10060	ABCC9	C4280517	Enlargement of craniofacial bones	0.2	0	0	HPO
10060	ABCC9	C4280518	Hypertrophy of craniofacial bones	0.2	0	0	HPO
10060	ABCC9	C4280567	Abnormal skeletal development	0.2	0	0	HPO
10060	ABCC9	C4280636	Hypertrophy of supraorbital ridge	0.2	0	0	HPO
10060	ABCC9	C4280637	Hypertrophy of supraorbital margins	0.2	0	0	HPO
10060	ABCC9	C4280638	Hyperplasia of supraorbital ridge	0.2	0	0	HPO
10060	ABCC9	C4280639	Hyperplasia of supraorbital margins	0.2	0	0	HPO
10060	ABCC9	C4280663	Increased size of cranium	0.2	0	0	HPO
10060	ABCC9	C4280664	Big calvaria	0.2	0	0	HPO
10062	NR1H3	C0008370	Cholestasis	0.2	1	0	CTD_human
10062	NR1H3	C0015695	Fatty Liver	0.201098907136852	1	0	CTD_human
10062	NR1H3	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
10063	COX17	C0019189	Hepatitis, Chronic	0.2	1	0	CTD_human
10063	COX17	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1007	CDH9	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1007	CDH9	C0004352	Autistic Disorder	0.2	1	0	CTD_human
10075	HUWE1	C0023012	Language Delay	0.2	0	0	HPO
10075	HUWE1	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
10075	HUWE1	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10075	HUWE1	C0026351	Moderate mental retardation (I.Q. 35-49)	0.2	0	0	HPO
10075	HUWE1	C0036857	Severe mental retardation (I.Q. 20-34)	0.200274726784213	0	0	HPO
10075	HUWE1	C0233715	Speech impairment	0.2	0	0	HPO
10075	HUWE1	C0241210	Speech Delay	0.2	0	0	HPO
10075	HUWE1	C0423903	Low intelligence	0.2	0	0	HPO
10075	HUWE1	C0426886	Tapering fingers (finding)	0.2	0	0	HPO
10075	HUWE1	C0454644	Delayed speech and language development	0.2	0	0	HPO
10075	HUWE1	C0917816	Mental deficiency	0.2	0	0	HPO
10075	HUWE1	C1843367	Poor school performance	0.2	0	0	HPO
10075	HUWE1	C1845847	Coarse facial features	0.2	0	0	HPO
10075	HUWE1	C1846168	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	0.2	0	0	CTD_human
10075	HUWE1	C1867103	Limited elbow extension	0.2	0	0	HPO
10075	HUWE1	C2678046	Mental Retardation, X-Linked, Syndromic, Turner Type	0.6	1	5	CTD_human;ORPHANET;UNIPROT
10075	HUWE1	C3714756	Intellectual Disability	0.202197814273705	0	0	HPO
10075	HUWE1	C4020876	Dull intelligence	0.2	0	0	HPO
10075	HUWE1	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
10075	HUWE1	C4083076	Increased head circumference	0.2	0	0	HPO
10075	HUWE1	C4255213	Increased size of skull	0.2	0	0	HPO
10075	HUWE1	C4280663	Increased size of cranium	0.2	0	0	HPO
10075	HUWE1	C4280664	Big calvaria	0.2	0	0	HPO
100750225	PCAT1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1008	CDH10	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1008	CDH10	C0004352	Autistic Disorder	0.2	1	0	CTD_human
10082	GPC6	C0005744	Blepharophimosis	0.2	0	0	HPO
10082	GPC6	C0010417	Cryptorchidism	0.2	0	0	HPO
10082	GPC6	C0018817	Atrial Septal Defects	0.2	0	0	HPO
10082	GPC6	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10082	GPC6	C0018916	Hemangioma	0.2	0	0	HPO
10082	GPC6	C0019322	Umbilical hernia	0.2	0	0	HPO
10082	GPC6	C0025990	Micrognathism	0.2	0	0	HPO
10082	GPC6	C0206762	Limb Deformities, Congenital	0.2	1	0	CTD_human
10082	GPC6	C0221354	Frontal bossing	0.2	0	0	HPO
10082	GPC6	C0238397	Pulmonary artery stenosis	0.2	0	0	HPO
10082	GPC6	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10082	GPC6	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10082	GPC6	C0426414	Small nose	0.2	0	0	HPO
10082	GPC6	C0521525	Short neck	0.2	0	0	HPO
10082	GPC6	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10082	GPC6	C1832117	Short upper arms	0.2	0	0	HPO
10082	GPC6	C1832119	Fibular hypoplasia	0.2	0	0	HPO
10082	GPC6	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10082	GPC6	C1839512	Limited knee flexion	0.2	0	0	HPO
10082	GPC6	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10082	GPC6	C1844690	Limited knee extension	0.2	0	0	HPO
10082	GPC6	C1844738	Axillary pterygia	0.2	0	0	HPO
10082	GPC6	C1849367	Nasal bridge wide	0.2	0	0	HPO
10082	GPC6	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
10082	GPC6	C1850259	Short tibia	0.2	0	0	HPO
10082	GPC6	C1850318	Omodysplasia type 1	0.400824180352639	1	2	CTD_human;ORPHANET
10082	GPC6	C1851542	Limited hip movement	0.2	0	0	HPO
10082	GPC6	C1853241	Flat face	0.2	0	0	HPO
10082	GPC6	C1854114	Short nose	0.2	0	0	HPO
10082	GPC6	C1856922	Limited elbow flexion	0.2	0	0	HPO
10082	GPC6	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10082	GPC6	C1858085	Malar flattening	0.2	0	0	HPO
10082	GPC6	C1865014	Long philtrum	0.2	0	0	HPO
10082	GPC6	C1866730	Rhizomelia	0.2	0	0	HPO
10082	GPC6	C1867103	Limited elbow extension	0.2	0	0	HPO
10082	GPC6	C1968605	Limited elbow flexion/extension	0.2	0	0	HPO
10082	GPC6	C1968606	Limited knee flexion/extension	0.2	0	0	HPO
10082	GPC6	C1968607	Hypoplastic distal humeri	0.2	0	0	HPO
10082	GPC6	C1968610	Anterior/lateral radial head dislocation	0.2	0	0	HPO
10082	GPC6	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10082	GPC6	C3805420	Popliteal pterygium	0.2	0	0	HPO
10082	GPC6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10082	GPC6	C4021100	Increased fibular diameter	0.2	0	0	HPO
10082	GPC6	C4280495	Concave bridge of nose	0.2	0	0	HPO
10082	GPC6	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
100820829	MYZAP	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
10083	USH1C	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10083	USH1C	C0018784	Sensorineural Hearing Loss (disorder)	0.200549453568426	0	0	HPO
10083	USH1C	C0018979	Hemianopsia	0.2	0	0	HPO
10083	USH1C	C0025362	Mental Retardation	0.2	0	0	HPO
10083	USH1C	C0028077	Night Blindness	0.2	0	0	HPO
10083	USH1C	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	HPO
10083	USH1C	C0036341	Schizophrenia	0.2	0	0	HPO
10083	USH1C	C0036454	Scotoma	0.2	0	0	HPO
10083	USH1C	C0086543	Cataract	0.2	0	0	HPO
10083	USH1C	C0154920	Pigmentary iris degeneration	0.2	0	0	HPO
10083	USH1C	C0344233	Retinal blind spot	0.2	0	0	HPO
10083	USH1C	C0423903	Low intelligence	0.2	0	0	HPO
10083	USH1C	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10083	USH1C	C0557874	Global developmental delay	0.2	0	0	HPO
10083	USH1C	C0917816	Mental deficiency	0.2	0	0	HPO
10083	USH1C	C1510497	Lens Opacities	0.2	0	0	HPO
10083	USH1C	C1568247	Usher Syndrome, Type I	0.202197814273705	0	0	ORPHANET
10083	USH1C	C1843367	Poor school performance	0.2	0	0	HPO
10083	USH1C	C1848606	Vestibular hypofunction	0.2	0	0	HPO
10083	USH1C	C1854301	Motor delay	0.2	0	0	HPO
10083	USH1C	C1855685	Extinguished electroretinogram	0.2	0	0	HPO
10083	USH1C	C1864897	Cognitive delay	0.2	0	0	HPO
10083	USH1C	C1865866	Congenital sensorineural hearing loss	0.2	0	0	HPO
10083	USH1C	C1865870	Deafness, Autosomal Recessive 18	0.28	0	0	CTD_human
10083	USH1C	C2931207	Usher syndrome, type 1C	0.200274726784213	1	0	CTD_human
10083	USH1C	C3279222	Cerebellar hypoplasia and atrophy	0.2	0	0	HPO
10083	USH1C	C3665386	Abnormal vision	0.2	0	0	HPO
10083	USH1C	C3714756	Intellectual Disability	0.2	0	0	HPO
10083	USH1C	C4020874	No development of motor milestones	0.2	0	0	HPO
10083	USH1C	C4020875	Mental and motor retardation	0.2	0	0	HPO
10083	USH1C	C4020876	Dull intelligence	0.2	0	0	HPO
10083	USH1C	C4020885	Difficulties with night vision	0.2	0	0	HPO
10083	USH1C	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10083	USH1C	C4024656	Absent vestibular function	0.2	0	0	HPO
10083	USH1C	C4024665	High-grade hypermetropia	0.2	0	0	HPO
10083	USH1C	C4025858	Abnormality of cochlea	0.2	0	0	HPO
10084	PQBP1	C0003466	Anus, Imperforate	0.2	0	0	HPO
10084	PQBP1	C0003467	Anxiety	0.200274726784213	0	0	HPO
10084	PQBP1	C0003706	Arachnodactyly	0.2	0	0	HPO
10084	PQBP1	C0008925	Cleft Palate	0.2	0	0	HPO
10084	PQBP1	C0009363	Congenital ocular coloboma (disorder)	0.2	0	0	HPO
10084	PQBP1	C0011053	Deafness	0.2	0	0	HPO
10084	PQBP1	C0014544	Epilepsy	0.200274726784213	0	0	HPO
10084	PQBP1	C0018273	Growth Disorders	0.2	2	0	CTD_human
10084	PQBP1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10084	PQBP1	C0018817	Atrial Septal Defects	0.4	1	0	CTD_human;HPO
10084	PQBP1	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10084	PQBP1	C0020490	Hyperopia	0.2	0	0	HPO
10084	PQBP1	C0023882	Little's Disease	0.2	0	0	HPO
10084	PQBP1	C0024421	Macroglossia	0.2	0	0	HPO
10084	PQBP1	C0025362	Mental Retardation	0.202197814273705	0	0	HPO
10084	PQBP1	C0025958	Microcephaly	0.203831819601666	3	0	CTD_human
10084	PQBP1	C0025990	Micrognathism	0.2	0	0	HPO
10084	PQBP1	C0026034	Microstomia	0.2	0	0	HPO
10084	PQBP1	C0026838	Muscle Spasticity	0.2	0	0	HPO
10084	PQBP1	C0036572	Seizures	0.2	0	0	HPO
10084	PQBP1	C0037221	Situs Inversus	0.2	0	0	HPO
10084	PQBP1	C0037773	Spastic Paraplegia, Hereditary	0.2	1	0	CTD_human
10084	PQBP1	C0037932	Curvature of spine	0.2	0	0	HPO
10084	PQBP1	C0038379	Strabismus	0.2	0	0	HPO
10084	PQBP1	C0039685	Tetralogy of Fallot	0.2	0	0	HPO
10084	PQBP1	C0086543	Cataract	0.2	0	0	HPO
10084	PQBP1	C0151889	Hyperreflexia	0.2	0	0	HPO
10084	PQBP1	C0152421	Macrotia	0.2	0	0	HPO
10084	PQBP1	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10084	PQBP1	C0158113	Contracture of joint of hand	0.2	0	0	HPO
10084	PQBP1	C0221260	Dystrophia unguium	0.2	0	0	HPO
10084	PQBP1	C0221356	Brachycephaly	0.2	0	0	HPO
10084	PQBP1	C0235946	Cerebral atrophy	0.2	0	0	HPO
10084	PQBP1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10084	PQBP1	C0240543	Bulbous nose	0.2	0	0	HPO
10084	PQBP1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10084	PQBP1	C0241355	Small testicle	0.2	0	0	HPO
10084	PQBP1	C0263490	Brittle hair	0.2	0	0	HPO
10084	PQBP1	C0266642	Situs ambiguus	0.2	0	0	HPO
10084	PQBP1	C0271215	Blindness, Legal	0.2	0	0	HPO
10084	PQBP1	C0277960	Dry hair	0.2	0	0	HPO
10084	PQBP1	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10084	PQBP1	C0339789	Congenital deafness	0.2	0	0	HPO
10084	PQBP1	C0345326	Congenital phimosis	0.2	0	0	HPO
10084	PQBP1	C0349588	Short stature	0.2	0	0	HPO
10084	PQBP1	C0399526	Class III malocclusion	0.2	0	0	HPO
10084	PQBP1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
10084	PQBP1	C0423903	Low intelligence	0.2	0	0	HPO
10084	PQBP1	C0424688	Small head	0.2	0	0	HPO
10084	PQBP1	C0454555	Hypernasal voice	0.2	0	0	HPO
10084	PQBP1	C0456909	Blind Vision	0.2	0	0	HPO
10084	PQBP1	C0554972	Large auricle	0.2	0	0	HPO
10084	PQBP1	C0557874	Global developmental delay	0.2	0	0	HPO
10084	PQBP1	C0566620	Nasal voice	0.2	0	0	HPO
10084	PQBP1	C0576227	Narrow foot	0.2	0	0	HPO
10084	PQBP1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10084	PQBP1	C0685409	Congenital Camptodactyly	0.2	0	0	HPO
10084	PQBP1	C0700208	Acquired scoliosis	0.2	0	0	HPO
10084	PQBP1	C0728829	Congenital pes cavus	0.2	0	0	HPO
10084	PQBP1	C0796135	Renpenning syndrome 1	0.402472541057918	4	8	CTD_human;UNIPROT
10084	PQBP1	C0917816	Mental deficiency	0.200274726784213	0	0	HPO
10084	PQBP1	C1136249	Mental Retardation, X-Linked	0.211495458804998	2	0	CTD_human
10084	PQBP1	C1305420	Prominent ear	0.2	0	0	HPO
10084	PQBP1	C1384666	hearing impairment	0.2	0	0	HPO
10084	PQBP1	C1510497	Lens Opacities	0.2	0	0	HPO
10084	PQBP1	C1691215	Penile hypospadias	0.2	0	0	HPO
10084	PQBP1	C1834118	Potato nose	0.2	0	0	HPO
10084	PQBP1	C1835581	Large protruding ears	0.2	0	0	HPO
10084	PQBP1	C1835884	Triangular face	0.2	0	0	HPO
10084	PQBP1	C1836047	Long face	0.2	0	0	HPO
10084	PQBP1	C1837142	Poor suck	0.2	0	0	HPO
10084	PQBP1	C1837463	Narrow face	0.2	0	0	HPO
10084	PQBP1	C1837770	Sparse hair	0.2	0	0	HPO
10084	PQBP1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10084	PQBP1	C1843367	Poor school performance	0.2	0	0	HPO
10084	PQBP1	C1844947	Death in early childhood	0.2	0	0	HPO
10084	PQBP1	C1845447	Cupped ears (finding)	0.2	0	0	HPO
10084	PQBP1	C1845977	X- linked recessive	0.2	0	0	HPO
10084	PQBP1	C1848570	Large, floppy ears	0.2	0	0	HPO
10084	PQBP1	C1849121	Thin face	0.2	0	0	HPO
10084	PQBP1	C1849367	Nasal bridge wide	0.2	0	0	HPO
10084	PQBP1	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10084	PQBP1	C1850189	Large pinnae	0.2	0	0	HPO
10084	PQBP1	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
10084	PQBP1	C1855062	Large dysplastic ears	0.2	0	0	HPO
10084	PQBP1	C1855285	Protruding ears	0.2	0	0	HPO
10084	PQBP1	C1855751	Bulbous nasal tip	0.2	0	0	HPO
10084	PQBP1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10084	PQBP1	C1857206	Laterally sparse eyebrows	0.2	0	0	HPO
10084	PQBP1	C1858085	Malar flattening	0.2	0	0	HPO
10084	PQBP1	C1858430	Death in infancy	0.2	0	0	HPO
10084	PQBP1	C1860838	Large prominent ears	0.2	0	0	HPO
10084	PQBP1	C1860844	Thin, sparse hair	0.2	0	0	HPO
10084	PQBP1	C1861324	Short philtrum	0.2	0	0	HPO
10084	PQBP1	C1864897	Cognitive delay	0.2	0	0	HPO
10084	PQBP1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
10084	PQBP1	C1970705	Fragile hair	0.2	0	0	HPO
10084	PQBP1	C2051831	Pectus excavatum	0.2	0	0	HPO
10084	PQBP1	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10084	PQBP1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10084	PQBP1	C3714756	Intellectual Disability	0.203296721410557	0	0	HPO
10084	PQBP1	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10084	PQBP1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10084	PQBP1	C4020876	Dull intelligence	0.2	0	0	HPO
10084	PQBP1	C4020884	Anxiety disease	0.2	0	0	HPO
10084	PQBP1	C4020892	Capuchin ears	0.2	0	0	HPO
10084	PQBP1	C4025763	Abnormality of the rib cage	0.2	0	0	HPO
10084	PQBP1	C4072823	Broad cranium shape	0.2	0	0	HPO
10084	PQBP1	C4072824	Wide skull shape	0.2	0	0	HPO
10084	PQBP1	C4072837	Fractured hair	0.2	0	0	HPO
10084	PQBP1	C4280538	Curvature of little finger	0.2	0	0	HPO
10084	PQBP1	C4280644	Increased size of mandible	0.2	0	0	HPO
10084	PQBP1	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10084	PQBP1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
10085	EDIL3	C0029408	Degenerative polyarthritis	0.200274726784213	1	0	CTD_human
10087	COL4A3BP	C0006325	Bruxism	0.2	0	0	HPO
10087	COL4A3BP	C0007131	Non-Small Cell Lung Carcinoma	0.2	1	0	CTD_human
10087	COL4A3BP	C0011053	Deafness	0.2	0	0	HPO
10087	COL4A3BP	C0013132	Drooling	0.2	0	0	HPO
10087	COL4A3BP	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10087	COL4A3BP	C0025362	Mental Retardation	0.2	0	0	HPO
10087	COL4A3BP	C0037036	Sialorrhea	0.2	0	0	HPO
10087	COL4A3BP	C0038271	Stereotyped Behavior	0.2	0	0	HPO
10087	COL4A3BP	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
10087	COL4A3BP	C0079924	Oligohydramnios	0.2	0	0	HPO
10087	COL4A3BP	C0155320	Blindness, Cortical	0.2	0	0	HPO
10087	COL4A3BP	C0277959	Coarse hair	0.2	0	0	HPO
10087	COL4A3BP	C0332615	Myopathic facies	0.2	0	0	HPO
10087	COL4A3BP	C0339789	Congenital deafness	0.2	0	0	HPO
10087	COL4A3BP	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
10087	COL4A3BP	C0423903	Low intelligence	0.2	0	0	HPO
10087	COL4A3BP	C0431447	Synophrys	0.2	0	0	HPO
10087	COL4A3BP	C0432040	Simple syndactyly of toes, first web space	0.2	0	0	HPO
10087	COL4A3BP	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
10087	COL4A3BP	C0557874	Global developmental delay	0.2	0	0	HPO
10087	COL4A3BP	C0558165	Curly hair (finding)	0.2	0	0	HPO
10087	COL4A3BP	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10087	COL4A3BP	C0856863	Broad-based gait	0.2	0	0	HPO
10087	COL4A3BP	C0917816	Mental deficiency	0.2	0	0	HPO
10087	COL4A3BP	C1142533	Smooth philtrum	0.2	0	0	HPO
10087	COL4A3BP	C1384666	hearing impairment	0.2	0	0	HPO
10087	COL4A3BP	C1827524	Wide spaced nipples	0.2	0	0	HPO
10087	COL4A3BP	C1840077	Anteverted nostril	0.2	0	0	HPO
10087	COL4A3BP	C1843367	Poor school performance	0.2	0	0	HPO
10087	COL4A3BP	C1844813	Widely spaced teeth	0.2	0	0	HPO
10087	COL4A3BP	C1847514	Postnatal microcephaly	0.2	0	0	HPO
10087	COL4A3BP	C1848673	Hypoplastic feet	0.2	0	0	HPO
10087	COL4A3BP	C1853743	Axial hypotonia	0.2	0	0	HPO
10087	COL4A3BP	C1864897	Cognitive delay	0.2	0	0	HPO
10087	COL4A3BP	C1865916	Bilateral ptosis	0.2	0	0	HPO
10087	COL4A3BP	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
10087	COL4A3BP	C3714756	Intellectual Disability	0.2	0	0	HPO
10087	COL4A3BP	C4020875	Mental and motor retardation	0.2	0	0	HPO
10087	COL4A3BP	C4020876	Dull intelligence	0.2	0	0	HPO
10087	COL4A3BP	C4048268	Cortical visual impairment	0.2	0	0	HPO
10087	COL4A3BP	C4072834	Rough hair texture	0.2	0	0	HPO
10087	COL4A3BP	C4225156	MENTAL RETARDATION, AUTOSOMAL DOMINANT 34	0.2	1	0	UNIPROT
1009	CDH11	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	2	0	PSYGENET
10090	UST	C0014175	Endometriosis	0.2	1	0	CTD_human
10095	ARPC1B	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10097	ACTR2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
101	ADAM8	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1010	CDH12	C0001973	Alcoholic Intoxication, Chronic	0.2	2	0	PSYGENET
10102	TSFM	C0001125	Acidosis, Lactic	0.2	0	0	HPO
10102	TSFM	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10102	TSFM	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
10102	TSFM	C0013421	Dystonia	0.2	0	0	HPO
10102	TSFM	C0014544	Epilepsy	0.2	0	0	HPO
10102	TSFM	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10102	TSFM	C0016522	Foramen Ovale, Patent	0.2	0	0	HPO
10102	TSFM	C0019209	Hepatomegaly	0.2	0	0	HPO
10102	TSFM	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10102	TSFM	C0029124	Optic Atrophy	0.2	0	0	HPO
10102	TSFM	C0035410	Rhabdomyolysis	0.2	0	0	HPO
10102	TSFM	C0036572	Seizures	0.2	0	0	HPO
10102	TSFM	C0040822	Tremor	0.2	0	0	HPO
10102	TSFM	C0042798	Low Vision	0.2	0	0	HPO
10102	TSFM	C0085584	Encephalopathies	0.200274726784213	0	0	HPO
10102	TSFM	C0151576	Elevated creatine kinase	0.2	0	0	HPO
10102	TSFM	C0151786	Muscle Weakness	0.2	0	0	HPO
10102	TSFM	C0235659	Reduced fetal movement	0.2	0	0	HPO
10102	TSFM	C0238044	CARDIOMYOPATHY, CONCENTRIC HYPERTROPHIC	0.2	0	0	HPO
10102	TSFM	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
10102	TSFM	C0338656	Impaired cognition	0.2	0	0	HPO
10102	TSFM	C0347959	Lactic acidemia	0.2	0	0	HPO
10102	TSFM	C0557874	Global developmental delay	0.2	0	0	HPO
10102	TSFM	C0683322	Mental impairment	0.2	0	0	HPO
10102	TSFM	C1145670	Respiratory Failure	0.2	0	0	HPO
10102	TSFM	C1386048	Intrauterine retardation	0.2	0	0	HPO
10102	TSFM	C1836440	Increased serum lactate	0.2	0	0	HPO
10102	TSFM	C1837514	Phenotypic variability	0.2	0	0	HPO
10102	TSFM	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10102	TSFM	C1843392	Death in childhood	0.2	0	0	HPO
10102	TSFM	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10102	TSFM	C1864840	Combined Oxidative Phosphorylation Deficiency 3	0.6	2	4	CTD_human;ORPHANET;UNIPROT
10102	TSFM	C1864897	Cognitive delay	0.2	0	0	HPO
10102	TSFM	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10102	TSFM	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
10102	TSFM	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10102	TSFM	C2677650	Decreased mitochondrial complex I activity	0.2	0	0	HPO
10102	TSFM	C3149083	Decreased mitochondrial complex III activity	0.2	0	0	HPO
10102	TSFM	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10102	TSFM	C3665347	Visual Impairment	0.2	0	0	HPO
10102	TSFM	C3887709	Optic Neuropathy	0.2	0	0	HPO
10102	TSFM	C4020738	Respiratory complex III deficiency	0.2	0	0	HPO
10102	TSFM	C4020739	Respiratory complex I deficiency	0.2	0	0	HPO
10102	TSFM	C4020800	Decreased activity of mitochondrial complex IV	0.2	0	0	HPO
10102	TSFM	C4020871	Dystonic disease	0.2	0	0	HPO
10102	TSFM	C4020875	Mental and motor retardation	0.2	0	0	HPO
10102	TSFM	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10105	PPIF	C0021831	Intestinal Diseases	0.2	1	0	CTD_human
10105	PPIF	C0041582	Ulcer	0.2	1	0	CTD_human
10109	ARPC2	C0009324	Ulcerative Colitis	0.208096423079816	1	0	CTD_human
10110	SGK2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
101101692	HELLPAR	C0162739	HELLP Syndrome	0.200274726784213	0	0	ORPHANET
10111	RAD50	C0004096	Asthma	0.201923087489492	1	1	CTD_human
10111	RAD50	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10111	RAD50	C0020490	Hyperopia	0.2	0	0	HPO
10111	RAD50	C0025362	Mental Retardation	0.2	0	0	HPO
10111	RAD50	C0026838	Muscle Spasticity	0.2	0	0	HPO
10111	RAD50	C0349588	Short stature	0.2	0	0	HPO
10111	RAD50	C0423903	Low intelligence	0.2	0	0	HPO
10111	RAD50	C0424688	Small head	0.2	0	0	HPO
10111	RAD50	C0677776	Hereditary Breast and Ovarian Cancer Syndrome	0.2	0	0	ORPHANET
10111	RAD50	C0917816	Mental deficiency	0.2	0	0	HPO
10111	RAD50	C1843367	Poor school performance	0.2	0	0	HPO
10111	RAD50	C2751318	Nijmegen Breakage Syndrome-Like Disorder	0.4	0	0	CTD_human;ORPHANET
10111	RAD50	C3714756	Intellectual Disability	0.2	0	0	HPO
10111	RAD50	C4020876	Dull intelligence	0.2	0	0	HPO
10111	RAD50	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10111	RAD50	C4021206	Chromosomal breakage induced by ionizing radiation	0.2	0	0	HPO
10117	ENAM	C0002452	Amelogenesis Imperfecta	0.413158174887594	2	0	CTD_human;HPO
10117	ENAM	C0399368	Amelogenesis Imperfecta, Type IB	0.480274726784213	2	4	CTD_human;UNIPROT
10117	ENAM	C1863008	Yellow-brown discoloration of the teeth	0.2	0	0	HPO
10117	ENAM	C2673923	Amelogenesis Imperfecta, Type Ic	0.4	2	2	CTD_human;UNIPROT
10117	ENAM	C3665628	Hypomineralization of enamel of tooth	0.2	0	0	HPO
10117	ENAM	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10117	ENAM	C4024598	Anterior open-bite malocclusion	0.2	0	0	HPO
10117	ENAM	C4280253	Increased porosity of tooth enamel	0.2	0	0	HPO
10117	ENAM	C4280460	White spot lesions of tooth enamel	0.2	0	0	HPO
10117	ENAM	C4280461	Fluorosis of tooth enamel	0.2	0	0	HPO
101180976	IFNL4	C1835407	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	0.2	0	0	ORPHANET
1012	CDH13	C0001973	Alcoholic Intoxication, Chronic	0.205088783830789	3	0	PSYGENET
1012	CDH13	C0004763	Barrett Esophagus	0.200274726784213	1	0	CTD_human
1012	CDH13	C0007131	Non-Small Cell Lung Carcinoma	0.201923087489492	1	0	CTD_human
1012	CDH13	C0011570	Mental Depression	0.2	1	0	PSYGENET
1012	CDH13	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1012	CDH13	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1012	CDH13	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
1012	CDH13	C0033578	Prostatic Neoplasms	0.202732912464814	2	0	CTD_human
1012	CDH13	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
1012	CDH13	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1012	CDH13	C2239176	Liver carcinoma	0.209022917747081	2	0	CTD_human
10125	RASGRP1	C0003873	Rheumatoid Arthritis	0.2	1	1	CTD_human
10125	RASGRP1	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
10125	RASGRP1	C0014175	Endometriosis	0.2	1	0	CTD_human
10125	RASGRP1	C0023467	Leukemia, Myelocytic, Acute	0.200824180352639	1	0	CTD_human
10125	RASGRP1	C0024141	Lupus Erythematosus, Systemic	0.280274726784213	1	0	CTD_human
10126	DNAL4	C0454455	Mirror movements disorder	0.200274726784213	0	0	HPO
10126	DNAL4	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10128	LRPPRC	C0001125	Acidosis, Lactic	0.2	0	0	HPO
10128	LRPPRC	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10128	LRPPRC	C0017639	Gliosis	0.2	0	0	HPO
10128	LRPPRC	C0019572	Hirsutism	0.2	0	0	HPO
10128	LRPPRC	C0020456	Hyperglycemia	0.2	0	0	HPO
10128	LRPPRC	C0020534	Orbital separation excessive	0.2	0	0	HPO
10128	LRPPRC	C0020615	Hypoglycemia	0.2	0	0	HPO
10128	LRPPRC	C0023012	Language Delay	0.2	0	0	HPO
10128	LRPPRC	C0026827	Muscle hypotonia	0.2	0	0	HPO
10128	LRPPRC	C0038379	Strabismus	0.2	0	0	HPO
10128	LRPPRC	C0040822	Tremor	0.2	0	0	HPO
10128	LRPPRC	C0231246	Failure to gain weight	0.2	0	0	HPO
10128	LRPPRC	C0231835	Tachypnea	0.2	0	0	HPO
10128	LRPPRC	C0233715	Speech impairment	0.2	0	0	HPO
10128	LRPPRC	C0241210	Speech Delay	0.2	0	0	HPO
10128	LRPPRC	C0338474	Central nervous system demyelination	0.2	0	0	HPO
10128	LRPPRC	C0347959	Lactic acidemia	0.2	0	0	HPO
10128	LRPPRC	C0454644	Delayed speech and language development	0.2	0	0	HPO
10128	LRPPRC	C0557874	Global developmental delay	0.2	0	0	HPO
10128	LRPPRC	C0878575	Peripheral demyelination	0.2	0	0	HPO
10128	LRPPRC	C1167918	CSF lactate increased	0.2	0	0	HPO
10128	LRPPRC	C1836440	Increased serum lactate	0.2	0	0	HPO
10128	LRPPRC	C1837260	Prominent forehead	0.2	0	0	HPO
10128	LRPPRC	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10128	LRPPRC	C1840077	Anteverted nostril	0.2	0	0	HPO
10128	LRPPRC	C1842366	Low anterior hairline	0.2	0	0	HPO
10128	LRPPRC	C1848924	Infantile onset	0.2	0	0	HPO
10128	LRPPRC	C1849367	Nasal bridge wide	0.2	0	0	HPO
10128	LRPPRC	C1850415	Microvesicular steatosis (disorder)	0.2	0	0	HPO
10128	LRPPRC	C1853242	Midface retrusion	0.2	0	0	HPO
10128	LRPPRC	C1857355	Leigh syndrome , French Canadian type	0.601923087489492	1	7	CTD_human;ORPHANET;UNIPROT
10128	LRPPRC	C1858085	Malar flattening	0.2	0	0	HPO
10128	LRPPRC	C1864897	Cognitive delay	0.2	0	0	HPO
10128	LRPPRC	C1867446	Bulging forehead	0.2	0	0	HPO
10128	LRPPRC	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
10128	LRPPRC	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10128	LRPPRC	C2673410	Small midface	0.2	0	0	HPO
10128	LRPPRC	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
10128	LRPPRC	C4020875	Mental and motor retardation	0.2	0	0	HPO
10128	LRPPRC	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10128	LRPPRC	C4025021	Increased hepatocellular lipid droplets	0.2	0	0	HPO
10128	LRPPRC	C4280320	Hypotrophic midface	0.2	0	0	HPO
10128	LRPPRC	C4280321	Decreased projection of midface	0.2	0	0	HPO
10128	LRPPRC	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
10129	FRY	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10129	FRY	C3714756	Intellectual Disability	0.2	1	0	CTD_human
1013	CDH15	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1013	CDH15	C0025362	Mental Retardation	0.2	0	0	HPO
1013	CDH15	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1013	CDH15	C0423903	Low intelligence	0.2	0	0	HPO
1013	CDH15	C0917816	Mental deficiency	0.2	0	0	HPO
1013	CDH15	C1843367	Poor school performance	0.2	0	0	HPO
1013	CDH15	C2675488	Mental Retardation, Autosomal Dominant 3	0.4	1	3	CTD_human;UNIPROT
1013	CDH15	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
1013	CDH15	C4020876	Dull intelligence	0.2	0	0	HPO
10131	TRAP1	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10131	TRAP1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10133	OPTN	C0002736	Amyotrophic Lateral Sclerosis	0.410714344584311	0	0	HPO;ORPHANET
10133	OPTN	C0003467	Anxiety	0.2	0	0	HPO
10133	OPTN	C0011168	Deglutition Disorders	0.2	0	0	HPO
10133	OPTN	C0011581	Depressive disorder	0.2	0	0	HPO
10133	OPTN	C0013362	Dysarthria	0.2	0	0	HPO
10133	OPTN	C0013404	Dyspnea	0.2	0	0	HPO
10133	OPTN	C0015672	Fatigue	0.2	0	0	HPO
10133	OPTN	C0026821	Muscle Cramp	0.2	0	0	HPO
10133	OPTN	C0026838	Muscle Spasticity	0.2	0	0	HPO
10133	OPTN	C0027092	Myopia	0.2	0	0	HPO
10133	OPTN	C0027746	Nerve Degeneration	0.2	0	0	HPO
10133	OPTN	C0029401	Osteitis Deformans	0.201923087489492	1	1	CTD_human
10133	OPTN	C0030193	Pain	0.2	0	0	HPO
10133	OPTN	C0043352	Xerostomia	0.2	0	0	HPO
10133	OPTN	C0085633	Mood swings	0.2	0	0	HPO
10133	OPTN	C0151786	Muscle Weakness	0.2	0	0	HPO
10133	OPTN	C0234958	muscle degeneration	0.2	0	0	HPO
10133	OPTN	C0239548	Fasciculation, Tongue	0.2	0	0	HPO
10133	OPTN	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
10133	OPTN	C0339573	Glaucoma, Primary Open Angle	0.613186885642229	11	3	CTD_human;HPO;UNIPROT
10133	OPTN	C0522224	Paralysed	0.2	0	0	HPO
10133	OPTN	C0524851	Neurodegenerative Disorders	0.202472541057918	0	0	HPO
10133	OPTN	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
10133	OPTN	C0746674	Generalized muscle weakness	0.2	0	0	HPO
10133	OPTN	C1145670	Respiratory Failure	0.2	0	0	HPO
10133	OPTN	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
10133	OPTN	C1847730	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)	0.2	0	0	CTD_human
10133	OPTN	C3150692	AMYOTROPHIC LATERAL SCLEROSIS 12	0.4	1	2	CTD_human;UNIPROT
10133	OPTN	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
10133	OPTN	C4020884	Anxiety disease	0.2	0	0	HPO
10133	OPTN	C4022587	Fatigable weakness of respiratory muscles	0.2	0	0	HPO
10133	OPTN	C4022588	Fatigable weakness of swallowing muscles	0.2	0	0	HPO
10134	BCAP31	C0013421	Dystonia	0.200549453568426	0	0	HPO
10134	BCAP31	C0018784	Sensorineural Hearing Loss (disorder)	0.200274726784213	0	0	HPO
10134	BCAP31	C0025362	Mental Retardation	0.2	0	0	HPO
10134	BCAP31	C0034372	Quadriplegia	0.2	0	0	HPO
10134	BCAP31	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
10134	BCAP31	C0038379	Strabismus	0.2	0	0	HPO
10134	BCAP31	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10134	BCAP31	C0231246	Failure to gain weight	0.2	0	0	HPO
10134	BCAP31	C0234132	Pyramidal sign	0.2	0	0	HPO
10134	BCAP31	C0235946	Cerebral atrophy	0.2	0	0	HPO
10134	BCAP31	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10134	BCAP31	C0266617	Congenital anomaly of face	0.2	0	0	HPO
10134	BCAP31	C0423903	Low intelligence	0.2	0	0	HPO
10134	BCAP31	C0424503	Dysmorphic facies	0.2	0	0	HPO
10134	BCAP31	C0424688	Small head	0.2	0	0	HPO
10134	BCAP31	C0544820	Hypomyelination	0.2	0	0	HPO
10134	BCAP31	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
10134	BCAP31	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10134	BCAP31	C0917816	Mental deficiency	0.2	0	0	HPO
10134	BCAP31	C1385263	facial deformity	0.2	0	0	HPO
10134	BCAP31	C1843367	Poor school performance	0.2	0	0	HPO
10134	BCAP31	C1845408	Contiguous Abcd1-Dxs1375e Deletion Syndrome	0.2	0	0	ORPHANET
10134	BCAP31	C1845977	X- linked recessive	0.2	0	0	HPO
10134	BCAP31	C1864897	Cognitive delay	0.2	0	0	HPO
10134	BCAP31	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10134	BCAP31	C2677328	Brain hypomyelination	0.2	0	0	HPO
10134	BCAP31	C3714756	Intellectual Disability	0.2	0	0	HPO
10134	BCAP31	C3806634	DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	0.2	0	0	ORPHANET
10134	BCAP31	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10134	BCAP31	C4020871	Dystonic disease	0.2	0	0	HPO
10134	BCAP31	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10134	BCAP31	C4020875	Mental and motor retardation	0.2	0	0	HPO
10134	BCAP31	C4020876	Dull intelligence	0.2	0	0	HPO
10134	BCAP31	C4025616	CNS hypomyelination	0.2	0	0	HPO
10134	BCAP31	C4072832	Distortion of face	0.2	0	0	HPO
10134	BCAP31	C4072833	Funny looking face	0.2	0	0	HPO
10135	NAMPT	C0009319	Colitis	0.2	1	0	CTD_human
10135	NAMPT	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10135	NAMPT	C0028754	Obesity	0.213265074822552	1	0	CTD_human
10135	NAMPT	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
10140	TOB1	C0014175	Endometriosis	0.2	1	0	CTD_human
10140	TOB1	C0027659	Neoplasms, Experimental	0.2	1	0	CTD_human
10140	TOB1	C0263454	Chloracne	0.2	1	0	CTD_human
10142	AKAP9	C0035828	Romano-Ward Syndrome	0.2	0	0	ORPHANET
10142	AKAP9	C0037274	Dermatologic disorders	0.2	1	0	CTD_human
10142	AKAP9	C0151878	Prolonged QT interval	0.2	0	0	HPO
10142	AKAP9	C0311375	Arsenic Poisoning	0.2	1	0	CTD_human
10142	AKAP9	C2678483	Long Qt Syndrome 11	0.4	1	2	CTD_human;UNIPROT
10144	FAM13A	C0024117	Chronic Obstructive Airway Disease	0.203846174978983	1	6	CTD_human
10144	FAM13A	C1800706	Idiopathic Pulmonary Fibrosis	0.4	1	0	CTD_human;ORPHANET
10148	EBI3	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10149	ADGRG2	C0021364	Male infertility	0.2	0	0	HPO
10149	ADGRG2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10149	ADGRG2	C0266444	Congenital absence of vas deferens	0.2	0	0	HPO
10149	ADGRG2	C0403814	Congenital bilateral aplasia of vas deferens	0.2	0	0	ORPHANET
10149	ADGRG2	C4023106	Obstructive azoospermia	0.2	0	0	HPO
1015	CDH17	C0005586	Bipolar Disorder	0.200274726784213	2	0	PSYGENET
1015	CDH17	C0033975	Psychotic Disorders	0.2	1	0	PSYGENET
1015	CDH17	C0264423	Asthma, Occupational	0.2	1	0	CTD_human
1015	CDH17	C0349204	Nonorganic psychosis	0.2	1	0	PSYGENET
1015	CDH17	C1839839	MAJOR AFFECTIVE DISORDER 2	0.2	1	0	PSYGENET
10154	PLXNC1	C0014175	Endometriosis	0.2	1	0	CTD_human
10157	AASS	C0002871	Anemia	0.2	0	0	HPO
10157	AASS	C0013581	Ectopia Lentis	0.2	0	0	HPO
10157	AASS	C0014544	Epilepsy	0.2	0	0	HPO
10157	AASS	C0023012	Language Delay	0.2	0	0	HPO
10157	AASS	C0023882	Little's Disease	0.2	0	0	HPO
10157	AASS	C0025362	Mental Retardation	0.2	0	0	HPO
10157	AASS	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10157	AASS	C0026827	Muscle hypotonia	0.2	0	0	HPO
10157	AASS	C0036572	Seizures	0.2	0	0	HPO
10157	AASS	C0042063	Urogenital Abnormalities	0.2	0	0	HPO
10157	AASS	C0080276	Disorder of the genitourinary system	0.2	0	0	HPO
10157	AASS	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
10157	AASS	C0162119	Hemoglobin low	0.2	0	0	HPO
10157	AASS	C0233715	Speech impairment	0.2	0	0	HPO
10157	AASS	C0241210	Speech Delay	0.2	0	0	HPO
10157	AASS	C0262630	Reduced concentration span	0.2	0	0	HPO
10157	AASS	C0268553	Hyperlysinemias	0.600549453568426	0	0	CTD_human;HPO;ORPHANET
10157	AASS	C0268556	Saccharopinuria	0.2	0	0	ORPHANET
10157	AASS	C0268642	Histidinuria renal tubular defect	0.2	0	0	HPO
10157	AASS	C0338656	Impaired cognition	0.2	0	0	HPO
10157	AASS	C0349588	Short stature	0.2	0	0	HPO
10157	AASS	C0423903	Low intelligence	0.2	0	0	HPO
10157	AASS	C0424295	Hyperactive behavior	0.2	0	0	HPO
10157	AASS	C0454644	Delayed speech and language development	0.2	0	0	HPO
10157	AASS	C0683322	Mental impairment	0.2	0	0	HPO
10157	AASS	C0917816	Mental deficiency	0.2	0	0	HPO
10157	AASS	C0936256	Lysine Alpha-Ketoglutarate Reductase Deficiency Disease	0.2	0	0	ORPHANET
10157	AASS	C1837514	Phenotypic variability	0.2	0	0	HPO
10157	AASS	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10157	AASS	C1843367	Poor school performance	0.2	0	0	HPO
10157	AASS	C1848924	Infantile onset	0.2	0	0	HPO
10157	AASS	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10157	AASS	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10157	AASS	C2936921	Saccharopine dehydrogenase deficiency	0.4	0	0	CTD_human;ORPHANET
10157	AASS	C3714756	Intellectual Disability	0.2	0	0	HPO
10157	AASS	C4020876	Dull intelligence	0.2	0	0	HPO
10157	AASS	C4020895	Genitourinary dysplasia	0.2	0	0	HPO
10157	AASS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10157	AASS	C4021733	Hyperlysinuria	0.2	0	0	HPO
10158	PDZK1IP1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10159	ATP6AP2	C0016059	Fibrosis	0.2	1	0	CTD_human
10159	ATP6AP2	C0023012	Language Delay	0.2	0	0	HPO
10159	ATP6AP2	C0025362	Mental Retardation	0.2	0	0	HPO
10159	ATP6AP2	C0151564	Cogwheel Rigidity	0.2	0	0	HPO
10159	ATP6AP2	C0233565	Bradykinesia	0.2	0	0	HPO
10159	ATP6AP2	C0233715	Speech impairment	0.2	0	0	HPO
10159	ATP6AP2	C0234379	Resting Tremor	0.2	0	0	HPO
10159	ATP6AP2	C0241210	Speech Delay	0.2	0	0	HPO
10159	ATP6AP2	C0242422	Parkinsonian Disorders	0.200274726784213	0	0	HPO
10159	ATP6AP2	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10159	ATP6AP2	C0423903	Low intelligence	0.2	0	0	HPO
10159	ATP6AP2	C0454644	Delayed speech and language development	0.2	0	0	HPO
10159	ATP6AP2	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
10159	ATP6AP2	C0917816	Mental deficiency	0.2	0	0	HPO
10159	ATP6AP2	C1843367	Poor school performance	0.2	0	0	HPO
10159	ATP6AP2	C1845543	Mental Retardation, X-Linked, with Epilepsy	0.4	0	0	CTD_human;ORPHANET
10159	ATP6AP2	C1845977	X- linked recessive	0.2	0	0	HPO
10159	ATP6AP2	C1848924	Infantile onset	0.2	0	0	HPO
10159	ATP6AP2	C1854301	Motor delay	0.2	0	0	HPO
10159	ATP6AP2	C1854494	Slow progression	0.2	0	0	HPO
10159	ATP6AP2	C3714756	Intellectual Disability	0.2	0	0	HPO
10159	ATP6AP2	C3806722	PARKINSONISM WITH SPASTICITY, X-LINKED	0.200274726784213	0	0	ORPHANET
10159	ATP6AP2	C4020874	No development of motor milestones	0.2	0	0	HPO
10159	ATP6AP2	C4020876	Dull intelligence	0.2	0	0	HPO
10159	ATP6AP2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1016	CDH18	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
10160	FARP1	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
10161	LPAR6	C0002170	Alopecia	0.200824180352639	0	0	HPO
10161	LPAR6	C0020678	Hypotrichosis	0.4164118301662	0	0	CTD_human;HPO
10161	LPAR6	C0239801	Blonde hair	0.2	0	0	HPO
10161	LPAR6	C0263490	Brittle hair	0.2	0	0	HPO
10161	LPAR6	C0277959	Coarse hair	0.2	0	0	HPO
10161	LPAR6	C0343073	Wooly hair	0.4	0	0	HPO;ORPHANET
10161	LPAR6	C0345427	Woolly hair, congenital	0.2	0	0	ORPHANET
10161	LPAR6	C0423867	Fine hair	0.2	0	0	HPO
10161	LPAR6	C1832348	Slow-growing hair	0.2	0	0	HPO
10161	LPAR6	C1832446	Sparse eyebrow	0.2	0	0	HPO
10161	LPAR6	C1843300	Sparse eyelashes	0.2	0	0	HPO
10161	LPAR6	C1849221	Fair hair	0.2	0	0	HPO
10161	LPAR6	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
10161	LPAR6	C1854310	Hypotrichosis simplex	0.400274726784213	1	0	CTD_human;ORPHANET
10161	LPAR6	C1862863	Sparse body hair	0.2	0	0	HPO
10161	LPAR6	C1873509	Hypotrichosis of the scalp	0.2	0	0	HPO
10161	LPAR6	C1970705	Fragile hair	0.2	0	0	HPO
10161	LPAR6	C3278401	Hair hypopigmentation	0.2	0	0	HPO
10161	LPAR6	C3279470	HYPOTRICHOSIS 8	0.2	1	2	UNIPROT
10161	LPAR6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10161	LPAR6	C4072834	Rough hair texture	0.2	0	0	HPO
10161	LPAR6	C4072835	Kinky hair texture	0.2	0	0	HPO
10161	LPAR6	C4072836	Nappy hair texture	0.2	0	0	HPO
10161	LPAR6	C4072837	Fractured hair	0.2	0	0	HPO
10161	LPAR6	C4073292	Afro-textured hair	0.2	0	0	HPO
10165	SLC25A13	C0006114	Cerebral Edema	0.2	0	0	HPO
10165	SLC25A13	C0008372	Intrahepatic Cholestasis	0.207561324888707	0	0	HPO
10165	SLC25A13	C0009421	Comatose	0.2	0	0	HPO
10165	SLC25A13	C0009676	Confusion	0.2	0	0	HPO
10165	SLC25A13	C0020443	Hypercholesterolemia	0.2	0	0	HPO
10165	SLC25A13	C0023890	Liver Cirrhosis	0.2	0	0	HPO
10165	SLC25A13	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10165	SLC25A13	C0030305	Pancreatitis	0.2	0	0	HPO
10165	SLC25A13	C0086565	Liver Dysfunction	0.2	0	0	HPO
10165	SLC25A13	C0151686	Growth retardation	0.2	0	0	HPO
10165	SLC25A13	C0151691	High density lipoprotein decreased	0.2	0	0	HPO
10165	SLC25A13	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
10165	SLC25A13	C0220994	Hyperammonemia	0.200549453568426	0	0	HPO
10165	SLC25A13	C0231246	Failure to gain weight	0.2	0	0	HPO
10165	SLC25A13	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
10165	SLC25A13	C0268621	Hepatic methionine adenosyltransferase deficiency	0.2	0	0	HPO
10165	SLC25A13	C0311468	Increased bilirubin level (finding)	0.2	0	0	HPO
10165	SLC25A13	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
10165	SLC25A13	C0438717	Transaminases increased	0.2	0	0	HPO
10165	SLC25A13	C0456070	Growth delay	0.2	0	0	HPO
10165	SLC25A13	C0473527	Hypoalphalipoproteinemias	0.2	0	0	HPO
10165	SLC25A13	C0595929	Serum cholesterol raised	0.2	0	0	HPO
10165	SLC25A13	C0877359	Liver function test increased	0.2	0	0	HPO
10165	SLC25A13	C0878787	Growth failure	0.2	0	0	HPO
10165	SLC25A13	C1522137	Hypertriglyceridemia result	0.2	0	0	HPO
10165	SLC25A13	C1527311	Brain Edema	0.2	0	0	HPO
10165	SLC25A13	C1837385	Poor growth	0.2	0	0	HPO
10165	SLC25A13	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
10165	SLC25A13	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
10165	SLC25A13	C1853942	CITRULLINEMIA, TYPE II, NEONATAL-ONSET	0.605769262468475	1	14	CTD_human;ORPHANET;UNIPROT
10165	SLC25A13	C1862761	Increased hepatocellular carcinoma risk	0.2	0	0	HPO
10165	SLC25A13	C1863844	Adult-onset citrullinemia type 2	0.412846646323386	1	7	CTD_human;ORPHANET
10165	SLC25A13	C1867955	Increased incidence of hepatocellular carcinoma	0.2	0	0	HPO
10165	SLC25A13	C2239176	Liver carcinoma	0.201098907136852	0	0	HPO
10165	SLC25A13	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10165	SLC25A13	C2711227	Steatohepatitis	0.200824180352639	0	0	HPO
10165	SLC25A13	C3552463	Very poor growth	0.2	0	0	HPO
10165	SLC25A13	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10165	SLC25A13	C4023102	Elevated plasma citrulline	0.2	0	0	HPO
10166	SLC25A15	C0009024	Clonus	0.2	0	0	HPO
10166	SLC25A15	C0009421	Comatose	0.2	0	0	HPO
10166	SLC25A15	C0014550	Epilepsies, Myoclonic	0.2	0	0	HPO
10166	SLC25A15	C0019209	Hepatomegaly	0.2	0	0	HPO
10166	SLC25A15	C0023380	Lethargy	0.2	0	0	HPO
10166	SLC25A15	C0025362	Mental Retardation	0.2	0	0	HPO
10166	SLC25A15	C0026827	Muscle hypotonia	0.2	0	0	HPO
10166	SLC25A15	C0037771	Paraparesis, Spastic	0.2	0	0	HPO
10166	SLC25A15	C0086565	Liver Dysfunction	0.2	0	0	HPO
10166	SLC25A15	C0151891	Retinal depigmentation	0.2	0	0	HPO
10166	SLC25A15	C0220994	Hyperammonemia	0.205740551713841	0	0	HPO
10166	SLC25A15	C0231246	Failure to gain weight	0.2	0	0	HPO
10166	SLC25A15	C0232744	Decreased liver function	0.2	0	0	HPO
10166	SLC25A15	C0234132	Pyramidal sign	0.2	0	0	HPO
10166	SLC25A15	C0235946	Cerebral atrophy	0.2	0	0	HPO
10166	SLC25A15	C0267797	Acute hepatitis	0.2	0	0	HPO
10166	SLC25A15	C0268540	HHH syndrome	0.60357144819477	8	17	CTD_human;ORPHANET;UNIPROT
10166	SLC25A15	C0423903	Low intelligence	0.2	0	0	HPO
10166	SLC25A15	C0557874	Global developmental delay	0.2	0	0	HPO
10166	SLC25A15	C0563243	Poor coordination	0.2	0	0	HPO
10166	SLC25A15	C0599035	Hyperornithinemia	0.200549453568426	0	0	HPO
10166	SLC25A15	C0751778	Myoclonic Epilepsies, Progressive	0.2	0	0	HPO
10166	SLC25A15	C0917816	Mental deficiency	0.2	0	0	HPO
10166	SLC25A15	C1295585	Decreased vibratory sense	0.2	0	0	HPO
10166	SLC25A15	C1306587	Acute encephalopathy	0.2	0	0	HPO
10166	SLC25A15	C1837514	Phenotypic variability	0.2	0	0	HPO
10166	SLC25A15	C1838993	Episodic vomiting	0.2	0	0	HPO
10166	SLC25A15	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10166	SLC25A15	C1839531	Protein avoidance	0.2	0	0	HPO
10166	SLC25A15	C1843367	Poor school performance	0.2	0	0	HPO
10166	SLC25A15	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10166	SLC25A15	C1857202	Frequent vomiting	0.2	0	0	HPO
10166	SLC25A15	C1857640	Decreased nerve conduction velocity	0.2	0	0	HPO
10166	SLC25A15	C1864897	Cognitive delay	0.2	0	0	HPO
10166	SLC25A15	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10166	SLC25A15	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10166	SLC25A15	C3279149	Liver dysfunction, mild	0.2	0	0	HPO
10166	SLC25A15	C3714756	Intellectual Disability	0.2	0	0	HPO
10166	SLC25A15	C4020859	Pyramidal tract disease	0.2	0	0	HPO
10166	SLC25A15	C4020875	Mental and motor retardation	0.2	0	0	HPO
10166	SLC25A15	C4020876	Dull intelligence	0.2	0	0	HPO
10166	SLC25A15	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10166	SLC25A15	C4021759	Generalized myoclonic seizures	0.2	0	0	HPO
10166	SLC25A15	C4021761	Morphological abnormality of the pyramidal tract	0.2	0	0	HPO
10166	SLC25A15	C4025790	Specific learning disability	0.2	0	0	HPO
101669767	SCHLAP1	C0027627	Neoplasm Metastasis	0.200549453568426	1	0	CTD_human
101669767	SCHLAP1	C0033578	Prostatic Neoplasms	0.200274726784213	1	0	CTD_human
1017	CDK2	C0025202	melanoma	0.216180169513938	1	0	CTD_human
10184	LHFPL2	C0017661	IGA Glomerulonephritis	0.2	1	0	CTD_human
10188	TNK2	C0023903	Liver neoplasms	0.2	1	0	CTD_human
10188	TNK2	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
10189	ALYREF	C0019693	HIV Infections	0.2	1	0	CTD_human
1019	CDK4	C0006118	Brain Neoplasms	0.202956482091714	1	0	CTD_human
1019	CDK4	C0016689	Freckles	0.2	0	0	HPO
1019	CDK4	C0023827	liposarcoma	0.203846174978983	2	0	CTD_human
1019	CDK4	C0024228	Lymphatic Diseases	0.2	0	0	HPO
1019	CDK4	C0024667	Animal Mammary Neoplasms	0.202407028523288	2	0	CTD_human
1019	CDK4	C0024668	Mammary Neoplasms, Experimental	0.2	3	0	CTD_human
1019	CDK4	C0025202	melanoma	0.264290801067979	0	0	HPO
1019	CDK4	C0027659	Neoplasms, Experimental	0.2	1	0	CTD_human
1019	CDK4	C0027960	Nevus	0.200274726784213	0	0	HPO
1019	CDK4	C0027962	Melanocytic nevus	0.200274726784213	0	0	HPO
1019	CDK4	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1019	CDK4	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1019	CDK4	C0151908	Dry skin	0.2	0	0	HPO
1019	CDK4	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1019	CDK4	C0205824	Liposarcoma, Dedifferentiated	0.205769262468475	0	0	ORPHANET
1019	CDK4	C0259817	Xerosis	0.2	0	0	HPO
1019	CDK4	C0677866	Brain Stem Neoplasms	0.2	1	0	CTD_human
1019	CDK4	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1019	CDK4	C1370889	Liposarcoma, well differentiated	0.202747267842131	0	0	ORPHANET
1019	CDK4	C1512419	Hereditary Melanoma	0.206318716036901	0	0	ORPHANET
1019	CDK4	C1835047	MELANOMA, CUTANEOUS MALIGNANT, 1	0.2	0	0	ORPHANET
1019	CDK4	C1836892	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3	0.4	3	3	CTD_human;UNIPROT
1019	CDK4	C2239176	Liver carcinoma	0.208762546340185	1	0	CTD_human
1019	CDK4	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1019	CDK4	C4021976	Abnormality of the lymphatic system	0.2	0	0	HPO
101928376	IL12A-AS1	C0004943	Behcet Syndrome	0.200274726784213	0	0	ORPHANET
10193	RNF41	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
10193	RNF41	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
10193	RNF41	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
10194	TSHZ1	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
10194	TSHZ1	C0018777	Conductive hearing loss	0.2	0	0	HPO
10194	TSHZ1	C0495499	Congenital absence, atresia and stricture of auditory canal (external)	0.2	0	0	ORPHANET
10194	TSHZ1	C1398325	Absent auditory canals	0.2	0	0	HPO
10194	TSHZ1	C1840305	Absent external auditory canals	0.2	0	0	HPO
10194	TSHZ1	C1857079	Atretic auditory canal	0.2	0	0	HPO
10194	TSHZ1	C1866190	Atresia of the external auditory canal	0.2	0	0	HPO
10194	TSHZ1	C2364082	Sense of smell impaired	0.2	0	0	HPO
10195	ALG3	C0003886	Arthrogryposis	0.2	0	0	HPO
10195	ALG3	C0009081	Congenital clubfoot	0.2	0	0	HPO
10195	ALG3	C0011991	Diarrhea	0.2	0	0	HPO
10195	ALG3	C0014544	Epilepsy	0.2	0	0	HPO
10195	ALG3	C0026826	Muscle Hypertonia	0.2	0	0	HPO
10195	ALG3	C0026827	Muscle hypotonia	0.2	0	0	HPO
10195	ALG3	C0029124	Optic Atrophy	0.2	0	0	HPO
10195	ALG3	C0036572	Seizures	0.2	0	0	HPO
10195	ALG3	C0038379	Strabismus	0.2	0	0	HPO
10195	ALG3	C0042963	Vomiting	0.2	0	0	HPO
10195	ALG3	C0149696	Food intolerance (disorder)	0.2	0	0	HPO
10195	ALG3	C0151889	Hyperreflexia	0.2	0	0	HPO
10195	ALG3	C0152421	Macrotia	0.2	0	0	HPO
10195	ALG3	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10195	ALG3	C0158113	Contracture of joint of hand	0.2	0	0	HPO
10195	ALG3	C0231246	Failure to gain weight	0.2	0	0	HPO
10195	ALG3	C0235946	Cerebral atrophy	0.2	0	0	HPO
10195	ALG3	C0240063	Coloboma of iris	0.2	0	0	HPO
10195	ALG3	C0240543	Bulbous nose	0.2	0	0	HPO
10195	ALG3	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10195	ALG3	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10195	ALG3	C0263523	Micronychia (disorder)	0.2	0	0	HPO
10195	ALG3	C0266122	Cleft uvula	0.2	0	0	HPO
10195	ALG3	C0267456	Villous atrophy of intestine	0.2	0	0	HPO
10195	ALG3	C0424688	Small head	0.2	0	0	HPO
10195	ALG3	C0554101	Villous atrophy	0.2	0	0	HPO
10195	ALG3	C0554972	Large auricle	0.2	0	0	HPO
10195	ALG3	C0557874	Global developmental delay	0.2	0	0	HPO
10195	ALG3	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10195	ALG3	C0684276	Hypsarrhythmia	0.2	0	0	HPO
10195	ALG3	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10195	ALG3	C1301509	Severe visual impairment	0.2	0	0	HPO
10195	ALG3	C1832736	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	0.601373633921066	2	5	CTD_human;ORPHANET;UNIPROT
10195	ALG3	C1833058	Small intestine biopsy shows villous atrophy	0.2	0	0	HPO
10195	ALG3	C1834118	Potato nose	0.2	0	0	HPO
10195	ALG3	C1834405	Nail dysplasia	0.2	0	0	HPO
10195	ALG3	C1835581	Large protruding ears	0.2	0	0	HPO
10195	ALG3	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10195	ALG3	C1837899	Isoelectric focusing of serum transferrin consistent with CDG type I	0.2	0	0	HPO
10195	ALG3	C1839025	Decreased amplitudes on flash visual electroretinogram	0.2	0	0	HPO
10195	ALG3	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10195	ALG3	C1848570	Large, floppy ears	0.2	0	0	HPO
10195	ALG3	C1849367	Nasal bridge wide	0.2	0	0	HPO
10195	ALG3	C1850189	Large pinnae	0.2	0	0	HPO
10195	ALG3	C1853743	Axial hypotonia	0.2	0	0	HPO
10195	ALG3	C1855062	Large dysplastic ears	0.2	0	0	HPO
10195	ALG3	C1855751	Bulbous nasal tip	0.2	0	0	HPO
10195	ALG3	C1858091	Long fingers	0.2	0	0	HPO
10195	ALG3	C1859541	Variable degree of villous atrophy	0.2	0	0	HPO
10195	ALG3	C1860838	Large prominent ears	0.2	0	0	HPO
10195	ALG3	C1864897	Cognitive delay	0.2	0	0	HPO
10195	ALG3	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10195	ALG3	C2677378	Duodenal villous atrophy	0.2	0	0	HPO
10195	ALG3	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10195	ALG3	C3554617	Adducted thumb	0.2	0	0	HPO
10195	ALG3	C4020747	Biopsy shows villous atrophy	0.2	0	0	HPO
10195	ALG3	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10195	ALG3	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10195	ALG3	C4020875	Mental and motor retardation	0.2	0	0	HPO
10195	ALG3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10195	ALG3	C4025741	Clinodactyly of the 5th toe	0.2	0	0	HPO
10195	ALG3	C4025846	Abnormality of vision	0.2	0	0	HPO
10195	ALG3	C4280495	Concave bridge of nose	0.2	0	0	HPO
10195	ALG3	C4280586	Curvature of the little toe	0.2	0	0	HPO
10197	PSME3	C0019693	HIV Infections	0.2	1	0	CTD_human
102	ADAM10	C0406811	Reticulate acropigmentation of Kitamura	0.400274726784213	1	5	ORPHANET;UNIPROT
102	ADAM10	C1458155	Mammary Neoplasms	0.200274726784213	1	0	CTD_human
102	ADAM10	C3810041	ALZHEIMER DISEASE 18	0.2	2	2	UNIPROT
1020	CDK5	C0003886	Arthrogryposis	0.2	0	0	HPO
1020	CDK5	C0019572	Hirsutism	0.2	0	0	HPO
1020	CDK5	C0024236	Lymphedema	0.2	0	0	HPO
1020	CDK5	C0025990	Micrognathism	0.2	0	0	HPO
1020	CDK5	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1020	CDK5	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1020	CDK5	C0234146	Absent reflex	0.2	0	0	HPO
1020	CDK5	C0239815	Clenched hands	0.2	0	0	HPO
1020	CDK5	C0240278	Lymphatic obstruction	0.2	0	0	HPO
1020	CDK5	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1020	CDK5	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1020	CDK5	C0266463	Lissencephaly	0.2	0	0	HPO
1020	CDK5	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
1020	CDK5	C0278124	Absent tendon reflex	0.2	0	0	HPO
1020	CDK5	C0424688	Small head	0.2	0	0	HPO
1020	CDK5	C0521525	Short neck	0.2	0	0	HPO
1020	CDK5	C0557874	Global developmental delay	0.2	0	0	HPO
1020	CDK5	C0600427	Cocaine Dependence	0.2	2	0	PSYGENET
1020	CDK5	C1835229	Onset of lymphedema around puberty	0.2	0	0	HPO
1020	CDK5	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1020	CDK5	C1864897	Cognitive delay	0.2	0	0	HPO
1020	CDK5	C1866231	Full cheeks	0.2	0	0	HPO
1020	CDK5	C1879312	Agyria	0.2	0	0	HPO
1020	CDK5	C2748653	Chubby cheeks	0.2	0	0	HPO
1020	CDK5	C2752013	Prenatal onset	0.2	0	0	HPO
1020	CDK5	C3806443	Puffy cheeks	0.2	0	0	HPO
1020	CDK5	C4020875	Mental and motor retardation	0.2	0	0	HPO
1020	CDK5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1020	CDK5	C4280647	Hypertrophy of cheeks	0.2	0	0	HPO
1020	CDK5	C4280648	Hyperplasia of cheeks	0.2	0	0	HPO
10203	CALCRL	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
10204	NUTF2	C0019693	HIV Infections	0.2	1	0	CTD_human
10207	PATJ	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10207	PATJ	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1021	CDK6	C0003873	Rheumatoid Arthritis	0.213408776537506	1	2	CTD_human
1021	CDK6	C0008519	Ectopic Tissue	0.2	0	0	HPO
1021	CDK6	C0008625	Chromosome Aberrations	0.2	1	0	CTD_human
1021	CDK6	C0017636	Glioblastoma	0.201648360705279	1	0	CTD_human
1021	CDK6	C0023467	Leukemia, Myelocytic, Acute	0.201373633921065	1	0	CTD_human
1021	CDK6	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1021	CDK6	C0025149	Medulloblastoma	0.207388912419119	2	0	CTD_human
1021	CDK6	C0025362	Mental Retardation	0.2	0	0	HPO
1021	CDK6	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1021	CDK6	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
1021	CDK6	C0042580	Vesico-Ureteral Reflux	0.2	0	0	HPO
1021	CDK6	C0151889	Hyperreflexia	0.2	0	0	HPO
1021	CDK6	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1021	CDK6	C0263454	Chloracne	0.2	1	0	CTD_human
1021	CDK6	C0266294	Unilateral agenesis of kidney	0.2	0	0	HPO
1021	CDK6	C0266483	Pachygyria	0.2	0	0	HPO
1021	CDK6	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
1021	CDK6	C0349588	Short stature	0.2	0	0	HPO
1021	CDK6	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
1021	CDK6	C0423903	Low intelligence	0.2	0	0	HPO
1021	CDK6	C0424688	Small head	0.2	0	0	HPO
1021	CDK6	C0557874	Global developmental delay	0.2	0	0	HPO
1021	CDK6	C0677866	Brain Stem Neoplasms	0.2	1	0	CTD_human
1021	CDK6	C0917816	Mental deficiency	0.2	0	0	HPO
1021	CDK6	C1843367	Poor school performance	0.2	0	0	HPO
1021	CDK6	C1849172	Frontal lobe hypoplasia	0.2	0	0	HPO
1021	CDK6	C1855081	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	0.2	0	0	ORPHANET
1021	CDK6	C1857679	Sloping forehead	0.2	0	0	HPO
1021	CDK6	C1864897	Cognitive delay	0.2	0	0	HPO
1021	CDK6	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
1021	CDK6	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.200549453568426	1	0	CTD_human
1021	CDK6	C2749675	Cortical gyral simplification	0.2	0	0	HPO
1021	CDK6	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1021	CDK6	C3714756	Intellectual Disability	0.2	0	0	HPO
1021	CDK6	C4015156	MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE	0.2	1	1	UNIPROT
1021	CDK6	C4020875	Mental and motor retardation	0.2	0	0	HPO
1021	CDK6	C4020876	Dull intelligence	0.2	0	0	HPO
1021	CDK6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1021	CDK6	C4021741	Abnormal cortical bone morphology	0.2	0	0	HPO
10210	TOPORS	C0017601	Glaucoma	0.2	0	0	HPO
10210	TOPORS	C0018777	Conductive hearing loss	0.2	0	0	HPO
10210	TOPORS	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10210	TOPORS	C0020459	Hyperinsulinism	0.2	0	0	HPO
10210	TOPORS	C0020619	Hypogonadism	0.2	0	0	HPO
10210	TOPORS	C0022578	Keratoconus	0.2	0	0	HPO
10210	TOPORS	C0025362	Mental Retardation	0.2	0	0	HPO
10210	TOPORS	C0028738	Nystagmus	0.2	0	0	HPO
10210	TOPORS	C0028754	Obesity	0.2	0	0	HPO
10210	TOPORS	C0029089	Ophthalmoplegia	0.2	0	0	HPO
10210	TOPORS	C0029124	Optic Atrophy	0.2	0	0	HPO
10210	TOPORS	C0029463	Osteosarcoma	0.202732912464814	1	0	CTD_human
10210	TOPORS	C0035334	Retinitis Pigmentosa	0.407872853452916	0	0	HPO;ORPHANET
10210	TOPORS	C0085636	Photophobia	0.2	0	0	HPO
10210	TOPORS	C0086543	Cataract	0.2	0	0	HPO
10210	TOPORS	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
10210	TOPORS	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10210	TOPORS	C0271215	Blindness, Legal	0.2	0	0	HPO
10210	TOPORS	C0423903	Low intelligence	0.2	0	0	HPO
10210	TOPORS	C0456909	Blind Vision	0.2	0	0	HPO
10210	TOPORS	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10210	TOPORS	C0917816	Mental deficiency	0.2	0	0	HPO
10210	TOPORS	C1510497	Lens Opacities	0.2	0	0	HPO
10210	TOPORS	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10210	TOPORS	C1835923	Retinitis Pigmentosa 31	0.2	0	0	CTD_human
10210	TOPORS	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10210	TOPORS	C1840077	Anteverted nostril	0.2	0	0	HPO
10210	TOPORS	C1840457	Loss of retinal pigment epithelium	0.2	0	0	HPO
10210	TOPORS	C1843367	Poor school performance	0.2	0	0	HPO
10210	TOPORS	C1849367	Nasal bridge wide	0.2	0	0	HPO
10210	TOPORS	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10210	TOPORS	C3278975	Attenuation of retinal blood vessels	0.2	0	0	HPO
10210	TOPORS	C3714756	Intellectual Disability	0.2	0	0	HPO
10210	TOPORS	C3887875	Visual field defects	0.2	0	0	HPO
10210	TOPORS	C4020876	Dull intelligence	0.2	0	0	HPO
10210	TOPORS	C4020887	Photodysphoria	0.2	0	0	HPO
10210	TOPORS	C4021786	Atypical scarring of skin	0.2	0	0	HPO
10210	TOPORS	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
10210	TOPORS	C4024818	Night blindness, progressive	0.2	0	0	HPO
10211	FLOT1	C0034362	Q Fever	0.2	1	0	CTD_human
10216	PRG4	C0003864	Arthritis	0.200549453568426	0	0	HPO
10216	PRG4	C0009917	Contracture	0.2	1	0	CTD_human
10216	PRG4	C0020507	Hyperplasia	0.2	1	0	CTD_human
10216	PRG4	C0022408	Arthropathy	0.200274726784213	0	0	HPO
10216	PRG4	C0031046	Pericarditis	0.2	1	0	CTD_human
10216	PRG4	C0031048	Pericarditis, Constrictive	0.2	0	0	HPO
10216	PRG4	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
10216	PRG4	C0409345	Flexion contracture - wrist	0.2	0	0	HPO
10216	PRG4	C0410574	Synovial Hypertrophy	0.2	0	0	HPO
10216	PRG4	C1393871	Congenital finger contractures	0.2	0	0	HPO
10216	PRG4	C1859690	CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	0.402747267842131	1	1	CTD_human;ORPHANET
10216	PRG4	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10216	PRG4	C4023134	Flattened metacarpal heads	0.2	0	0	HPO
10216	PRG4	C4025238	Generalized morning stiffness	0.2	0	0	HPO
10216	PRG4	C4025240	Flattened metatarsal heads	0.2	0	0	HPO
10221	TRIB1	C1956346	Coronary Artery Disease	0.200824180352639	1	0	CTD_human
10225	CD96	C0010417	Cryptorchidism	0.2	0	0	HPO
10225	CD96	C0010495	Cutis Laxa	0.2	0	0	HPO
10225	CD96	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
10225	CD96	C0014544	Epilepsy	0.2	0	0	HPO
10225	CD96	C0017566	Gingival Hyperplasia	0.2	0	0	HPO
10225	CD96	C0017567	Gingival Hypertrophy	0.2	0	0	HPO
10225	CD96	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10225	CD96	C0019209	Hepatomegaly	0.2	0	0	HPO
10225	CD96	C0024433	Macrostomia	0.2	0	0	HPO
10225	CD96	C0025362	Mental Retardation	0.2	0	0	HPO
10225	CD96	C0025990	Micrognathism	0.2	0	0	HPO
10225	CD96	C0025995	Micromelia	0.2	0	0	HPO
10225	CD96	C0026827	Muscle hypotonia	0.2	0	0	HPO
10225	CD96	C0036572	Seizures	0.2	0	0	HPO
10225	CD96	C0037932	Curvature of spine	0.2	0	0	HPO
10225	CD96	C0038379	Strabismus	0.2	0	0	HPO
10225	CD96	C0156394	Hypertrophy of clitoris	0.2	0	0	HPO
10225	CD96	C0231246	Failure to gain weight	0.2	0	0	HPO
10225	CD96	C0231679	Ulnar deviation of the fingers	0.2	0	0	HPO
10225	CD96	C0238394	Female Pseudohermaphroditism	0.2	0	0	HPO
10225	CD96	C0239234	Low set ears	0.2	0	0	HPO
10225	CD96	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10225	CD96	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10225	CD96	C0265535	Trigonocephaly	0.2	0	0	HPO
10225	CD96	C0265563	Congenital dislocation of radial head	0.2	0	0	HPO
10225	CD96	C0265610	Congenital clinodactyly	0.2	0	0	HPO
10225	CD96	C0265660	Syndactyly of the toes	0.2	0	0	HPO
10225	CD96	C0349588	Short stature	0.2	0	0	HPO
10225	CD96	C0376480	Gingival Overgrowth	0.2	0	0	HPO
10225	CD96	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
10225	CD96	C0423903	Low intelligence	0.2	0	0	HPO
10225	CD96	C0424688	Small head	0.2	0	0	HPO
10225	CD96	C0426414	Small nose	0.2	0	0	HPO
10225	CD96	C0426848	Sacral dimples	0.2	0	0	HPO
10225	CD96	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
10225	CD96	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
10225	CD96	C0521525	Short neck	0.2	0	0	HPO
10225	CD96	C0541764	Delayed bone age	0.2	0	0	HPO
10225	CD96	C0557874	Global developmental delay	0.2	0	0	HPO
10225	CD96	C0578038	Thin lips	0.2	0	0	HPO
10225	CD96	C0581342	Redundant skin	0.2	0	0	HPO
10225	CD96	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10225	CD96	C0700208	Acquired scoliosis	0.2	0	0	HPO
10225	CD96	C0795690	Congenital omphalocele	0.2	0	0	HPO
10225	CD96	C0796095	Opitz trigonocephaly syndrome	0.600274726784213	1	1	CTD_human;ORPHANET;UNIPROT
10225	CD96	C0796232	Bohring syndrome	0.200274726784213	0	0	CTD_human
10225	CD96	C0917816	Mental deficiency	0.2	0	0	HPO
10225	CD96	C1142533	Smooth philtrum	0.2	0	0	HPO
10225	CD96	C1301937	Talipes	0.2	0	0	HPO
10225	CD96	C1836189	Radially deviated fingers	0.2	0	0	HPO
10225	CD96	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10225	CD96	C1837084	Short metacarpal	0.2	0	0	HPO
10225	CD96	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10225	CD96	C1840077	Anteverted nostril	0.2	0	0	HPO
10225	CD96	C1840310	Midline facial capillary hemangioma	0.2	0	0	HPO
10225	CD96	C1843367	Poor school performance	0.2	0	0	HPO
10225	CD96	C1849367	Nasal bridge wide	0.2	0	0	HPO
10225	CD96	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10225	CD96	C1854114	Short nose	0.2	0	0	HPO
10225	CD96	C1854418	Biparietal narrowing	0.2	0	0	HPO
10225	CD96	C1857108	Decreased joint mobility	0.2	0	0	HPO
10225	CD96	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10225	CD96	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
10225	CD96	C1859376	Fused sternal ossification centers	0.2	0	0	HPO
10225	CD96	C1859377	Thick anterior alveolar ridges	0.2	0	0	HPO
10225	CD96	C1862095	Bilateral single transverse palmar creases	0.2	0	0	HPO
10225	CD96	C1864897	Cognitive delay	0.2	0	0	HPO
10225	CD96	C1865014	Long philtrum	0.2	0	0	HPO
10225	CD96	C1867873	Failure to thrive in infancy	0.2	0	0	HPO
10225	CD96	C1969144	Renal cortical cysts	0.2	0	0	HPO
10225	CD96	C2051831	Pectus excavatum	0.2	0	0	HPO
10225	CD96	C2112129	Postaxial foot polydactyly	0.2	0	0	HPO
10225	CD96	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10225	CD96	C2930812	Generalized elastolysis	0.2	0	0	HPO
10225	CD96	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10225	CD96	C3552713	Talipes foot deformities	0.2	0	0	HPO
10225	CD96	C3714756	Intellectual Disability	0.2	0	0	HPO
10225	CD96	C4020865	Fibular polydactyly	0.2	0	0	HPO
10225	CD96	C4020875	Mental and motor retardation	0.2	0	0	HPO
10225	CD96	C4020876	Dull intelligence	0.2	0	0	HPO
10225	CD96	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10225	CD96	C4021814	Accessory oral frenulum	0.2	0	0	HPO
10225	CD96	C4021986	Hypoplasia of the ear cartilage	0.2	0	0	HPO
10225	CD96	C4023616	Abnormality of immune system physiology	0.2	0	0	HPO
10225	CD96	C4025329	Abnormality of the anus	0.2	0	0	HPO
10225	CD96	C4049796	Abnormality of cardiovascular system morphology	0.2	0	0	HPO
10225	CD96	C4280304	Curvature of digit	0.2	0	0	HPO
10225	CD96	C4280495	Concave bridge of nose	0.2	0	0	HPO
10225	CD96	C4280532	Decreased width of the skull	0.2	0	0	HPO
10225	CD96	C4280538	Curvature of little finger	0.2	0	0	HPO
10225	CD96	C4280606	Hanging skin	0.2	0	0	HPO
10225	CD96	C4280665	Wedge shaped head	0.2	0	0	HPO
10225	CD96	C4280666	Triangular head shape	0.2	0	0	HPO
10226	PLIN3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10228	STX6	C0038868	Progressive supranuclear palsy	0.200549453568426	1	1	CTD_human
10228	STX6	C1866282	CEROID LIPOFUSCINOSIS, NEURONAL, 6	0.2	1	0	CTD_human
10229	COQ7	C4225226	COENZYME Q10 DEFICIENCY, PRIMARY, 8	0.2	1	1	UNIPROT
10232	MSLN	C0001418	Adenocarcinoma	0.206839458850693	1	0	CTD_human
10232	MSLN	C0024232	Lymphatic Metastasis	0.2	1	0	CTD_human
10232	MSLN	C0025500	Mesothelioma	0.229280922892264	3	0	CTD_human
10232	MSLN	C0030297	Pancreatic Neoplasm	0.206015278498054	1	0	CTD_human
10232	MSLN	C0032226	Pleural Diseases	0.2	1	0	CTD_human
10232	MSLN	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10232	MSLN	C0206687	Carcinoma, Endometrioid	0.2	1	0	CTD_human
10232	MSLN	C0206698	Cholangiocarcinoma	0.200274726784213	1	0	CTD_human
10232	MSLN	C0345967	Malignant mesothelioma	0.201648360705279	2	0	CTD_human
10232	MSLN	C0887833	Carcinoma, Pancreatic Ductal	0.202732912464814	3	0	CTD_human
10232	MSLN	C0919267	ovarian neoplasm	0.206015278498054	1	0	CTD_human
10232	MSLN	C3714739	Mesothelial Neoplasms	0.2	2	0	CTD_human
10236	HNRNPR	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10238	DCAF7	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10238	DCAF7	C1860789	Leukemia, Megakaryoblastic, of Down Syndrome	0.2	1	0	CTD_human
10239	AP3S2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200824180352639	1	1	CTD_human
10243	GPHN	C0000786	Spontaneous abortion	0.2	0	0	HPO
10243	GPHN	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	CTD_human
10243	GPHN	C0003578	Apnea	0.2	0	0	HPO
10243	GPHN	C0014544	Epilepsy	0.200824180352639	0	0	HPO
10243	GPHN	C0019294	Hernia, Inguinal	0.2	0	0	HPO
10243	GPHN	C0019322	Umbilical hernia	0.2	0	0	HPO
10243	GPHN	C0026826	Muscle Hypertonia	0.2	0	0	HPO
10243	GPHN	C0027066	Myoclonus	0.2	0	0	HPO
10243	GPHN	C0036572	Seizures	0.2	0	0	HPO
10243	GPHN	C0086439	Hypokinesia	0.2	0	0	HPO
10243	GPHN	C0151889	Hyperreflexia	0.2	0	0	HPO
10243	GPHN	C0232466	Feeding difficulties	0.2	0	0	HPO
10243	GPHN	C0234166	Hyperexplexia	0.200549453568426	0	0	HPO
10243	GPHN	C0236736	Cocaine-Related Disorders	0.2	1	0	CTD_human
10243	GPHN	C0266464	Polymicrogyria	0.2	0	0	HPO
10243	GPHN	C0268119	Combined molybdoflavoprotein enzyme deficiency	0.4	0	0	CTD_human;HPO
10243	GPHN	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
10243	GPHN	C0700198	Pulmonary aspiration	0.2	0	0	HPO
10243	GPHN	C0850703	Frequent falls	0.2	0	0	HPO
10243	GPHN	C1445953	Poor eye contact	0.2	0	0	HPO
10243	GPHN	C1740801	Exaggerated startle response	0.2	0	0	HPO
10243	GPHN	C1835614	Hereditary Hyperexplexia	0.4	0	0	CTD_human;ORPHANET
10243	GPHN	C1836014	Exaggerated acoustic startle response	0.2	0	0	HPO
10243	GPHN	C1836038	Poor head control	0.2	0	0	HPO
10243	GPHN	C1848918	Increased startle response	0.2	0	0	HPO
10243	GPHN	C1848924	Infantile onset	0.2	0	0	HPO
10243	GPHN	C1853743	Axial hypotonia	0.2	0	0	HPO
10243	GPHN	C1854990	Molybdenum Cofactor Deficiency, Complementation Group C	0.48	1	1	ORPHANET;UNIPROT
10243	GPHN	C2712334	Actual Aspiration	0.2	0	0	HPO
10243	GPHN	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10249	GLYAT	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
10253	SPRY2	C0008924	Cleft Lip	0.202407028523288	1	0	CTD_human
10253	SPRY2	C0008925	Cleft Palate	0.202407028523288	1	0	CTD_human
10253	SPRY2	C0024115	Lung diseases	0.2	1	0	CTD_human
10253	SPRY2	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
10253	SPRY2	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10253	SPRY2	C4225194	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3	0.2	1	1	UNIPROT
10256	CNKSR1	C3714756	Intellectual Disability	0.2	1	0	CTD_human
10257	ABCC4	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
10257	ABCC4	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10257	ABCC4	C0014175	Endometriosis	0.200274726784213	1	0	CTD_human
10257	ABCC4	C0027627	Neoplasm Metastasis	0.200274726784213	1	0	CTD_human
10257	ABCC4	C0033578	Prostatic Neoplasms	0.205465824929628	1	0	CTD_human
10257	ABCC4	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
10257	ABCC4	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1026	CDKN1A	C0001206	Acromegaly	0.2	0	0	HPO
1026	CDKN1A	C0005695	Bladder Neoplasm	0.211220732020785	1	0	CTD_human
1026	CDKN1A	C0007138	Carcinoma, Transitional Cell	0.200824180352639	2	0	CTD_human
1026	CDKN1A	C0009375	Colonic Neoplasms	0.222962206855362	1	0	CTD_human
1026	CDKN1A	C0011991	Diarrhea	0.2	0	0	HPO
1026	CDKN1A	C0014868	Esophagitis	0.2	0	0	HPO
1026	CDKN1A	C0019693	HIV Infections	0.200274726784213	1	0	CTD_human
1026	CDKN1A	C0020437	Hypercalcemia	0.2	0	0	HPO
1026	CDKN1A	C0020502	Hyperparathyroidism	0.2	0	0	HPO
1026	CDKN1A	C0021670	insulinoma	0.2	0	0	HPO
1026	CDKN1A	C0021841	Intestinal Neoplasms	0.200549453568426	2	0	CTD_human
1026	CDKN1A	C0022658	Kidney Diseases	0.2	1	0	CTD_human
1026	CDKN1A	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1026	CDKN1A	C0024121	Lung Neoplasms	0.208473464178654	2	0	CTD_human
1026	CDKN1A	C0025267	Multiple Endocrine Neoplasia Type 1	0.202407028523288	0	0	ORPHANET
1026	CDKN1A	C0030354	Papilloma	0.203557092817453	1	0	CTD_human
1026	CDKN1A	C0030920	Peptic Ulcer	0.2	0	0	HPO
1026	CDKN1A	C0033375	Prolactinoma	0.2	0	0	HPO
1026	CDKN1A	C0033578	Prostatic Neoplasms	0.224493897868698	2	0	CTD_human
1026	CDKN1A	C0035126	Reperfusion Injury	0.28	1	0	CTD_human
1026	CDKN1A	C0038356	Stomach Neoplasms	0.28328236603324	1	0	CTD_human
1026	CDKN1A	C0043515	Zollinger-Ellison syndrome	0.2	0	0	HPO
1026	CDKN1A	C0151468	Thyroid Gland Follicular Adenoma	0.2	0	0	HPO
1026	CDKN1A	C0206667	Adrenal Cortical Adenoma	0.200274726784213	0	0	HPO
1026	CDKN1A	C0206731	Angiofibroma	0.2	0	0	HPO
1026	CDKN1A	C0235986	Growth hormone excess	0.2	0	0	HPO
1026	CDKN1A	C0238288	Muscular Dystrophy, Facioscapulohumeral	0.2	1	0	CTD_human
1026	CDKN1A	C0262527	intermittent abdominal pain	0.2	0	0	HPO
1026	CDKN1A	C0262587	Parathyroid Adenoma	0.2	0	0	HPO
1026	CDKN1A	C0271844	Parathyroid hyperplasia	0.2	0	0	HPO
1026	CDKN1A	C0279626	Squamous cell carcinoma of esophagus	0.202197814273705	1	0	CTD_human
1026	CDKN1A	C0338078	Non-Functioning Pituitary Gland Neoplasm	0.2	0	0	HPO
1026	CDKN1A	C0345967	Malignant mesothelioma	0.200274726784213	1	0	CTD_human
1026	CDKN1A	C0857973	Increased serum parathyroid hormone	0.2	0	0	HPO
1026	CDKN1A	C1403035	Subcutaneous lipomas	0.2	0	0	HPO
1026	CDKN1A	C1864903	Hyperinsulinaemic hypoglycaemia	0.2	0	0	HPO
1026	CDKN1A	C1864954	Hyperinsulinemia, fasting	0.2	0	0	HPO
1026	CDKN1A	C3808022	Abdominal pain, episodic	0.2	0	0	HPO
1026	CDKN1A	C4018860	Pituitary growth hormone cell adenoma	0.2	0	0	HPO
10263	CDK2AP2	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10266	RAMP2	C0001418	Adenocarcinoma	0.2	1	0	CTD_human
10266	RAMP2	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
10266	RAMP2	C0035222	Respiratory Distress Syndrome, Adult	0.2	1	0	CTD_human
10266	RAMP2	C0043094	Weight Gain	0.2	1	0	CTD_human
10267	RAMP1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10269	ZMPSTE24	C0002170	Alopecia	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0002962	Angina Pectoris	0.2	0	0	HPO
10269	ZMPSTE24	C0005744	Blepharophimosis	0.2	0	0	HPO
10269	ZMPSTE24	C0006663	Calcinosis	0.2	0	0	HPO
10269	ZMPSTE24	C0008297	Choanal Atresia	0.2	0	0	HPO
10269	ZMPSTE24	C0009917	Contracture	0.2	0	0	HPO
10269	ZMPSTE24	C0009918	Contracture of joint	0.2	0	0	HPO
10269	ZMPSTE24	C0010520	Cyanosis	0.2	0	0	HPO
10269	ZMPSTE24	C0013238	Dry Eye Syndromes	0.2	0	0	HPO
10269	ZMPSTE24	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
10269	ZMPSTE24	C0014390	Entropion	0.2	0	0	HPO
10269	ZMPSTE24	C0015300	Exophthalmos	0.2	0	0	HPO
10269	ZMPSTE24	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10269	ZMPSTE24	C0015944	Fetal Membranes, Premature Rupture	0.2	0	0	HPO
10269	ZMPSTE24	C0017668	Focal glomerulosclerosis	0.200274726784213	1	0	CTD_human
10269	ZMPSTE24	C0018784	Sensorineural Hearing Loss (disorder)	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0018817	Atrial Septal Defects	0.2	0	0	HPO
10269	ZMPSTE24	C0020224	Polyhydramnios	0.2	0	0	HPO
10269	ZMPSTE24	C0020456	Hyperglycemia	0.2	0	0	HPO
10269	ZMPSTE24	C0020459	Hyperinsulinism	0.2	0	0	HPO
10269	ZMPSTE24	C0020473	Hyperlipidemia	0.2	0	0	HPO
10269	ZMPSTE24	C0020490	Hyperopia	0.2	0	0	HPO
10269	ZMPSTE24	C0020534	Orbital separation excessive	0.2	0	0	HPO
10269	ZMPSTE24	C0020538	Hypertensive disease	0.2	0	0	HPO
10269	ZMPSTE24	C0020608	Hypodontia	0.2	0	0	HPO
10269	ZMPSTE24	C0020620	Hypohidrosis	0.2	0	0	HPO
10269	ZMPSTE24	C0020678	Hypotrichosis	0.2	0	0	HPO
10269	ZMPSTE24	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10269	ZMPSTE24	C0021359	Infertility	0.2	0	0	HPO
10269	ZMPSTE24	C0021655	Insulin Resistance	0.2	0	0	HPO
10269	ZMPSTE24	C0021775	Intermittent Claudication	0.2	0	0	HPO
10269	ZMPSTE24	C0022575	Keratoconjunctivitis Sicca	0.2	0	0	HPO
10269	ZMPSTE24	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
10269	ZMPSTE24	C0023787	Lipodystrophy	0.201373633921065	1	0	CTD_human
10269	ZMPSTE24	C0024689	Mandibular Diseases	0.2	1	0	CTD_human
10269	ZMPSTE24	C0025990	Micrognathism	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0026034	Microstomia	0.2	0	0	HPO
10269	ZMPSTE24	C0027443	Natal Teeth	0.2	0	0	HPO
10269	ZMPSTE24	C0029408	Degenerative polyarthritis	0.2	0	0	HPO
10269	ZMPSTE24	C0029456	Osteoporosis	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0033300	Progeria	0.488516530310606	1	0	CTD_human;ORPHANET
10269	ZMPSTE24	C0040427	Tooth Abnormalities	0.2	0	0	HPO
10269	ZMPSTE24	C0040433	Tooth Crowding	0.2	0	0	HPO
10269	ZMPSTE24	C0043349	Xerophthalmia	0.2	0	0	HPO
10269	ZMPSTE24	C0085681	Hyperphosphatemia (disorder)	0.2	0	0	HPO
10269	ZMPSTE24	C0151514	Atrophic condition of skin	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0151526	Premature Birth	0.2	0	0	HPO
10269	ZMPSTE24	C0151872	Prothrombin time increased	0.2	0	0	HPO
10269	ZMPSTE24	C0152421	Macrotia	0.2	0	0	HPO
10269	ZMPSTE24	C0162298	Joint stiffness	0.2	0	0	HPO
10269	ZMPSTE24	C0162834	Hyperpigmentation	0.2	0	0	HPO
10269	ZMPSTE24	C0221032	Familial generalized lipodystrophy	0.200824180352639	0	0	HPO
10269	ZMPSTE24	C0221260	Dystrophia unguium	0.2	0	0	HPO
10269	ZMPSTE24	C0221365	Double ureter	0.2	0	0	HPO
10269	ZMPSTE24	C0231246	Failure to gain weight	0.2	0	0	HPO
10269	ZMPSTE24	C0232513	Premature tooth loss	0.2	0	0	HPO
10269	ZMPSTE24	C0233315	Premature birth of newborn	0.2	0	0	HPO
10269	ZMPSTE24	C0235659	Reduced fetal movement	0.2	0	0	HPO
10269	ZMPSTE24	C0238621	Aminoaciduria	0.2	0	0	HPO
10269	ZMPSTE24	C0239174	Late tooth eruption	0.2	0	0	HPO
10269	ZMPSTE24	C0239234	Low set ears	0.2	0	0	HPO
10269	ZMPSTE24	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10269	ZMPSTE24	C0240538	Convex nasal ridge	0.2	0	0	HPO
10269	ZMPSTE24	C0240912	Vertical Talus	0.2	0	0	HPO
10269	ZMPSTE24	C0241011	Low serum estradiol levels	0.2	0	0	HPO
10269	ZMPSTE24	C0241703	High pitched voice	0.2	0	0	HPO
10269	ZMPSTE24	C0262444	Dental abnormalities	0.2	0	0	HPO
10269	ZMPSTE24	C0263490	Brittle hair	0.2	0	0	HPO
10269	ZMPSTE24	C0263498	Premature canities	0.2	0	0	HPO
10269	ZMPSTE24	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
10269	ZMPSTE24	C0266623	Congenital anomaly of neck	0.2	0	0	HPO
10269	ZMPSTE24	C0266786	Short cord	0.2	0	0	HPO
10269	ZMPSTE24	C0270254	Hydrops of placenta	0.2	0	0	HPO
10269	ZMPSTE24	C0271623	Hypogonadotropic hypogonadism	0.2	0	0	HPO
10269	ZMPSTE24	C0271650	Impaired glucose tolerance	0.2	0	0	HPO
10269	ZMPSTE24	C0277828	Late fontanel closure	0.2	0	0	HPO
10269	ZMPSTE24	C0333068	Flexion contracture	0.2	0	0	HPO
10269	ZMPSTE24	C0342491	Small adrenal gland	0.2	0	0	HPO
10269	ZMPSTE24	C0349588	Short stature	0.2	0	0	HPO
10269	ZMPSTE24	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10269	ZMPSTE24	C0399385	Early tooth exfoliation	0.2	0	0	HPO
10269	ZMPSTE24	C0406585	Lethal tight skin contracture syndrome (disorder)	0.4	0	0	CTD_human;ORPHANET
10269	ZMPSTE24	C0423112	Short palpebral fissure	0.2	0	0	HPO
10269	ZMPSTE24	C0423757	Thin skin	0.2	0	0	HPO
10269	ZMPSTE24	C0423808	Brachyonychia	0.2	0	0	HPO
10269	ZMPSTE24	C0423823	Thin nails	0.2	0	0	HPO
10269	ZMPSTE24	C0426414	Small nose	0.2	0	0	HPO
10269	ZMPSTE24	C0426433	Pinched nasal tip	0.2	0	0	HPO
10269	ZMPSTE24	C0426799	Congenital hypoplasia of clavicle	0.200274726784213	0	0	HPO
10269	ZMPSTE24	C0426806	Bipartite clavicle	0.2	0	0	HPO
10269	ZMPSTE24	C0426811	Pseudoarthrosis of clavicle	0.2	0	0	HPO
10269	ZMPSTE24	C0426818	Thin rib	0.2	0	0	HPO
10269	ZMPSTE24	C0431483	Simple ear	0.2	0	0	HPO
10269	ZMPSTE24	C0432103	Submucous cleft of hard palate	0.2	0	0	HPO
10269	ZMPSTE24	C0432355	Hypoplasia of nipple	0.2	0	0	HPO
10269	ZMPSTE24	C0454555	Hypernasal voice	0.2	0	0	HPO
10269	ZMPSTE24	C0456132	Large fontanelle	0.2	0	0	HPO
10269	ZMPSTE24	C0497247	Increase in blood pressure	0.2	0	0	HPO
10269	ZMPSTE24	C0553706	SERUM PHOSPHATE ELEVATED	0.2	0	0	HPO
10269	ZMPSTE24	C0554972	Large auricle	0.2	0	0	HPO
10269	ZMPSTE24	C0558242	Stretched skin	0.2	0	0	HPO
10269	ZMPSTE24	C0566620	Nasal voice	0.2	0	0	HPO
10269	ZMPSTE24	C0575158	Kyphoscoliosis deformity of spine	0.2	0	0	HPO
10269	ZMPSTE24	C0575167	Deformity of neck	0.2	0	0	HPO
10269	ZMPSTE24	C0575535	Thin clavicle	0.2	0	0	HPO
10269	ZMPSTE24	C0578038	Thin lips	0.2	0	0	HPO
10269	ZMPSTE24	C0595939	Stillbirth	0.2	0	0	HPO
10269	ZMPSTE24	C0836924	Thrombocytosis	0.2	0	0	HPO
10269	ZMPSTE24	C0854110	Insulin resistant diabetes	0.2	0	0	HPO
10269	ZMPSTE24	C0856863	Broad-based gait	0.2	0	0	HPO
10269	ZMPSTE24	C0857379	Auricular malformation	0.2	0	0	HPO
10269	ZMPSTE24	C0857460	Increased number of platelets	0.2	0	0	HPO
10269	ZMPSTE24	C0860439	Mottled pigmentation	0.2	0	0	HPO
10269	ZMPSTE24	C0877165	Short phalanx of finger	0.2	0	0	HPO
10269	ZMPSTE24	C0917990	Acro-Osteolysis	0.200274726784213	2	0	CTD_human
10269	ZMPSTE24	C1136321	HIV-Associated Lipodystrophy Syndrome	0.2	1	0	CTD_human
10269	ZMPSTE24	C1280433	Lipoatrophy	0.2	0	0	HPO
10269	ZMPSTE24	C1317785	Tooth size discrepancy	0.2	0	0	HPO
10269	ZMPSTE24	C1386048	Intrauterine retardation	0.2	0	0	HPO
10269	ZMPSTE24	C1691215	Penile hypospadias	0.2	0	0	HPO
10269	ZMPSTE24	C1832446	Sparse eyebrow	0.2	0	0	HPO
10269	ZMPSTE24	C1833325	Thin bony cortex	0.2	0	0	HPO
10269	ZMPSTE24	C1833762	Soft calvaria	0.2	0	0	HPO
10269	ZMPSTE24	C1834405	Nail dysplasia	0.2	0	0	HPO
10269	ZMPSTE24	C1835384	Loss of truncal adipose tissue	0.2	0	0	HPO
10269	ZMPSTE24	C1835581	Large protruding ears	0.2	0	0	HPO
10269	ZMPSTE24	C1837260	Prominent forehead	0.2	0	0	HPO
10269	ZMPSTE24	C1837756	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	0.6	3	7	CTD_human;ORPHANET;UNIPROT
10269	ZMPSTE24	C1837757	Progressive acroosteolysis of the clavicle	0.2	0	0	HPO
10269	ZMPSTE24	C1837758	Bird-like facies	0.2	0	0	HPO
10269	ZMPSTE24	C1837760	Prominent eyes	0.2	0	0	HPO
10269	ZMPSTE24	C1837761	Narrow nasal ridge	0.2	0	0	HPO
10269	ZMPSTE24	C1837763	Decreased adipose tissue around neck	0.2	0	0	HPO
10269	ZMPSTE24	C1837764	Loss of subcutaneous adipose tissue in limbs	0.2	0	0	HPO
10269	ZMPSTE24	C1837767	Loss of facial adipose tissue	0.2	0	0	HPO
10269	ZMPSTE24	C1837770	Sparse hair	0.2	0	0	HPO
10269	ZMPSTE24	C1839829	Short distal phalanges	0.2	0	0	HPO
10269	ZMPSTE24	C1843005	Absent eyelashes	0.2	0	0	HPO
10269	ZMPSTE24	C1843300	Sparse eyelashes	0.2	0	0	HPO
10269	ZMPSTE24	C1845112	Hyperkyphosis	0.2	0	0	HPO
10269	ZMPSTE24	C1846223	Adrenal hypoplasia	0.2	0	0	HPO
10269	ZMPSTE24	C1846228	Absence of pubertal development	0.2	0	0	HPO
10269	ZMPSTE24	C1846438	Hypoplastic facial bones	0.2	0	0	HPO
10269	ZMPSTE24	C1848490	Protruding eyes	0.2	0	0	HPO
10269	ZMPSTE24	C1848570	Large, floppy ears	0.2	0	0	HPO
10269	ZMPSTE24	C1848760	Increased anterioposterior diameter of chest	0.2	0	0	HPO
10269	ZMPSTE24	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
10269	ZMPSTE24	C1848769	Overtubulated long bones	0.2	0	0	HPO
10269	ZMPSTE24	C1848771	Prominent superficial vasculature	0.2	0	0	HPO
10269	ZMPSTE24	C1848773	Epidermal hyperkeratosis	0.2	0	0	HPO
10269	ZMPSTE24	C1849039	Metaphyseal widening	0.2	0	0	HPO
10269	ZMPSTE24	C1849300	Widely patent fontanels and sutures	0.2	0	0	HPO
10269	ZMPSTE24	C1849547	Acro-osteolysis of distal phalanges	0.2	0	0	HPO
10269	ZMPSTE24	C1850189	Large pinnae	0.2	0	0	HPO
10269	ZMPSTE24	C1850530	Flexion contractures of joints	0.2	0	0	HPO
10269	ZMPSTE24	C1851792	Aplasia/Hypoplasia of the earlobes	0.2	0	0	HPO
10269	ZMPSTE24	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
10269	ZMPSTE24	C1854114	Short nose	0.2	0	0	HPO
10269	ZMPSTE24	C1855062	Large dysplastic ears	0.2	0	0	HPO
10269	ZMPSTE24	C1855665	Ovoid vertebral bodies	0.2	0	0	HPO
10269	ZMPSTE24	C1856542	Prominent scalp veins	0.2	0	0	HPO
10269	ZMPSTE24	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10269	ZMPSTE24	C1857665	Aplastic clavicles	0.2	0	0	HPO
10269	ZMPSTE24	C1857710	Wizened face	0.2	0	0	HPO
10269	ZMPSTE24	C1860121	Decreased testosterone in males	0.2	0	0	HPO
10269	ZMPSTE24	C1860838	Large prominent ears	0.2	0	0	HPO
10269	ZMPSTE24	C1860844	Thin, sparse hair	0.2	0	0	HPO
10269	ZMPSTE24	C1862425	Prominent globes	0.2	0	0	HPO
10269	ZMPSTE24	C1867114	Craniofacial disproportion	0.2	0	0	HPO
10269	ZMPSTE24	C1867446	Bulging forehead	0.2	0	0	HPO
10269	ZMPSTE24	C1867743	Coronary artery disease, premature	0.2	0	0	HPO
10269	ZMPSTE24	C1970705	Fragile hair	0.2	0	0	HPO
10269	ZMPSTE24	C2266639	Absence of eyebrows	0.2	0	0	HPO
10269	ZMPSTE24	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10269	ZMPSTE24	C2711227	Steatohepatitis	0.2	0	0	HPO
10269	ZMPSTE24	C2930821	Keratitis sicca	0.2	0	0	HPO
10269	ZMPSTE24	C3279575	Reticulate skin pigmentation	0.2	0	0	HPO
10269	ZMPSTE24	C3279601	Reticular pigmentation pattern	0.2	0	0	HPO
10269	ZMPSTE24	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
10269	ZMPSTE24	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
10269	ZMPSTE24	C3810018	Bilateral coxa valga	0.2	0	0	HPO
10269	ZMPSTE24	C3887524	Skin Erosion	0.2	0	0	HPO
10269	ZMPSTE24	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
10269	ZMPSTE24	C4020844	Bullet vertebral body	0.2	0	0	HPO
10269	ZMPSTE24	C4020879	Stippled pigmentation	0.2	0	0	HPO
10269	ZMPSTE24	C4020894	Submucous clefting	0.2	0	0	HPO
10269	ZMPSTE24	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10269	ZMPSTE24	C4020957	Abnormal trabecular bone morphology	0.2	0	0	HPO
10269	ZMPSTE24	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
10269	ZMPSTE24	C4021998	Lack of skin elasticity	0.2	0	0	HPO
10269	ZMPSTE24	C4024993	Aplasia/Hypoplasia of the clavicles	0.2	0	0	HPO
10269	ZMPSTE24	C4025078	Tapering pointed ends of distal finger phalanges	0.2	0	0	HPO
10269	ZMPSTE24	C4025270	Arteriosclerosis of small cerebral arteries	0.2	0	0	HPO
10269	ZMPSTE24	C4025739	Acroosteolysis of distal phalanges (feet)	0.2	0	0	HPO
10269	ZMPSTE24	C4025796	Abnormality of the fingertips	0.2	0	0	HPO
10269	ZMPSTE24	C4072820	Large bregma sutures	0.2	0	0	HPO
10269	ZMPSTE24	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
10269	ZMPSTE24	C4072822	Wide bregma sutures	0.2	0	0	HPO
10269	ZMPSTE24	C4072837	Fractured hair	0.2	0	0	HPO
10269	ZMPSTE24	C4229090	Small facial bones	0.2	0	0	HPO
10269	ZMPSTE24	C4280268	Underdevelopment of facial bones	0.2	0	0	HPO
10269	ZMPSTE24	C4280505	Hardened artery wall in small cerebral arteries	0.2	0	0	HPO
10269	ZMPSTE24	C4280557	Hypotrophic facial bones	0.2	0	0	HPO
10269	ZMPSTE24	C4280558	Flattening of facial bones	0.2	0	0	HPO
10269	ZMPSTE24	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
10269	ZMPSTE24	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
10269	ZMPSTE24	C4280626	Aplasia of eyelashes	0.2	0	0	HPO
10269	ZMPSTE24	C4280627	Failure of development of eyelashes	0.2	0	0	HPO
10269	ZMPSTE24	C4280628	Malformation of the neck	0.2	0	0	HPO
1027	CDKN1B	C0001206	Acromegaly	0.203231208875927	0	0	HPO
1027	CDKN1B	C0007095	Carcinoid Tumor	0.20328236603324	0	0	HPO
1027	CDKN1B	C0011991	Diarrhea	0.2	0	0	HPO
1027	CDKN1B	C0014868	Esophagitis	0.2	0	0	HPO
1027	CDKN1B	C0020437	Hypercalcemia	0.2	0	0	HPO
1027	CDKN1B	C0020502	Hyperparathyroidism	0.200824180352639	0	0	HPO
1027	CDKN1B	C0021670	insulinoma	0.2	0	0	HPO
1027	CDKN1B	C0021841	Intestinal Neoplasms	0.200274726784213	1	0	CTD_human
1027	CDKN1B	C0022665	Kidney Neoplasm	0.2	1	0	CTD_human
1027	CDKN1B	C0023903	Liver neoplasms	0.201648360705279	1	0	CTD_human
1027	CDKN1B	C0024121	Lung Neoplasms	0.203007639249027	3	0	CTD_human
1027	CDKN1B	C0025267	Multiple Endocrine Neoplasia Type 1	0.214298469424775	0	0	ORPHANET
1027	CDKN1B	C0025500	Mesothelioma	0.200274726784213	1	0	CTD_human
1027	CDKN1B	C0030920	Peptic Ulcer	0.2	0	0	HPO
1027	CDKN1B	C0032000	Pituitary Adenoma	0.203296721410557	0	0	HPO
1027	CDKN1B	C0032019	Pituitary Neoplasms	0.207337755261807	1	0	CTD_human
1027	CDKN1B	C0033375	Prolactinoma	0.200549453568426	0	0	HPO
1027	CDKN1B	C0033578	Prostatic Neoplasms	0.233842699557305	2	0	CTD_human
1027	CDKN1B	C0034885	Rectal Neoplasms	0.2	1	0	CTD_human
1027	CDKN1B	C0036920	Sezary Syndrome	0.2	1	0	CTD_human
1027	CDKN1B	C0038356	Stomach Neoplasms	0.202732912464814	1	0	CTD_human
1027	CDKN1B	C0042138	Uterine Neoplasms	0.2	1	0	CTD_human
1027	CDKN1B	C0043515	Zollinger-Ellison syndrome	0.2	0	0	HPO
1027	CDKN1B	C0079487	Helicobacter Infections	0.2	1	0	CTD_human
1027	CDKN1B	C0151468	Thyroid Gland Follicular Adenoma	0.2	0	0	HPO
1027	CDKN1B	C0206667	Adrenal Cortical Adenoma	0.2	0	0	HPO
1027	CDKN1B	C0206669	Hepatocellular Adenoma	0.2	1	0	CTD_human
1027	CDKN1B	C0206731	Angiofibroma	0.2	0	0	HPO
1027	CDKN1B	C0206754	Neuroendocrine Tumors	0.203557092817453	1	3	CTD_human
1027	CDKN1B	C0235986	Growth hormone excess	0.2	0	0	HPO
1027	CDKN1B	C0241961	Angiomyolipoma of kidney	0.2	0	0	HPO
1027	CDKN1B	C0262527	intermittent abdominal pain	0.2	0	0	HPO
1027	CDKN1B	C0262587	Parathyroid Adenoma	0.200824180352639	0	0	HPO
1027	CDKN1B	C0263454	Chloracne	0.2	1	0	CTD_human
1027	CDKN1B	C0271844	Parathyroid hyperplasia	0.2	0	0	HPO
1027	CDKN1B	C0282612	Prostatic Intraepithelial Neoplasias	0.203007639249027	1	0	CTD_human
1027	CDKN1B	C0338078	Non-Functioning Pituitary Gland Neoplasm	0.2	0	0	HPO
1027	CDKN1B	C0857973	Increased serum parathyroid hormone	0.2	0	0	HPO
1027	CDKN1B	C0919267	ovarian neoplasm	0.20328236603324	1	0	CTD_human
1027	CDKN1B	C1403035	Subcutaneous lipomas	0.2	0	0	HPO
1027	CDKN1B	C1458155	Mammary Neoplasms	0.239359681644245	1	0	CTD_human
1027	CDKN1B	C1864903	Hyperinsulinaemic hypoglycaemia	0.2	0	0	HPO
1027	CDKN1B	C1864954	Hyperinsulinemia, fasting	0.2	0	0	HPO
1027	CDKN1B	C1970712	Multiple Endocrine Neoplasia, Type IV	0.402197814273705	0	0	CTD_human;ORPHANET
1027	CDKN1B	C2239176	Liver carcinoma	0.226222126485924	1	0	CTD_human
1027	CDKN1B	C3808022	Abdominal pain, episodic	0.2	0	0	HPO
1027	CDKN1B	C4018860	Pituitary growth hormone cell adenoma	0.2	0	0	HPO
10270	AKAP8	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
10270	AKAP8	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
10273	STUB1	C0013362	Dysarthria	0.2	0	0	HPO
10273	STUB1	C0231686	Gait, Unsteady	0.2	0	0	HPO
10273	STUB1	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10273	STUB1	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
10273	STUB1	C0427190	Ataxia, Truncal	0.2	0	0	HPO
10273	STUB1	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10273	STUB1	C0750937	Ataxia, Appendicular	0.2	0	0	HPO
10273	STUB1	C1864985	Progressive disorder	0.2	0	0	HPO
10273	STUB1	C4014261	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	0.4	4	10	ORPHANET;UNIPROT
10273	STUB1	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10273	STUB1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10279	PRSS16	C0036341	Schizophrenia	0.200549453568426	2	0	PSYGENET
1028	CDKN1C	C0001418	Adenocarcinoma	0.2	1	0	CTD_human
1028	CDKN1C	C0004903	Beckwith-Wiedemann Syndrome	0.427979065857785	2	17	CTD_human;UNIPROT
1028	CDKN1C	C0010417	Cryptorchidism	0.2	0	0	HPO
1028	CDKN1C	C0014170	Endometrial Neoplasms	0.2	1	0	CTD_human
1028	CDKN1C	C0014173	Endometrial Hyperplasia	0.2	1	0	CTD_human
1028	CDKN1C	C0015300	Exophthalmos	0.2	0	0	HPO
1028	CDKN1C	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1028	CDKN1C	C0018800	Cardiomegaly	0.2	0	0	HPO
1028	CDKN1C	C0019209	Hepatomegaly	0.2	0	0	HPO
1028	CDKN1C	C0020295	Hydronephrosis	0.2	0	0	HPO
1028	CDKN1C	C0020437	Hypercalcemia	0.2	0	0	HPO
1028	CDKN1C	C0020438	Hypercalciuria	0.2	0	0	HPO
1028	CDKN1C	C0020619	Hypogonadism	0.2	0	0	HPO
1028	CDKN1C	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1028	CDKN1C	C0024121	Lung Neoplasms	0.2	2	0	CTD_human
1028	CDKN1C	C0024421	Macroglossia	0.200274726784213	0	0	HPO
1028	CDKN1C	C0025202	melanoma	0.200274726784213	1	0	CTD_human
1028	CDKN1C	C0025995	Micromelia	0.2	0	0	HPO
1028	CDKN1C	C0026827	Muscle hypotonia	0.2	0	0	HPO
1028	CDKN1C	C0027708	Nephroblastoma	0.203021994626344	0	0	HPO
1028	CDKN1C	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1028	CDKN1C	C0158986	Neonatal hypoglycemia	0.2	0	0	HPO
1028	CDKN1C	C0206624	Hepatoblastoma	0.200274726784213	0	0	HPO
1028	CDKN1C	C0206661	Gonadoblastoma	0.2	0	0	HPO
1028	CDKN1C	C0206686	Adrenocortical carcinoma	0.200274726784213	0	0	HPO
1028	CDKN1C	C0221354	Frontal bossing	0.2	0	0	HPO
1028	CDKN1C	C0221766	Diastasis recti	0.2	0	0	HPO
1028	CDKN1C	C0239234	Low set ears	0.2	0	0	HPO
1028	CDKN1C	C0241355	Small testicle	0.2	0	0	HPO
1028	CDKN1C	C0265294	Pyle metaphyseal dysplasia	0.2	0	0	HPO
1028	CDKN1C	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1028	CDKN1C	C0266589	Congenital ear anomaly NOS (disorder)	0.200274726784213	0	0	HPO
1028	CDKN1C	C0332890	Congenital hemihypertrophy	0.200274726784213	0	0	HPO
1028	CDKN1C	C0342491	Small adrenal gland	0.2	0	0	HPO
1028	CDKN1C	C0349588	Short stature	0.2	0	0	HPO
1028	CDKN1C	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1028	CDKN1C	C0426414	Small nose	0.2	0	0	HPO
1028	CDKN1C	C0456132	Large fontanelle	0.2	0	0	HPO
1028	CDKN1C	C0541764	Delayed bone age	0.2	0	0	HPO
1028	CDKN1C	C0542518	Enlarged kidney	0.2	0	0	HPO
1028	CDKN1C	C0545053	Advanced bone age	0.2	0	0	HPO
1028	CDKN1C	C0795690	Congenital omphalocele	0.201373633921065	0	0	HPO
1028	CDKN1C	C0878544	Cardiomyopathies	0.2	0	0	HPO
1028	CDKN1C	C1386048	Intrauterine retardation	0.2	0	0	HPO
1028	CDKN1C	C1691215	Penile hypospadias	0.2	0	0	HPO
1028	CDKN1C	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1028	CDKN1C	C1837260	Prominent forehead	0.2	0	0	HPO
1028	CDKN1C	C1837760	Prominent eyes	0.2	0	0	HPO
1028	CDKN1C	C1845847	Coarse facial features	0.2	0	0	HPO
1028	CDKN1C	C1846009	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	0.401923087489492	1	7	ORPHANET;UNIPROT
1028	CDKN1C	C1846223	Adrenal hypoplasia	0.2	0	0	HPO
1028	CDKN1C	C1848490	Protruding eyes	0.2	0	0	HPO
1028	CDKN1C	C1849265	Overgrowth	0.2	0	0	HPO
1028	CDKN1C	C1851720	Adrenocortical cytomegaly	0.2	0	0	HPO
1028	CDKN1C	C1851722	Overgrowth of external genitalia	0.2	0	0	HPO
1028	CDKN1C	C1851731	Generalized overgrowth	0.2	0	0	HPO
1028	CDKN1C	C1851733	Pancreatic hyperplasia	0.2	0	0	HPO
1028	CDKN1C	C1853737	Prominent occiput	0.2	0	0	HPO
1028	CDKN1C	C1854114	Short nose	0.2	0	0	HPO
1028	CDKN1C	C1859778	Postnatal growth retardation	0.2	0	0	HPO
1028	CDKN1C	C1862425	Prominent globes	0.2	0	0	HPO
1028	CDKN1C	C1867446	Bulging forehead	0.2	0	0	HPO
1028	CDKN1C	C3150281	Fetal overgrowth	0.2	0	0	HPO
1028	CDKN1C	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1028	CDKN1C	C3714796	Isolated somatotropin deficiency	0.2	0	0	HPO
1028	CDKN1C	C4072820	Large bregma sutures	0.2	0	0	HPO
1028	CDKN1C	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
1028	CDKN1C	C4072822	Wide bregma sutures	0.2	0	0	HPO
1028	CDKN1C	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
1028	CDKN1C	C4280495	Concave bridge of nose	0.2	0	0	HPO
1028	CDKN1C	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1028	CDKN1C	C4280652	Prominent back of the head	0.2	0	0	HPO
10280	SIGMAR1	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
10280	SIGMAR1	C0002622	Amnesia	0.200274726784213	1	0	CTD_human
10280	SIGMAR1	C0002736	Amyotrophic Lateral Sclerosis	0.402197814273705	1	0	CTD_human;HPO
10280	SIGMAR1	C0013362	Dysarthria	0.2	0	0	HPO
10280	SIGMAR1	C0019693	HIV Infections	0.2	1	0	CTD_human
10280	SIGMAR1	C0023186	Learning Disorders	0.2	1	0	CTD_human
10280	SIGMAR1	C0025261	Memory Disorders	0.2	1	0	CTD_human
10280	SIGMAR1	C0026838	Muscle Spasticity	0.2	0	0	HPO
10280	SIGMAR1	C0026847	Spinal Muscular Atrophy	0.2	0	0	HPO
10280	SIGMAR1	C0033054	Prenatal Exposure Delayed Effects	0.2	1	0	CTD_human
10280	SIGMAR1	C0034935	Babinski Reflex	0.2	0	0	HPO
10280	SIGMAR1	C0036341	Schizophrenia	0.211001748014218	4	0	PSYGENET
10280	SIGMAR1	C0036572	Seizures	0.2	1	0	CTD_human
10280	SIGMAR1	C0085684	Foot-drop	0.2	0	0	HPO
10280	SIGMAR1	C0151889	Hyperreflexia	0.2	0	0	HPO
10280	SIGMAR1	C0234132	Pyramidal sign	0.2	0	0	HPO
10280	SIGMAR1	C0236736	Cocaine-Related Disorders	0.2	2	0	CTD_human
10280	SIGMAR1	C0427065	Distal muscle weakness	0.2	0	0	HPO
10280	SIGMAR1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
10280	SIGMAR1	C0525045	Mood Disorders	0.2	1	0	PSYGENET
10280	SIGMAR1	C0575081	Gait abnormality	0.2	0	0	HPO
10280	SIGMAR1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
10280	SIGMAR1	C0728829	Congenital pes cavus	0.2	0	0	HPO
10280	SIGMAR1	C0751072	Frontotemporal Lobar Degeneration	0.200824180352639	1	0	CTD_human
10280	SIGMAR1	C1136179	Hammer Toe	0.2	0	0	HPO
10280	SIGMAR1	C1837108	Decreased muscle mass	0.2	0	0	HPO
10280	SIGMAR1	C1848736	Distal amyotrophy	0.2	0	0	HPO
10280	SIGMAR1	C1854023	Spinal muscular atrophy, Jerash type	0.2	0	0	ORPHANET
10280	SIGMAR1	C1854494	Slow progression	0.2	0	0	HPO
10280	SIGMAR1	C1858729	Decreased motor NCV	0.2	0	0	HPO
10280	SIGMAR1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
10280	SIGMAR1	C1864985	Progressive disorder	0.2	0	0	HPO
10280	SIGMAR1	C1865412	Abnormal lower motor neuron morphology	0.2	0	0	HPO
10280	SIGMAR1	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
10280	SIGMAR1	C3280587	AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	0.2	1	2	UNIPROT
10280	SIGMAR1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10280	SIGMAR1	C4025720	Pseudobulbar behavioral symptoms	0.2	0	0	HPO
10280	SIGMAR1	C4025723	Abnormal upper motor neuron morphology	0.2	0	0	HPO
1029	CDKN2A	C0001418	Adenocarcinoma	0.263722406501903	1	0	CTD_human
1029	CDKN2A	C0001624	Adrenal Gland Neoplasms	0.2	1	0	CTD_human
1029	CDKN2A	C0004114	Astrocytoma	0.215905442729725	0	0	HPO
1029	CDKN2A	C0005695	Bladder Neoplasm	0.235324912144952	2	0	CTD_human
1029	CDKN2A	C0006118	Brain Neoplasms	0.216156044379637	2	0	CTD_human
1029	CDKN2A	C0007131	Non-Small Cell Lung Carcinoma	0.233725881923581	2	0	CTD_human
1029	CDKN2A	C0007137	Squamous cell carcinoma	0.55137612800647	1	0	CTD_human;HPO
1029	CDKN2A	C0008628	Chromosome Deletion	0.2	1	0	CTD_human
1029	CDKN2A	C0011570	Mental Depression	0.200274726784213	3	0	PSYGENET
1029	CDKN2A	C0011581	Depressive disorder	0.200274726784213	3	0	PSYGENET
1029	CDKN2A	C0014859	Esophageal Neoplasms	0.221621869309264	1	0	CTD_human
1029	CDKN2A	C0016689	Freckles	0.2	0	0	HPO
1029	CDKN2A	C0017601	Glaucoma	0.200824180352639	1	0	CTD_human
1029	CDKN2A	C0017638	Glioma	0.253787349464875	2	0	CTD_human
1029	CDKN2A	C0022783	Vulvar Lichen Sclerosus	0.200549453568426	1	0	CTD_human
1029	CDKN2A	C0023903	Liver neoplasms	0.203296721410557	3	0	CTD_human
1029	CDKN2A	C0024121	Lung Neoplasms	0.244579490544294	4	0	CTD_human
1029	CDKN2A	C0024228	Lymphatic Diseases	0.2	0	0	HPO
1029	CDKN2A	C0024299	Lymphoma	0.223517924775745	1	0	CTD_human
1029	CDKN2A	C0025202	melanoma	0.64	1	0	CTD_human;HPO
1029	CDKN2A	C0025500	Mesothelioma	0.222195448011992	1	0	CTD_human
1029	CDKN2A	C0026640	Mouth Neoplasms	0.21328752122523	1	0	CTD_human
1029	CDKN2A	C0026764	Multiple Myeloma	0.215081262377086	1	0	CTD_human
1029	CDKN2A	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1029	CDKN2A	C0027819	Neuroblastoma	0.208776901717502	1	0	CTD_human
1029	CDKN2A	C0027960	Nevus	0.206737144536068	0	0	HPO
1029	CDKN2A	C0027962	Melanocytic nevus	0.208227448149076	0	0	HPO
1029	CDKN2A	C0030297	Pancreatic Neoplasm	0.23396395486958	2	0	CTD_human
1029	CDKN2A	C0031117	Peripheral Neuropathy	0.2	1	0	CTD_human
1029	CDKN2A	C0032927	Precancerous Conditions	0.214154767709821	1	0	CTD_human
1029	CDKN2A	C0036920	Sezary Syndrome	0.202732912464814	1	0	CTD_human
1029	CDKN2A	C0038356	Stomach Neoplasms	0.210345394510833	1	0	CTD_human
1029	CDKN2A	C0040100	Thymoma	0.200274726784213	1	0	CTD_human
1029	CDKN2A	C0040715	Chromosomal translocation	0.2	2	0	CTD_human
1029	CDKN2A	C0041107	Trisomy	0.200274726784213	1	0	CTD_human
1029	CDKN2A	C0041696	Unipolar Depression	0.2	2	0	PSYGENET
1029	CDKN2A	C0042065	Genitourinary Neoplasms	0.2	1	0	CTD_human
1029	CDKN2A	C0079744	Diffuse Large B-Cell Lymphoma	0.206868169605328	1	0	CTD_human
1029	CDKN2A	C0079773	Lymphoma, T-Cell, Cutaneous	0.200824180352639	1	0	CTD_human
1029	CDKN2A	C0151779	Cutaneous Melanoma	0.22383571769191	1	0	CTD_human
1029	CDKN2A	C0151908	Dry skin	0.2	0	0	HPO
1029	CDKN2A	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1029	CDKN2A	C0206686	Adrenocortical carcinoma	0.200549453568426	1	0	CTD_human
1029	CDKN2A	C0206727	Nerve Sheath Tumors	0.204655999954305	1	0	CTD_human
1029	CDKN2A	C0259817	Xerosis	0.2	0	0	HPO
1029	CDKN2A	C0279626	Squamous cell carcinoma of esophagus	0.214220280244451	1	1	CTD_human
1029	CDKN2A	C0279628	Adenocarcinoma Of Esophagus	0.203296721410557	1	0	CTD_human
1029	CDKN2A	C0280313	Squamous cell carcinoma of oropharynx	0.209615437447459	0	0	HPO
1029	CDKN2A	C0281361	Adenocarcinoma of pancreas	0.20439562854741	0	0	HPO
1029	CDKN2A	C0345967	Malignant mesothelioma	0.206318716036901	2	0	CTD_human
1029	CDKN2A	C0596263	Carcinogenesis	0.28	1	0	CTD_human
1029	CDKN2A	C0677866	Brain Stem Neoplasms	0.2	1	0	CTD_human
1029	CDKN2A	C0751688	Malignant Squamous Cell Neoplasm	0.204670355331623	0	0	HPO
1029	CDKN2A	C0887833	Carcinoma, Pancreatic Ductal	0.20350593566014	1	0	CTD_human
1029	CDKN2A	C1168401	Squamous cell carcinoma of the head and neck	0.222527596305474	2	0	CTD_human
1029	CDKN2A	C1261473	Sarcoma	0.208776901717502	0	0	HPO
1029	CDKN2A	C1269683	Major Depressive Disorder	0.200274726784213	2	0	PSYGENET
1029	CDKN2A	C1449861	Micronuclei, Chromosome-Defective	0.2	1	0	CTD_human
1029	CDKN2A	C1458155	Mammary Neoplasms	0.238172815570084	1	0	CTD_human
1029	CDKN2A	C1512419	Hereditary Melanoma	0.226582985534041	0	0	ORPHANET
1029	CDKN2A	C1835042	Melanoma astrocytoma syndrome	0.400274726784213	0	0	CTD_human;ORPHANET
1029	CDKN2A	C1835044	MELANOMA, CUTANEOUS MALIGNANT, 2	0.4	11	13	CTD_human;UNIPROT
1029	CDKN2A	C1835047	MELANOMA, CUTANEOUS MALIGNANT, 1	0.2	0	0	ORPHANET
1029	CDKN2A	C1835398	LI-FRAUMENI SYNDROME 1	0.2	0	0	CTD_human
1029	CDKN2A	C1838547	MELANOMA-PANCREATIC CANCER SYNDROME	0.4	0	0	CTD_human;UNIPROT
1029	CDKN2A	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.227977387126161	1	0	CTD_human
1029	CDKN2A	C2239176	Liver carcinoma	0.254801803069448	1	0	CTD_human
1029	CDKN2A	C2675993	Pancreatic squamous cell carcinoma	0.2	0	0	HPO
1029	CDKN2A	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1029	CDKN2A	C2931038	Pancreatic carcinoma, familial	0.203021994626344	0	0	ORPHANET
1029	CDKN2A	C2931822	Nasopharyngeal carcinoma	0.206318716036901	1	0	CTD_human
1029	CDKN2A	C4021976	Abnormality of the lymphatic system	0.2	0	0	HPO
10290	SPEG	C0007193	Cardiomyopathy, Dilated	0.200274726784213	0	0	HPO
10290	SPEG	C0025990	Micrognathism	0.2	0	0	HPO
10290	SPEG	C0026034	Microstomia	0.2	0	0	HPO
10290	SPEG	C0029089	Ophthalmoplegia	0.2	0	0	HPO
10290	SPEG	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
10290	SPEG	C0234146	Absent reflex	0.2	0	0	HPO
10290	SPEG	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10290	SPEG	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10290	SPEG	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10290	SPEG	C0278124	Absent tendon reflex	0.2	0	0	HPO
10290	SPEG	C0376175	Bell Palsy	0.2	0	0	HPO
10290	SPEG	C0409354	Flexion contracture of hip	0.2	0	0	HPO
10290	SPEG	C0410204	Myopathy, Centronuclear, Autosomal Recessive	0.2	0	0	ORPHANET
10290	SPEG	C0427055	Facial Paresis	0.2	0	0	HPO
10290	SPEG	C1839630	Hypotonia, severe	0.2	0	0	HPO
10290	SPEG	C1843697	Axial muscle weakness	0.2	0	0	HPO
10290	SPEG	C1848924	Infantile onset	0.2	0	0	HPO
10290	SPEG	C1854301	Motor delay	0.2	0	0	HPO
10290	SPEG	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10290	SPEG	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
10290	SPEG	C3494422	Retrognathia	0.2	0	0	HPO
10290	SPEG	C4014814	MYOPATHY, CENTRONUCLEAR, 5	0.2	1	5	UNIPROT
10290	SPEG	C4020855	Respiratory function loss	0.2	0	0	HPO
10290	SPEG	C4020874	No development of motor milestones	0.2	0	0	HPO
10290	SPEG	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10293	TRAIP	C0006625	Cachexia	0.2	0	0	HPO
10293	TRAIP	C0010278	Craniosynostosis	0.2	0	0	HPO
10293	TRAIP	C0013336	Dwarfism	0.200274726784213	1	0	CTD_human
10293	TRAIP	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10293	TRAIP	C0017601	Glaucoma	0.2	0	0	HPO
10293	TRAIP	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
10293	TRAIP	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10293	TRAIP	C0025362	Mental Retardation	0.2	0	0	HPO
10293	TRAIP	C0025958	Microcephaly	0.200274726784213	1	0	CTD_human
10293	TRAIP	C0025990	Micrognathism	0.2	0	0	HPO
10293	TRAIP	C0235942	Skull malformation	0.2	0	0	HPO
10293	TRAIP	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10293	TRAIP	C0240538	Convex nasal ridge	0.2	0	0	HPO
10293	TRAIP	C0265202	Seckel syndrome	0.2	0	0	ORPHANET
10293	TRAIP	C0338656	Impaired cognition	0.2	0	0	HPO
10293	TRAIP	C0349588	Short stature	0.2	0	0	HPO
10293	TRAIP	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
10293	TRAIP	C0423903	Low intelligence	0.2	0	0	HPO
10293	TRAIP	C0424688	Small head	0.2	0	0	HPO
10293	TRAIP	C0541764	Delayed bone age	0.2	0	0	HPO
10293	TRAIP	C0683322	Mental impairment	0.2	0	0	HPO
10293	TRAIP	C0917816	Mental deficiency	0.2	0	0	HPO
10293	TRAIP	C1386048	Intrauterine retardation	0.2	0	0	HPO
10293	TRAIP	C1837463	Narrow face	0.2	0	0	HPO
10293	TRAIP	C1840069	Sandal gap	0.2	0	0	HPO
10293	TRAIP	C1843367	Poor school performance	0.2	0	0	HPO
10293	TRAIP	C1849121	Thin face	0.2	0	0	HPO
10293	TRAIP	C1849364	Absent earlobe	0.2	0	0	HPO
10293	TRAIP	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10293	TRAIP	C1857042	Sparse scalp hair	0.2	0	0	HPO
10293	TRAIP	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10293	TRAIP	C1857656	Precociously senile appearance	0.2	0	0	HPO
10293	TRAIP	C1865037	Cone-shaped epiphyses	0.2	0	0	HPO
10293	TRAIP	C2229182	Psychomotor retardation, mild	0.2	0	0	HPO
10293	TRAIP	C2749675	Cortical gyral simplification	0.2	0	0	HPO
10293	TRAIP	C3553764	Joint hyperflexibility	0.2	0	0	HPO
10293	TRAIP	C3714756	Intellectual Disability	0.2	0	0	HPO
10293	TRAIP	C4012968	Mild global developmental delay	0.2	0	0	HPO
10293	TRAIP	C4020876	Dull intelligence	0.2	0	0	HPO
10293	TRAIP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10293	TRAIP	C4021800	Enamel abnormalities	0.2	0	0	HPO
10293	TRAIP	C4024202	Reduced number of teeth	0.2	0	0	HPO
10293	TRAIP	C4083050	Agenesis of teeth	0.2	0	0	HPO
10293	TRAIP	C4225212	SECKEL SYNDROME 9	0.2	1	2	UNIPROT
10293	TRAIP	C4280262	Dystrophic tooth enamel	0.2	0	0	HPO
10293	TRAIP	C4280538	Curvature of little finger	0.2	0	0	HPO
10293	TRAIP	C4280615	Defective tooth enamel	0.2	0	0	HPO
10296	MAEA	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200549453568426	1	1	CTD_human
10297	APC2	C0009404	Colorectal Neoplasms	0.2	3	0	CTD_human
10297	APC2	C0018777	Conductive hearing loss	0.2	0	0	HPO
10297	APC2	C0020534	Orbital separation excessive	0.2	0	0	HPO
10297	APC2	C0020615	Hypoglycemia	0.2	0	0	HPO
10297	APC2	C0021390	Inflammatory Bowel Diseases	0.200274726784213	1	0	CTD_human
10297	APC2	C0025362	Mental Retardation	0.2	0	0	HPO
10297	APC2	C0026827	Muscle hypotonia	0.2	0	0	HPO
10297	APC2	C0028754	Obesity	0.2	0	0	HPO
10297	APC2	C0034013	Precocious Puberty	0.2	0	0	HPO
10297	APC2	C0152421	Macrotia	0.2	0	0	HPO
10297	APC2	C0175695	Sotos' syndrome	0.2	0	0	ORPHANET
10297	APC2	C0221354	Frontal bossing	0.2	0	0	HPO
10297	APC2	C0221358	Long narrow head	0.2	0	0	HPO
10297	APC2	C0239676	High forehead	0.2	0	0	HPO
10297	APC2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10297	APC2	C0241240	Tall stature	0.2	0	0	HPO
10297	APC2	C0266054	Premature tooth eruption	0.2	0	0	HPO
10297	APC2	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10297	APC2	C0399526	Class III malocclusion	0.2	0	0	HPO
10297	APC2	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
10297	APC2	C0423903	Low intelligence	0.2	0	0	HPO
10297	APC2	C0545053	Advanced bone age	0.2	0	0	HPO
10297	APC2	C0554972	Large auricle	0.2	0	0	HPO
10297	APC2	C0557874	Global developmental delay	0.2	0	0	HPO
10297	APC2	C0917816	Mental deficiency	0.2	0	0	HPO
10297	APC2	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10297	APC2	C1835581	Large protruding ears	0.2	0	0	HPO
10297	APC2	C1837260	Prominent forehead	0.2	0	0	HPO
10297	APC2	C1840077	Anteverted nostril	0.2	0	0	HPO
10297	APC2	C1842876	Depressed nasal ridge	0.2	0	0	HPO
10297	APC2	C1843367	Poor school performance	0.2	0	0	HPO
10297	APC2	C1848570	Large, floppy ears	0.2	0	0	HPO
10297	APC2	C1850189	Large pinnae	0.2	0	0	HPO
10297	APC2	C1855062	Large dysplastic ears	0.2	0	0	HPO
10297	APC2	C1860838	Large prominent ears	0.2	0	0	HPO
10297	APC2	C1861866	Hypoplasia or absence of the corpus callosum	0.2	0	0	HPO
10297	APC2	C1864897	Cognitive delay	0.2	0	0	HPO
10297	APC2	C1867446	Bulging forehead	0.2	0	0	HPO
10297	APC2	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10297	APC2	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10297	APC2	C2677762	Tall forehead	0.2	0	0	HPO
10297	APC2	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10297	APC2	C3714756	Intellectual Disability	0.2	0	0	HPO
10297	APC2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10297	APC2	C4020876	Dull intelligence	0.2	0	0	HPO
10297	APC2	C4023616	Abnormality of immune system physiology	0.2	0	0	HPO
10297	APC2	C4083076	Increased head circumference	0.2	0	0	HPO
10297	APC2	C4255213	Increased size of skull	0.2	0	0	HPO
10297	APC2	C4280644	Increased size of mandible	0.2	0	0	HPO
10297	APC2	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10297	APC2	C4280653	Turridolichocephaly	0.2	0	0	HPO
10297	APC2	C4280654	Narrow skull shape	0.2	0	0	HPO
10297	APC2	C4280655	Narrow head shape	0.2	0	0	HPO
10297	APC2	C4280656	Narrow cranium shape	0.2	0	0	HPO
10297	APC2	C4280663	Increased size of cranium	0.2	0	0	HPO
10297	APC2	C4280664	Big calvaria	0.2	0	0	HPO
103	ADAR	C0013423	Dystonia Musculorum Deformans	0.2	0	0	HPO
103	ADAR	C0020796	Profound Mental Retardation	0.2	0	0	HPO
103	ADAR	C0026837	Muscle Rigidity	0.2	0	0	HPO
103	ADAR	C0026838	Muscle Spasticity	0.2	0	0	HPO
103	ADAR	C0040822	Tremor	0.2	0	0	HPO
103	ADAR	C0078982	Arhinencephaly	0.2	0	0	HPO
103	ADAR	C0332573	Macule	0.2	0	0	HPO
103	ADAR	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
103	ADAR	C0393591	AICARDI-GOUTIERES SYNDROME	0.201098907136852	0	0	ORPHANET
103	ADAR	C0406775	Symmetrical dyschromatosis of extremities	0.609890164231672	3	8	CTD_human;ORPHANET;UNIPROT
103	ADAR	C0521573	Coloboma of eyelid	0.2	0	0	HPO
103	ADAR	C0542223	Loss of speech	0.2	0	0	HPO
103	ADAR	C0557874	Global developmental delay	0.2	0	0	HPO
103	ADAR	C0745109	Macular hyperpigmentation	0.2	0	0	HPO
103	ADAR	C0795996	STRIATONIGRAL DEGENERATION, INFANTILE (disorder)	0.2	0	0	ORPHANET
103	ADAR	C0796126	AICARDI-GOUTIERES SYNDROME 1	0.201923087489492	1	0	CTD_human
103	ADAR	C1848924	Infantile onset	0.2	0	0	HPO
103	ADAR	C1849097	Loss of ability to walk	0.2	0	0	HPO
103	ADAR	C1864897	Cognitive delay	0.2	0	0	HPO
103	ADAR	C3161330	Profound intellectual disabilities	0.2	0	0	HPO
103	ADAR	C3539013	AICARDI-GOUTIERES SYNDROME 6	0.2	1	10	UNIPROT
103	ADAR	C4020875	Mental and motor retardation	0.2	0	0	HPO
103	ADAR	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
103	ADAR	C4024759	Macular hypopigmentation	0.2	0	0	HPO
103	ADAR	C4024877	Hyperpigmented/hypopigmented macules	0.2	0	0	HPO
103	ADAR	C4082173	Porencephaly	0.2	0	0	HPO
1030	CDKN2B	C0001206	Acromegaly	0.2	0	0	HPO
1030	CDKN2B	C0011991	Diarrhea	0.2	0	0	HPO
1030	CDKN2B	C0014868	Esophagitis	0.2	0	0	HPO
1030	CDKN2B	C0016689	Freckles	0.2	0	0	HPO
1030	CDKN2B	C0017601	Glaucoma	0.201098907136852	1	0	CTD_human
1030	CDKN2B	C0017638	Glioma	0.213265074822552	2	0	CTD_human
1030	CDKN2B	C0020437	Hypercalcemia	0.2	0	0	HPO
1030	CDKN2B	C0020502	Hyperparathyroidism	0.2	0	0	HPO
1030	CDKN2B	C0021670	insulinoma	0.200549453568426	0	0	HPO
1030	CDKN2B	C0024228	Lymphatic Diseases	0.2	0	0	HPO
1030	CDKN2B	C0024299	Lymphoma	0.205154296365419	1	0	CTD_human
1030	CDKN2B	C0025202	melanoma	0.223610469333386	0	0	HPO
1030	CDKN2B	C0025267	Multiple Endocrine Neoplasia Type 1	0.202407028523288	0	0	ORPHANET
1030	CDKN2B	C0027960	Nevus	0.202407028523288	0	0	HPO
1030	CDKN2B	C0027962	Melanocytic nevus	0.2	0	0	HPO
1030	CDKN2B	C0030920	Peptic Ulcer	0.2	0	0	HPO
1030	CDKN2B	C0033375	Prolactinoma	0.2	0	0	HPO
1030	CDKN2B	C0043515	Zollinger-Ellison syndrome	0.2	0	0	HPO
1030	CDKN2B	C0151468	Thyroid Gland Follicular Adenoma	0.2	0	0	HPO
1030	CDKN2B	C0151908	Dry skin	0.2	0	0	HPO
1030	CDKN2B	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1030	CDKN2B	C0206667	Adrenal Cortical Adenoma	0.2	0	0	HPO
1030	CDKN2B	C0206731	Angiofibroma	0.2	0	0	HPO
1030	CDKN2B	C0235986	Growth hormone excess	0.2	0	0	HPO
1030	CDKN2B	C0259817	Xerosis	0.2	0	0	HPO
1030	CDKN2B	C0262527	intermittent abdominal pain	0.2	0	0	HPO
1030	CDKN2B	C0262587	Parathyroid Adenoma	0.200274726784213	0	0	HPO
1030	CDKN2B	C0271844	Parathyroid hyperplasia	0.2	0	0	HPO
1030	CDKN2B	C0338078	Non-Functioning Pituitary Gland Neoplasm	0.2	0	0	HPO
1030	CDKN2B	C0857973	Increased serum parathyroid hormone	0.2	0	0	HPO
1030	CDKN2B	C1403035	Subcutaneous lipomas	0.2	0	0	HPO
1030	CDKN2B	C1512419	Hereditary Melanoma	0.201373633921065	0	0	ORPHANET
1030	CDKN2B	C1835047	MELANOMA, CUTANEOUS MALIGNANT, 1	0.2	0	0	ORPHANET
1030	CDKN2B	C1864903	Hyperinsulinaemic hypoglycaemia	0.2	0	0	HPO
1030	CDKN2B	C1864954	Hyperinsulinemia, fasting	0.2	0	0	HPO
1030	CDKN2B	C1956346	Coronary Artery Disease	0.214782410458571	1	0	CTD_human
1030	CDKN2B	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1030	CDKN2B	C3463824	MYELODYSPLASTIC SYNDROME	0.213381744514495	1	0	CTD_human
1030	CDKN2B	C3808022	Abdominal pain, episodic	0.2	0	0	HPO
1030	CDKN2B	C4018860	Pituitary growth hormone cell adenoma	0.2	0	0	HPO
1030	CDKN2B	C4021976	Abnormality of the lymphatic system	0.2	0	0	HPO
10308	ZNF267	C0037274	Dermatologic disorders	0.2	1	0	CTD_human
10308	ZNF267	C0311375	Arsenic Poisoning	0.2	1	0	CTD_human
10309	CCNO	C0004144	Atelectasis	0.2	0	0	HPO
10309	CCNO	C0006267	Bronchiectasis	0.2	0	0	HPO
10309	CCNO	C0008780	Ciliary Motility Disorders	0.4	0	0	HPO;ORPHANET
10309	CCNO	C0022521	Kartagener Syndrome	0.200274726784213	0	0	ORPHANET
10309	CCNO	C0600260	Lung Diseases, Obstructive	0.2	1	0	CTD_human
10309	CCNO	C1864985	Progressive disorder	0.2	0	0	HPO
10309	CCNO	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
10309	CCNO	C4014534	CILIARY DYSKINESIA, PRIMARY, 29	0.2	2	2	UNIPROT
10309	CCNO	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10312	TCIRG1	C0002871	Anemia	0.2	0	0	HPO
10312	TCIRG1	C0005904	Body Temperature Changes	0.2	0	0	HPO
10312	TCIRG1	C0008711	Chronic rhinitis	0.2	0	0	HPO
10312	TCIRG1	C0010278	Craniosynostosis	0.2	0	0	HPO
10312	TCIRG1	C0011053	Deafness	0.2	0	0	HPO
10312	TCIRG1	C0011334	Dental caries	0.2	0	0	HPO
10312	TCIRG1	C0014544	Epilepsy	0.2	0	0	HPO
10312	TCIRG1	C0015469	Facial paralysis	0.2	0	0	HPO
10312	TCIRG1	C0016663	Pathological fracture	0.2	0	0	HPO
10312	TCIRG1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10312	TCIRG1	C0019209	Hepatomegaly	0.2	0	0	HPO
10312	TCIRG1	C0020255	Hydrocephalus	0.2	0	0	HPO
10312	TCIRG1	C0028738	Nystagmus	0.2	0	0	HPO
10312	TCIRG1	C0029124	Optic Atrophy	0.200274726784213	0	0	HPO
10312	TCIRG1	C0029443	Osteomyelitis	0.2	0	0	HPO
10312	TCIRG1	C0029454	Osteopetrosis	0.213367389137178	0	0	HPO
10312	TCIRG1	C0029882	Otitis Media	0.2	0	0	HPO
10312	TCIRG1	C0030232	Pallor	0.2	0	0	HPO
10312	TCIRG1	C0030312	Pancytopenia	0.2	0	0	HPO
10312	TCIRG1	C0036572	Seizures	0.2	0	0	HPO
10312	TCIRG1	C0038002	Splenomegaly	0.2	0	0	HPO
10312	TCIRG1	C0039621	Tetany	0.2	0	0	HPO
10312	TCIRG1	C0040822	Tremor	0.2	0	0	HPO
10312	TCIRG1	C0042798	Low Vision	0.2	0	0	HPO
10312	TCIRG1	C0151686	Growth retardation	0.2	0	0	HPO
10312	TCIRG1	C0151825	Bone pain	0.2	0	0	HPO
10312	TCIRG1	C0162119	Hemoglobin low	0.2	0	0	HPO
10312	TCIRG1	C0221354	Frontal bossing	0.2	0	0	HPO
10312	TCIRG1	C0231246	Failure to gain weight	0.2	0	0	HPO
10312	TCIRG1	C0235942	Skull malformation	0.2	0	0	HPO
10312	TCIRG1	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
10312	TCIRG1	C0239174	Late tooth eruption	0.2	0	0	HPO
10312	TCIRG1	C0241054	Skin bulla	0.2	0	0	HPO
10312	TCIRG1	C0242567	Opsoclonus	0.2	0	0	HPO
10312	TCIRG1	C0266052	Precocious exfoliation of primary tooth	0.2	0	0	HPO
10312	TCIRG1	C0271215	Blindness, Legal	0.2	0	0	HPO
10312	TCIRG1	C0271344	Compression of optic nerve	0.2	0	0	HPO
10312	TCIRG1	C0339789	Congenital deafness	0.2	0	0	HPO
10312	TCIRG1	C0376175	Bell Palsy	0.2	0	0	HPO
10312	TCIRG1	C0426790	Narrow thorax	0.2	0	0	HPO
10312	TCIRG1	C0427055	Facial Paresis	0.2	0	0	HPO
10312	TCIRG1	C0456070	Growth delay	0.2	0	0	HPO
10312	TCIRG1	C0456909	Blind Vision	0.2	0	0	HPO
10312	TCIRG1	C0497156	Lymphadenopathy	0.2	0	0	HPO
10312	TCIRG1	C0522214	Abnormal visual evoked potential	0.2	0	0	HPO
10312	TCIRG1	C0750857	Alkaline phosphatase serum increased	0.2	0	0	HPO
10312	TCIRG1	C0751401	Ophthalmoparesis	0.2	0	0	HPO
10312	TCIRG1	C0878787	Growth failure	0.2	0	0	HPO
10312	TCIRG1	C1318518	Infantile malignant osteopetrosis	0.202197814273705	0	0	ORPHANET
10312	TCIRG1	C1384666	hearing impairment	0.2	0	0	HPO
10312	TCIRG1	C1832160	Poor temperature regulation	0.2	0	0	HPO
10312	TCIRG1	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
10312	TCIRG1	C1837385	Poor growth	0.2	0	0	HPO
10312	TCIRG1	C1842083	Abnormality of the ribs	0.2	0	0	HPO
10312	TCIRG1	C1850127	Osteopetrosis, Autosomal Recessive 1	0.48	2	6	CTD_human;UNIPROT
10312	TCIRG1	C1850134	Sandwich appearance of vertebral bodies	0.2	0	0	HPO
10312	TCIRG1	C1850135	Splayed metaphyses	0.2	0	0	HPO
10312	TCIRG1	C1855340	Bowing of the long bones	0.2	0	0	HPO
10312	TCIRG1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
10312	TCIRG1	C1859966	Neutropenia, Severe Congenital, Autosomal Dominant 1	0.2	0	0	ORPHANET
10312	TCIRG1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
10312	TCIRG1	C2220104	Blister of skin	0.2	0	0	HPO
10312	TCIRG1	C2242472	Infection of bone	0.2	0	0	HPO
10312	TCIRG1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10312	TCIRG1	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
10312	TCIRG1	C3552463	Very poor growth	0.2	0	0	HPO
10312	TCIRG1	C3665347	Visual Impairment	0.2	0	0	HPO
10312	TCIRG1	C3805574	Increased fracture rate	0.2	0	0	HPO
10312	TCIRG1	C3806283	Frequent fractures	0.2	0	0	HPO
10312	TCIRG1	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
10312	TCIRG1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10312	TCIRG1	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
10312	TCIRG1	C4023722	Abnormality of hair texture	0.2	0	0	HPO
10312	TCIRG1	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
10312	TCIRG1	C4072880	Abnormality of hair consistency	0.2	0	0	HPO
10312	TCIRG1	C4072881	Abnormality of hair curl pattern	0.2	0	0	HPO
10312	TCIRG1	C4073290	Abnormality of hair volume	0.2	0	0	HPO
10312	TCIRG1	C4083076	Increased head circumference	0.2	0	0	HPO
10312	TCIRG1	C4255213	Increased size of skull	0.2	0	0	HPO
10312	TCIRG1	C4280623	Rotting teeth	0.2	0	0	HPO
10312	TCIRG1	C4280663	Increased size of cranium	0.2	0	0	HPO
10312	TCIRG1	C4280664	Big calvaria	0.2	0	0	HPO
10318	TNIP1	C0024141	Lupus Erythematosus, Systemic	0.208110778457133	2	4	CTD_human
10318	TNIP1	C0033860	Psoriasis	0.209260842751298	2	1	CTD_human
10318	TNIP1	C0036421	Systemic Scleroderma	0.200824180352639	1	2	CTD_human
10318	TNIP1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10318	TNIP1	C1527336	Sjogren's Syndrome	0.2	1	0	CTD_human
10319	LAMC3	C0006111	Brain Diseases	0.2	1	0	CTD_human
10319	LAMC3	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
10319	LAMC3	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
10319	LAMC3	C1510586	Autism Spectrum Disorders	0.2	1	0	CTD_human
10319	LAMC3	C3279875	CORTICAL MALFORMATIONS, OCCIPITAL	0.4	1	2	ORPHANET;UNIPROT
10319	LAMC3	C3665386	Abnormal vision	0.2	0	0	HPO
10319	LAMC3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1032	CDKN2D	C0016689	Freckles	0.2	0	0	HPO
1032	CDKN2D	C0024228	Lymphatic Diseases	0.2	0	0	HPO
1032	CDKN2D	C0025202	melanoma	0.200274726784213	0	0	HPO
1032	CDKN2D	C0027960	Nevus	0.2	0	0	HPO
1032	CDKN2D	C0027962	Melanocytic nevus	0.2	0	0	HPO
1032	CDKN2D	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1032	CDKN2D	C0151908	Dry skin	0.2	0	0	HPO
1032	CDKN2D	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1032	CDKN2D	C0259817	Xerosis	0.2	0	0	HPO
1032	CDKN2D	C1512419	Hereditary Melanoma	0.2	0	0	ORPHANET
1032	CDKN2D	C1835047	MELANOMA, CUTANEOUS MALIGNANT, 1	0.2	0	0	ORPHANET
1032	CDKN2D	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1032	CDKN2D	C4021976	Abnormality of the lymphatic system	0.2	0	0	HPO
10320	IKZF1	C0000887	Acantholysis	0.2	0	0	HPO
10320	IKZF1	C0009324	Ulcerative Colitis	0.2	1	0	CTD_human
10320	IKZF1	C0011168	Deglutition Disorders	0.2	0	0	HPO
10320	IKZF1	C0011991	Diarrhea	0.2	0	0	HPO
10320	IKZF1	C0013132	Drooling	0.2	0	0	HPO
10320	IKZF1	C0015672	Fatigue	0.2	0	0	HPO
10320	IKZF1	C0015967	Fever	0.2	0	0	HPO
10320	IKZF1	C0016382	Flushing	0.2	0	0	HPO
10320	IKZF1	C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	0.200274726784213	1	0	CTD_human
10320	IKZF1	C0024141	Lupus Erythematosus, Systemic	0.20433011601278	1	0	CTD_human
10320	IKZF1	C0024299	Lymphoma	0.206015278498054	1	0	CTD_human
10320	IKZF1	C0027498	Nausea and vomiting	0.2	0	0	HPO
10320	IKZF1	C0037036	Sialorrhea	0.2	0	0	HPO
10320	IKZF1	C0038325	Stevens-Johnson Syndrome	0.2	0	0	ORPHANET
10320	IKZF1	C0041834	Erythema	0.2	0	0	HPO
10320	IKZF1	C0241054	Skin bulla	0.2	0	0	HPO
10320	IKZF1	C0241128	Nikolsky sign	0.2	0	0	HPO
10320	IKZF1	C0332573	Macule	0.2	0	0	HPO
10320	IKZF1	C0427515	Neutrophil abnormality	0.2	0	0	HPO
10320	IKZF1	C1262477	Weight decreased	0.2	0	0	HPO
10320	IKZF1	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.222064422942732	1	3	CTD_human
10320	IKZF1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
10320	IKZF1	C2220104	Blister of skin	0.2	0	0	HPO
10320	IKZF1	C4225173	IMMUNODEFICIENCY, COMMON VARIABLE, 13	0.4	1	4	ORPHANET;UNIPROT
10321	CRISP3	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
10321	CRISP3	C0032987	Ectopic Pregnancy	0.2	1	0	CTD_human
10327	AKR1A1	C0001969	Alcoholic Intoxication	0.200549453568426	5	0	PSYGENET
10327	AKR1A1	C0001973	Alcoholic Intoxication, Chronic	0.21593415348436	5	0	PSYGENET
10327	AKR1A1	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10327	AKR1A1	C0085762	Alcohol abuse	0.201098907136852	5	0	PSYGENET
10327	AKR1A1	C0520459	Necrotizing Enterocolitis	0.2	1	0	CTD_human
1033	CDKN3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1033	CDKN3	C2239176	Liver carcinoma	0.20357144819477	1	2	UNIPROT
10330	CNPY2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10333	TLR6	C0033578	Prostatic Neoplasms	0.205465824929628	1	0	CTD_human
10342	TFG	C0015644	Muscular fasciculation	0.2	0	0	HPO
10342	TFG	C0017639	Gliosis	0.2	0	0	HPO
10342	TFG	C0020473	Hyperlipidemia	0.2	0	0	HPO
10342	TFG	C0029124	Optic Atrophy	0.2	0	0	HPO
10342	TFG	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
10342	TFG	C0034372	Quadriplegia	0.2	0	0	HPO
10342	TFG	C0034935	Babinski Reflex	0.2	0	0	HPO
10342	TFG	C0037772	Spastic Paraplegia	0.2	0	0	HPO
10342	TFG	C0151313	Sensory neuropathy	0.2	0	0	HPO
10342	TFG	C0151889	Hyperreflexia	0.2	0	0	HPO
10342	TFG	C0221629	Proximal muscle weakness	0.2	0	0	HPO
10342	TFG	C0235025	Peripheral motor neuropathy	0.2	0	0	HPO
10342	TFG	C0238463	Papillary thyroid carcinoma	0.200549453568426	0	0	ORPHANET
10342	TFG	C0239067	Difficulty walking up stairs	0.2	0	0	HPO
10342	TFG	C0241237	Difficulty standing	0.2	0	0	HPO
10342	TFG	C0271683	Polyneuropathy, Motor	0.2	0	0	HPO
10342	TFG	C0442874	Neuropathy	0.2	0	0	HPO
10342	TFG	C0575081	Gait abnormality	0.2	0	0	HPO
10342	TFG	C1112256	Peripheral sensorimotor neuropathy	0.2	0	0	HPO
10342	TFG	C1275278	Extraskeletal Myxoid Chondrosarcoma	0.400274726784213	0	0	CTD_human;ORPHANET
10342	TFG	C1836451	Muscle atrophy, lower limb, distal	0.2	0	0	HPO
10342	TFG	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
10342	TFG	C1843505	Degeneration of anterior horn cells	0.2	0	0	HPO
10342	TFG	C1847584	Distal sensory impairment	0.2	0	0	HPO
10342	TFG	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
10342	TFG	C1850794	Muscle atrophy, proximal	0.2	0	0	HPO
10342	TFG	C1853562	Adult onset	0.2	0	0	HPO
10342	TFG	C1854494	Slow progression	0.2	0	0	HPO
10342	TFG	C1857704	Abnormal myelination	0.2	0	0	HPO
10342	TFG	C1858285	Decreased number of large and small myelinated fibers	0.2	0	0	HPO
10342	TFG	C1858338	Neuropathy, hereditary motor and sensory, Okinawa type	0.4	1	2	ORPHANET;UNIPROT
10342	TFG	C1866863	Lower limb atrophy	0.2	0	0	HPO
10342	TFG	C3665386	Abnormal vision	0.2	0	0	HPO
10342	TFG	C3714897	SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE	0.4	1	1	ORPHANET;UNIPROT
10342	TFG	C3806644	Lower limb muscle hypotrophy	0.2	0	0	HPO
10342	TFG	C4020690	Abnormality of peripheral nerve conduction	0.2	0	0	HPO
10342	TFG	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10342	TFG	C4021642	Abnormality of the Achilles tendon	0.2	0	0	HPO
10345	TRDN	C0011071	Sudden death	0.2	0	0	HPO
10345	TRDN	C0012833	Dizziness	0.2	0	0	HPO
10345	TRDN	C0014544	Epilepsy	0.2	0	0	HPO
10345	TRDN	C0036572	Seizures	0.200274726784213	0	0	HPO
10345	TRDN	C0039070	Syncope	0.2	0	0	HPO
10345	TRDN	C0042514	Tachycardia, Ventricular	0.2	0	0	HPO
10345	TRDN	C0042571	Vertigo	0.2	0	0	HPO
10345	TRDN	C0221629	Proximal muscle weakness	0.2	0	0	HPO
10345	TRDN	C1631597	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	0.200549453568426	0	0	ORPHANET
10345	TRDN	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
10345	TRDN	C3809536	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS	0.2	1	3	UNIPROT
10345	TRDN	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10346	TRIM22	C0021400	Influenza	0.2	1	0	CTD_human
10347	ABCA7	C0002395	Alzheimer's Disease	0.20796707674218	2	4	CTD_human
10349	ABCA10	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10350	ABCA9	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10351	ABCA8	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10363	HMG20A	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.201373633921065	1	2	CTD_human
10365	KLF2	C0024115	Lung diseases	0.2	1	0	CTD_human
10367	MICU1	C0004782	Basal Ganglia Diseases	0.2	1	0	CTD_human
10367	MICU1	C0023186	Learning Disorders	0.2	1	0	CTD_human
10367	MICU1	C0026650	Movement Disorders	0.200274726784213	1	0	CTD_human
10367	MICU1	C0026848	Myopathy	0.200274726784213	1	0	CTD_human
10367	MICU1	C3810285	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS	0.2	0	0	ORPHANET
10367	MICU1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10369	CACNG2	C0036341	Schizophrenia	0.20350593566014	3	0	PSYGENET
10369	CACNG2	C3280284	MENTAL RETARDATION, AUTOSOMAL DOMINANT 10	0.2	1	0	UNIPROT
10370	CITED2	C0010417	Cryptorchidism	0.2	0	0	HPO
10370	CITED2	C0015300	Exophthalmos	0.2	0	0	HPO
10370	CITED2	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10370	CITED2	C0018816	Heart Septal Defects	0.200274726784213	1	0	CTD_human
10370	CITED2	C0018817	Atrial Septal Defects	0.2	0	0	HPO
10370	CITED2	C0018818	Ventricular Septal Defects	0.200274726784213	0	0	ORPHANET
10370	CITED2	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10370	CITED2	C0026846	Muscular Atrophy	0.2	1	0	CTD_human
10370	CITED2	C0039685	Tetralogy of Fallot	0.48	0	0	HPO;ORPHANET
10370	CITED2	C0221357	Brachydactyly	0.2	0	0	HPO
10370	CITED2	C0221358	Long narrow head	0.2	0	0	HPO
10370	CITED2	C0266610	Preauricular dimple	0.2	0	0	HPO
10370	CITED2	C0266625	Preauricular sinus	0.2	0	0	HPO
10370	CITED2	C0266642	Situs ambiguus	0.2	0	0	ORPHANET
10370	CITED2	C0344724	Ostium secundum atrial septal defect	0.2	0	0	ORPHANET
10370	CITED2	C0344730	Atrial Septal Defect Sinus Venosus	0.2	0	0	ORPHANET
10370	CITED2	C0344925	Perimembranous ventricular septal defect	0.2	0	0	HPO
10370	CITED2	C0546969	Preauricular Fistulae, Congenital	0.2	0	0	HPO
10370	CITED2	C0578038	Thin lips	0.2	0	0	HPO
10370	CITED2	C1386048	Intrauterine retardation	0.2	0	0	HPO
10370	CITED2	C1837760	Prominent eyes	0.2	0	0	HPO
10370	CITED2	C1848490	Protruding eyes	0.2	0	0	HPO
10370	CITED2	C1849089	Broad forehead	0.2	0	0	HPO
10370	CITED2	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10370	CITED2	C1861869	Underdeveloped supraorbital ridges	0.2	0	0	HPO
10370	CITED2	C1862425	Prominent globes	0.2	0	0	HPO
10370	CITED2	C4020777	Underdeveloped brows	0.2	0	0	HPO
10370	CITED2	C4025252	Abnormal nasal morphology	0.2	0	0	HPO
10370	CITED2	C4280538	Curvature of little finger	0.2	0	0	HPO
10370	CITED2	C4280653	Turridolichocephaly	0.2	0	0	HPO
10370	CITED2	C4280654	Narrow skull shape	0.2	0	0	HPO
10370	CITED2	C4280655	Narrow head shape	0.2	0	0	HPO
10370	CITED2	C4280656	Narrow cranium shape	0.2	0	0	HPO
10371	SEMA3A	C0003126	Anosmia	0.2	0	0	HPO
10371	SEMA3A	C0010417	Cryptorchidism	0.2	0	0	HPO
10371	SEMA3A	C0034012	Delayed Puberty	0.2	0	0	HPO
10371	SEMA3A	C0036341	Schizophrenia	0.20328236603324	3	1	PSYGENET
10371	SEMA3A	C0162809	Kallmann Syndrome	0.201373633921065	0	0	ORPHANET
10371	SEMA3A	C0241355	Small testicle	0.2	0	0	HPO
10371	SEMA3A	C0266013	Congenital hypoplasia of breast	0.2	0	0	HPO
10371	SEMA3A	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10371	SEMA3A	C0271623	Hypogonadotropic hypogonadism	0.2	0	0	HPO
10371	SEMA3A	C0520927	Decreased fertility	0.2	0	0	HPO
10371	SEMA3A	C2364082	Sense of smell impaired	0.200274726784213	0	0	HPO
10371	SEMA3A	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
10371	SEMA3A	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
10371	SEMA3A	C3554021	HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	0.2	2	9	UNIPROT
10371	SEMA3A	C4021776	Abnormality of the voice	0.2	0	0	HPO
10371	SEMA3A	C4022003	Erectile abnormalities	0.2	0	0	HPO
10371	SEMA3A	C4025644	Hypothalamic gonadotropin-releasing hormone deficiency	0.2	0	0	HPO
10371	SEMA3A	C4025821	Anterior hypopituitarism	0.2	0	0	HPO
10376	TUBA1B	C0029456	Osteoporosis	0.2	1	0	CTD_human
10381	TUBB3	C0002418	Amblyopia	0.2	0	0	HPO
10381	TUBB3	C0005745	Blepharoptosis	0.200549453568426	0	0	HPO
10381	TUBB3	C0015310	Exotropia	0.2	0	0	HPO
10381	TUBB3	C0026351	Moderate mental retardation (I.Q. 35-49)	0.2	0	0	HPO
10381	TUBB3	C0026838	Muscle Spasticity	0.2	0	0	HPO
10381	TUBB3	C0028738	Nystagmus	0.2	0	0	HPO
10381	TUBB3	C0038379	Strabismus	0.200274726784213	0	0	HPO
10381	TUBB3	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
10381	TUBB3	C0266464	Polymicrogyria	0.2	0	0	HPO
10381	TUBB3	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
10381	TUBB3	C0424688	Small head	0.2	0	0	HPO
10381	TUBB3	C0431380	Cortical Dysplasia	0.200274726784213	0	0	HPO
10381	TUBB3	C0557874	Global developmental delay	0.200549453568426	0	0	HPO
10381	TUBB3	C0919267	ovarian neoplasm	0.208198737394441	1	0	CTD_human
10381	TUBB3	C1302995	Congenital Fibrosis of the Extraocular Muscles	0.203021994626344	0	0	HPO
10381	TUBB3	C1458155	Mammary Neoplasms	0.200274726784213	1	0	CTD_human
10381	TUBB3	C1837514	Phenotypic variability	0.2	0	0	HPO
10381	TUBB3	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10381	TUBB3	C1842688	Hypoplasia of the brainstem	0.2	0	0	HPO
10381	TUBB3	C1846911	Compensatory chin elevation	0.2	0	0	HPO
10381	TUBB3	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10381	TUBB3	C1851102	Fibrosis Of Extraocular Muscles, Congenital, 1	0.2	0	0	ORPHANET
10381	TUBB3	C1851107	Levator palpebrae superioris atrophy	0.2	0	0	HPO
10381	TUBB3	C1851108	Rectus superior atrophy	0.2	0	0	HPO
10381	TUBB3	C1853743	Axial hypotonia	0.2	0	0	HPO
10381	TUBB3	C1864897	Cognitive delay	0.2	0	0	HPO
10381	TUBB3	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10381	TUBB3	C2748801	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	0.48	1	9	CTD_human;UNIPROT
10381	TUBB3	C2752013	Prenatal onset	0.2	0	0	HPO
10381	TUBB3	C3808397	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	0.4	1	6	ORPHANET;UNIPROT
10381	TUBB3	C4020875	Mental and motor retardation	0.2	0	0	HPO
10381	TUBB3	C4024789	Nonprogressive restrictive external ophthalmoplegia	0.2	0	0	HPO
10382	TUBB4A	C1851943	DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)	0.4	1	2	ORPHANET;UNIPROT
10382	TUBB4A	C2676244	Leukodystrophy, Hypomyelinating, 6	0.4	1	27	ORPHANET;UNIPROT
10389	SCML2	C0025149	Medulloblastoma	0.2	1	0	CTD_human
10392	NOD1	C0027765	nervous system disorder	0.2	1	0	CTD_human
10395	DLC1	C0007134	Renal Cell Carcinoma	0.200549453568426	0	0	HPO
10395	DLC1	C0038356	Stomach Neoplasms	0.402732912464814	1	0	CTD_human;HPO
10395	DLC1	C0279680	Transitional cell carcinoma of bladder	0.2	0	0	HPO
10395	DLC1	C0280631	Leiomyosarcoma of uterus	0.2	0	0	HPO
10395	DLC1	C0919267	ovarian neoplasm	0.200274726784213	1	0	CTD_human
10395	DLC1	C4020813	Increased gastric cancer	0.2	0	0	HPO
10395	DLC1	C4024989	Hereditary nonpolyposis colorectal carcinoma	0.2	0	0	HPO
10397	NDRG1	C0004114	Astrocytoma	0.2	1	0	CTD_human
10397	NDRG1	C0007131	Non-Small Cell Lung Carcinoma	0.200274726784213	1	0	CTD_human
10397	NDRG1	C0007134	Renal Cell Carcinoma	0.200274726784213	1	0	CTD_human
10397	NDRG1	C0011053	Deafness	0.2	0	0	HPO
10397	NDRG1	C0017636	Glioblastoma	0.200274726784213	1	0	CTD_human
10397	NDRG1	C0018564	Hand deformities	0.2	0	0	HPO
10397	NDRG1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10397	NDRG1	C0022665	Kidney Neoplasm	0.202732912464814	1	0	CTD_human
10397	NDRG1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10397	NDRG1	C0023903	Liver neoplasms	0.2	1	0	CTD_human
10397	NDRG1	C0025202	melanoma	0.200824180352639	1	0	CTD_human
10397	NDRG1	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
10397	NDRG1	C0027627	Neoplasm Metastasis	0.216194524891256	2	0	CTD_human
10397	NDRG1	C0029295	Oropharyngeal Neoplasms	0.2	1	0	CTD_human
10397	NDRG1	C0033578	Prostatic Neoplasms	0.203007639249027	1	0	CTD_human
10397	NDRG1	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
10397	NDRG1	C0206658	Smooth Muscle Tumor	0.2	1	0	CTD_human
10397	NDRG1	C0206734	Hemangioblastoma	0.2	1	0	CTD_human
10397	NDRG1	C0234146	Absent reflex	0.2	0	0	HPO
10397	NDRG1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10397	NDRG1	C0278124	Absent tendon reflex	0.2	0	0	HPO
10397	NDRG1	C0339789	Congenital deafness	0.2	0	0	HPO
10397	NDRG1	C0427065	Distal muscle weakness	0.2	0	0	HPO
10397	NDRG1	C0522214	Abnormal visual evoked potential	0.2	0	0	HPO
10397	NDRG1	C0522216	Abnormal auditory evoked potential	0.2	0	0	HPO
10397	NDRG1	C0575081	Gait abnormality	0.2	0	0	HPO
10397	NDRG1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
10397	NDRG1	C0887833	Carcinoma, Pancreatic Ductal	0.2	1	0	CTD_human
10397	NDRG1	C1168401	Squamous cell carcinoma of the head and neck	0.200274726784213	1	0	CTD_human
10397	NDRG1	C1384666	hearing impairment	0.2	0	0	HPO
10397	NDRG1	C1458155	Mammary Neoplasms	0.20328236603324	1	0	CTD_human
10397	NDRG1	C1832334	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	0.481373633921066	0	0	CTD_human;ORPHANET
10397	NDRG1	C1832338	Axonal loss	0.2	0	0	HPO
10397	NDRG1	C1832339	Intraaxonal accumulation of curvilinear profiles	0.2	0	0	HPO
10397	NDRG1	C1832342	Talipes cavus equinovarus	0.2	0	0	HPO
10397	NDRG1	C1843077	Segmental demyelination/remyelination	0.2	0	0	HPO
10397	NDRG1	C1847584	Distal sensory impairment	0.2	0	0	HPO
10397	NDRG1	C1847906	Onion bulb formation	0.2	0	0	HPO
10397	NDRG1	C1848736	Distal amyotrophy	0.2	0	0	HPO
10397	NDRG1	C1857640	Decreased nerve conduction velocity	0.2	0	0	HPO
10397	NDRG1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
10397	NDRG1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10397	NDRG1	C4024964	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	0.2	0	0	HPO
10398	MYL9	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10398	MYL9	C0042373	Vascular Diseases	0.2	1	0	CTD_human
10398	MYL9	C1527311	Brain Edema	0.2	1	0	CTD_human
10399	RACK1	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
10399	RACK1	C0005586	Bipolar Disorder	0.2	1	0	PSYGENET
10399	RACK1	C0007137	Squamous cell carcinoma	0.200824180352639	1	0	CTD_human
10399	RACK1	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
104	ADARB1	C0005586	Bipolar Disorder	0.200824180352639	3	0	PSYGENET
104	ADARB1	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
104	ADARB1	C0033975	Psychotic Disorders	0.2	1	0	PSYGENET
104	ADARB1	C0036341	Schizophrenia	0.200549453568426	2	0	PSYGENET
1040	CDS1	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1040	CDS1	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1040	CDS1	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
10400	PEMT	C0036341	Schizophrenia	0.205689394556528	2	0	PSYGENET
10401	PIAS3	C0007873	Uterine Cervical Neoplasm	0.2	1	0	CTD_human
10404	CPQ	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
10404	CPQ	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10406	WFDC2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10409	BASP1	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
10409	BASP1	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
10410	IFITM3	C0021400	Influenza	0.204120901763196	1	1	CTD_human
10411	RAPGEF3	C0024117	Chronic Obstructive Airway Disease	0.200274726784213	1	0	CTD_human
10411	RAPGEF3	C0035585	Rickettsia Infections	0.2	1	0	CTD_human
10411	RAPGEF3	C0162700	Tick-Borne Diseases	0.2	1	0	CTD_human
10411	RAPGEF3	C2609414	Acute kidney injury	0.2	1	0	CTD_human
10412	NSA2	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
10413	YAP1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10413	YAP1	C0018965	Hematuria	0.2	0	0	HPO
10413	YAP1	C0025362	Mental Retardation	0.2	0	0	HPO
10413	YAP1	C0026010	Microphthalmos	0.2	0	0	HPO
10413	YAP1	C0027819	Neuroblastoma	0.2	1	0	CTD_human
10413	YAP1	C0206732	Epithelioid hemangioendothelioma	0.201373633921065	0	0	ORPHANET
10413	YAP1	C0240063	Coloboma of iris	0.2	0	0	HPO
10413	YAP1	C0240896	Fundus coloboma	0.2	0	0	HPO
10413	YAP1	C0423903	Low intelligence	0.2	0	0	HPO
10413	YAP1	C0795902	Coloboma, cleft lip-palate and mental retardation syndrome	0.2	0	0	ORPHANET
10413	YAP1	C0917816	Mental deficiency	0.2	0	0	HPO
10413	YAP1	C0919267	ovarian neoplasm	0.2	1	0	CTD_human
10413	YAP1	C1168401	Squamous cell carcinoma of the head and neck	0.200274726784213	1	0	CTD_human
10413	YAP1	C1398522	Cleft palate and bilateral cleft lip	0.2	0	0	HPO
10413	YAP1	C1843367	Poor school performance	0.2	0	0	HPO
10413	YAP1	C3714756	Intellectual Disability	0.2	0	0	HPO
10413	YAP1	C4020876	Dull intelligence	0.2	0	0	HPO
10413	YAP1	C4280625	Decreased size of eyeball	0.2	0	0	HPO
10413	YAP1	C4280808	Abnormally small eyeball	0.2	0	0	HPO
10417	SPON2	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10420	TESK2	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
10436	EMG1	C0010417	Cryptorchidism	0.2	0	0	HPO
10436	EMG1	C0019693	HIV Infections	0.2	1	0	CTD_human
10436	EMG1	C0022408	Arthropathy	0.2	0	0	HPO
10436	EMG1	C0024032	Low Birth Weights	0.2	0	0	HPO
10436	EMG1	C0025990	Micrognathism	0.2	0	0	HPO
10436	EMG1	C0162298	Joint stiffness	0.2	0	0	HPO
10436	EMG1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
10436	EMG1	C0240083	joint abnormality	0.2	0	0	HPO
10436	EMG1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10436	EMG1	C0240912	Vertical Talus	0.2	0	0	HPO
10436	EMG1	C0349588	Short stature	0.2	0	0	HPO
10436	EMG1	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
10436	EMG1	C0424688	Small head	0.2	0	0	HPO
10436	EMG1	C0426415	Large nose	0.2	0	0	HPO
10436	EMG1	C1400105	Hypertrophy of nose	0.2	0	0	HPO
10436	EMG1	C1837397	Global developmental delay, severe	0.2	0	0	HPO
10436	EMG1	C1844947	Death in early childhood	0.2	0	0	HPO
10436	EMG1	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10436	EMG1	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
10436	EMG1	C1855843	Severe intrauterine growth retardation	0.2	0	0	HPO
10436	EMG1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10436	EMG1	C1857641	Severe postnatal growth retardation	0.2	0	0	HPO
10436	EMG1	C1857679	Sloping forehead	0.2	0	0	HPO
10436	EMG1	C1858430	Death in infancy	0.2	0	0	HPO
10436	EMG1	C1859405	Bowen-Conradi syndrome	0.681648360705279	1	1	CTD_human;ORPHANET;UNIPROT
10436	EMG1	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10436	EMG1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10436	EMG1	C4280538	Curvature of little finger	0.2	0	0	HPO
10436	EMG1	C4280629	Hyperplasia of nose	0.2	0	0	HPO
10438	C1D	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
10439	OLFM1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10443	N4BP2L2	C0037274	Dermatologic disorders	0.2	1	0	CTD_human
10443	N4BP2L2	C0311375	Arsenic Poisoning	0.2	1	0	CTD_human
10449	ACAA2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10449	ACAA2	C0035222	Respiratory Distress Syndrome, Adult	0.2	1	0	CTD_human
10451	VAV3	C0017661	IGA Glomerulonephritis	0.2	1	1	CTD_human
10451	VAV3	C0020538	Hypertensive disease	0.200274726784213	1	0	CTD_human
10451	VAV3	C0020578	Hyperventilation	0.2	1	0	CTD_human
10451	VAV3	C0033578	Prostatic Neoplasms	0.205465824929628	1	0	CTD_human
10451	VAV3	C0039231	Tachycardia	0.2	1	0	CTD_human
10452	TOMM40	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
10452	TOMM40	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
10452	TOMM40	C0349204	Nonorganic psychosis	0.200274726784213	1	0	PSYGENET
10452	TOMM40	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
10454	TAB1	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
10456	HAX1	C0023418	leukemia	0.2	0	0	HPO
10456	HAX1	C0376545	Hematologic Neoplasms	0.2	0	0	HPO
10456	HAX1	C0853697	Neutrophil count decreased	0.2	0	0	HPO
10456	HAX1	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
10456	HAX1	C1848924	Infantile onset	0.2	0	0	HPO
10456	HAX1	C1851971	Hypoplastic myelodysplasia	0.2	0	0	HPO
10456	HAX1	C1853118	Severe congenital neutropenia	0.607417623173754	2	5	CTD_human;ORPHANET;UNIPROT
10456	HAX1	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
10456	HAX1	C3463824	MYELODYSPLASTIC SYNDROME	0.202407028523288	0	0	HPO
10456	HAX1	C4020846	Prone to bacterial infection	0.2	0	0	HPO
10456	HAX1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10457	GPNMB	C0009404	Colorectal Neoplasms	0.2	2	0	CTD_human
10457	GPNMB	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10457	GPNMB	C0162557	Liver Failure, Acute	0.2	1	0	CTD_human
10457	GPNMB	C1458155	Mammary Neoplasms	0.20328236603324	1	0	CTD_human
10457	GPNMB	C2609414	Acute kidney injury	0.2	1	0	CTD_human
10459	MAD2L2	C0015625	Fanconi Anemia	0.2	0	0	ORPHANET
10459	MAD2L2	C0023530	Leukopenia	0.2	0	0	HPO
10459	MAD2L2	C0025362	Mental Retardation	0.2	0	0	HPO
10459	MAD2L2	C0037932	Curvature of spine	0.2	0	0	HPO
10459	MAD2L2	C0040034	Thrombocytopenia	0.2	0	0	HPO
10459	MAD2L2	C0272027	Pyridoxine-responsive sideroblastic anemia	0.2	0	0	HPO
10459	MAD2L2	C0349588	Short stature	0.2	0	0	HPO
10459	MAD2L2	C0376628	Chromosome Breakage	0.2	0	0	HPO
10459	MAD2L2	C0392386	Decreased platelet count	0.2	0	0	HPO
10459	MAD2L2	C0423112	Short palpebral fissure	0.2	0	0	HPO
10459	MAD2L2	C0423903	Low intelligence	0.2	0	0	HPO
10459	MAD2L2	C0424688	Small head	0.2	0	0	HPO
10459	MAD2L2	C0557874	Global developmental delay	0.2	0	0	HPO
10459	MAD2L2	C0700208	Acquired scoliosis	0.2	0	0	HPO
10459	MAD2L2	C0917816	Mental deficiency	0.2	0	0	HPO
10459	MAD2L2	C1836735	hypopigmented skin patch	0.2	0	0	HPO
10459	MAD2L2	C1843367	Poor school performance	0.2	0	0	HPO
10459	MAD2L2	C1859424	Increased chromosomal breakage	0.2	0	0	HPO
10459	MAD2L2	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
10459	MAD2L2	C1864897	Cognitive delay	0.2	0	0	HPO
10459	MAD2L2	C2749463	Radial aplasia/hypoplasia	0.2	0	0	HPO
10459	MAD2L2	C3714756	Intellectual Disability	0.2	0	0	HPO
10459	MAD2L2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10459	MAD2L2	C4020876	Dull intelligence	0.2	0	0	HPO
10459	MAD2L2	C4024780	Almond-shaped eyes	0.2	0	0	HPO
10460	TACC3	C0005695	Bladder Neoplasm	0.200824180352639	1	0	CTD_human
10460	TACC3	C0007138	Carcinoma, Transitional Cell	0.2	1	0	CTD_human
10460	TACC3	C0206726	gliosarcoma	0.2	0	0	ORPHANET
10460	TACC3	C0334588	Giant Cell Glioblastoma	0.2	0	0	ORPHANET
10461	MERTK	C0017601	Glaucoma	0.2	0	0	HPO
10461	MERTK	C0017661	IGA Glomerulonephritis	0.2	1	0	CTD_human
10461	MERTK	C0018777	Conductive hearing loss	0.2	0	0	HPO
10461	MERTK	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10461	MERTK	C0020459	Hyperinsulinism	0.2	0	0	HPO
10461	MERTK	C0020619	Hypogonadism	0.2	0	0	HPO
10461	MERTK	C0022578	Keratoconus	0.2	0	0	HPO
10461	MERTK	C0025362	Mental Retardation	0.2	0	0	HPO
10461	MERTK	C0028077	Night Blindness	0.2	0	0	HPO
10461	MERTK	C0028738	Nystagmus	0.2	0	0	HPO
10461	MERTK	C0028754	Obesity	0.2	0	0	HPO
10461	MERTK	C0029089	Ophthalmoplegia	0.2	0	0	HPO
10461	MERTK	C0029124	Optic Atrophy	0.2	0	0	HPO
10461	MERTK	C0034065	Pulmonary Embolism	0.2	1	0	CTD_human
10461	MERTK	C0035334	Retinitis Pigmentosa	0.609535569535511	1	2	CTD_human;HPO;ORPHANET
10461	MERTK	C0040038	Thromboembolism	0.2	1	0	CTD_human
10461	MERTK	C0040053	Thrombosis	0.202732912464814	1	0	CTD_human
10461	MERTK	C0085636	Photophobia	0.2	0	0	HPO
10461	MERTK	C0086543	Cataract	0.2	0	0	HPO
10461	MERTK	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
10461	MERTK	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10461	MERTK	C0271215	Blindness, Legal	0.2	0	0	HPO
10461	MERTK	C0423903	Low intelligence	0.2	0	0	HPO
10461	MERTK	C0456909	Blind Vision	0.2	0	0	HPO
10461	MERTK	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10461	MERTK	C0554970	Pallor of optic disc	0.2	0	0	HPO
10461	MERTK	C0917816	Mental deficiency	0.2	0	0	HPO
10461	MERTK	C1288283	Atrophoderma maculatum	0.2	0	0	HPO
10461	MERTK	C1510497	Lens Opacities	0.2	0	0	HPO
10461	MERTK	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10461	MERTK	C1839364	Progressive visual loss	0.2	0	0	HPO
10461	MERTK	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10461	MERTK	C1840077	Anteverted nostril	0.2	0	0	HPO
10461	MERTK	C1843367	Poor school performance	0.2	0	0	HPO
10461	MERTK	C1849367	Nasal bridge wide	0.2	0	0	HPO
10461	MERTK	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10461	MERTK	C3151228	RETINITIS PIGMENTOSA 38 (disorder)	0.2	1	8	UNIPROT
10461	MERTK	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
10461	MERTK	C3553016	Peripheral retinal atrophy	0.2	0	0	HPO
10461	MERTK	C3714756	Intellectual Disability	0.2	0	0	HPO
10461	MERTK	C4020876	Dull intelligence	0.2	0	0	HPO
10461	MERTK	C4020885	Difficulties with night vision	0.2	0	0	HPO
10461	MERTK	C4020887	Photodysphoria	0.2	0	0	HPO
10461	MERTK	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10461	MERTK	C4021786	Atypical scarring of skin	0.2	0	0	HPO
10461	MERTK	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
10461	MERTK	C4024818	Night blindness, progressive	0.2	0	0	HPO
10464	PIBF1	C0000821	Threatened abortion	0.2	1	0	CTD_human
10466	COG5	C0025362	Mental Retardation	0.2	0	0	HPO
10466	COG5	C0026827	Muscle hypotonia	0.2	0	0	HPO
10466	COG5	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10466	COG5	C0423903	Low intelligence	0.2	0	0	HPO
10466	COG5	C0427190	Ataxia, Truncal	0.2	0	0	HPO
10466	COG5	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10466	COG5	C0917816	Mental deficiency	0.2	0	0	HPO
10466	COG5	C1837899	Isoelectric focusing of serum transferrin consistent with CDG type I	0.2	0	0	HPO
10466	COG5	C1843367	Poor school performance	0.2	0	0	HPO
10466	COG5	C3150876	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi	0.4	0	0	CTD_human;ORPHANET
10466	COG5	C3714756	Intellectual Disability	0.2	0	0	HPO
10466	COG5	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10466	COG5	C4020876	Dull intelligence	0.2	0	0	HPO
10466	COG5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10466	COG5	C4024900	Brainstem atrophy	0.2	0	0	HPO
10468	FST	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
10468	FST	C0023903	Liver neoplasms	0.200549453568426	1	0	CTD_human
10468	FST	C0032460	Polycystic Ovary Syndrome	0.210294237353521	0	0	CTD_human
10468	FST	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10468	FST	C0162557	Liver Failure, Acute	0.2	1	0	CTD_human
10468	FST	C1458155	Mammary Neoplasms	0.200274726784213	1	0	CTD_human
10468	FST	C2239176	Liver carcinoma	0.201098907136852	2	0	CTD_human
10472	ZBTB18	C0014544	Epilepsy	0.2	0	0	HPO
10472	ZBTB18	C0020534	Orbital separation excessive	0.2	0	0	HPO
10472	ZBTB18	C0025362	Mental Retardation	0.2	0	0	HPO
10472	ZBTB18	C0025990	Micrognathism	0.2	0	0	HPO
10472	ZBTB18	C0026827	Muscle hypotonia	0.2	0	0	HPO
10472	ZBTB18	C0036572	Seizures	0.2	0	0	HPO
10472	ZBTB18	C0175754	Agenesis of corpus callosum	0.200549453568426	0	0	HPO
10472	ZBTB18	C0239234	Low set ears	0.2	0	0	HPO
10472	ZBTB18	C0239479	Round face	0.2	0	0	HPO
10472	ZBTB18	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10472	ZBTB18	C0349588	Short stature	0.2	0	0	HPO
10472	ZBTB18	C0423903	Low intelligence	0.2	0	0	HPO
10472	ZBTB18	C0424688	Small head	0.2	0	0	HPO
10472	ZBTB18	C0431483	Simple ear	0.2	0	0	HPO
10472	ZBTB18	C0557874	Global developmental delay	0.2	0	0	HPO
10472	ZBTB18	C0578038	Thin lips	0.2	0	0	HPO
10472	ZBTB18	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10472	ZBTB18	C0857379	Auricular malformation	0.2	0	0	HPO
10472	ZBTB18	C0917816	Mental deficiency	0.2	0	0	HPO
10472	ZBTB18	C1142533	Smooth philtrum	0.2	0	0	HPO
10472	ZBTB18	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10472	ZBTB18	C1837260	Prominent forehead	0.2	0	0	HPO
10472	ZBTB18	C1843367	Poor school performance	0.2	0	0	HPO
10472	ZBTB18	C1856468	Round, full face	0.2	0	0	HPO
10472	ZBTB18	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10472	ZBTB18	C1861403	Variable expressivity	0.2	0	0	HPO
10472	ZBTB18	C1861866	Hypoplasia or absence of the corpus callosum	0.2	0	0	HPO
10472	ZBTB18	C1864897	Cognitive delay	0.2	0	0	HPO
10472	ZBTB18	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
10472	ZBTB18	C1866862	Highly variable severity	0.2	0	0	HPO
10472	ZBTB18	C1867446	Bulging forehead	0.2	0	0	HPO
10472	ZBTB18	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10472	ZBTB18	C3714756	Intellectual Disability	0.2	0	0	HPO
10472	ZBTB18	C3808184	MENTAL RETARDATION, AUTOSOMAL DOMINANT 22	0.28	0	0	ORPHANET
10472	ZBTB18	C4020875	Mental and motor retardation	0.2	0	0	HPO
10472	ZBTB18	C4020876	Dull intelligence	0.2	0	0	HPO
10472	ZBTB18	C4273897	Distal monosomy 1q	0.2	0	0	ORPHANET
10472	ZBTB18	C4280495	Concave bridge of nose	0.2	0	0	HPO
1048	CEACAM5	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
10481	HOXB13	C0025202	melanoma	0.203007639249027	1	0	CTD_human
10481	HOXB13	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
10481	HOXB13	C0033578	Prostatic Neoplasms	0.205740551713841	4	0	CTD_human
10481	HOXB13	C0376358	Malignant neoplasm of prostate	0.210989071368524	1	1	UNIPROT
10481	HOXB13	C1458155	Mammary Neoplasms	0.216071590847357	1	0	CTD_human
10481	HOXB13	C2931456	Prostate cancer, familial	0.402197814273705	1	0	CTD_human;ORPHANET
10483	SEC23B	C0002876	Congenital dyserythropoietic anemia	0.201923087489492	1	1	CTD_human
10483	SEC23B	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10483	SEC23B	C0008350	Cholelithiasis	0.200274726784213	0	0	HPO
10483	SEC23B	C0018021	Goiter	0.2	0	0	HPO
10483	SEC23B	C0018553	Hamartoma Syndrome, Multiple	0.200274726784213	0	0	ORPHANET
10483	SEC23B	C0018920	Hemangioma, Cavernous	0.2	0	0	HPO
10483	SEC23B	C0022346	Icterus	0.2	0	0	HPO
10483	SEC23B	C0022596	Palmoplantar Keratosis	0.2	0	0	HPO
10483	SEC23B	C0023798	Lipoma	0.2	0	0	HPO
10483	SEC23B	C0024421	Macroglossia	0.2	0	0	HPO
10483	SEC23B	C0025286	Meningioma	0.2	0	0	HPO
10483	SEC23B	C0025362	Mental Retardation	0.2	0	0	HPO
10483	SEC23B	C0027962	Melanocytic nevus	0.2	0	0	HPO
10483	SEC23B	C0030354	Papilloma	0.2	0	0	HPO
10483	SEC23B	C0038002	Splenomegaly	0.2	0	0	HPO
10483	SEC23B	C0040412	Fissured tongue	0.2	0	0	HPO
10483	SEC23B	C0151811	Subcutaneous nodule	0.2	0	0	HPO
10483	SEC23B	C0206160	Reticulocytosis	0.2	0	0	HPO
10483	SEC23B	C0265319	Fibrous skin tumor of tuberous sclerosis	0.2	0	0	HPO
10483	SEC23B	C0332563	Papule	0.2	0	0	HPO
10483	SEC23B	C0332573	Macule	0.2	0	0	HPO
10483	SEC23B	C0334092	Hamartomatous polyp	0.2	0	0	HPO
10483	SEC23B	C0338656	Impaired cognition	0.2	0	0	HPO
10483	SEC23B	C0392708	Ineffective erythropoiesis	0.2	0	0	HPO
10483	SEC23B	C0423903	Low intelligence	0.2	0	0	HPO
10483	SEC23B	C0557874	Global developmental delay	0.2	0	0	HPO
10483	SEC23B	C0678199	Dyserythropoietic anemia	0.200274726784213	0	0	HPO
10483	SEC23B	C0678222	Breast Carcinoma	0.2	0	0	HPO
10483	SEC23B	C0683322	Mental impairment	0.2	0	0	HPO
10483	SEC23B	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
10483	SEC23B	C0917816	Mental deficiency	0.2	0	0	HPO
10483	SEC23B	C0949059	Polyp of large intestine	0.2	0	0	HPO
10483	SEC23B	C1306589	Congenital dyserythropoietic anemia, type II	0.40439562854741	2	7	ORPHANET;UNIPROT
10483	SEC23B	C1368816	Sebaceous adenoma	0.2	0	0	HPO
10483	SEC23B	C1843367	Poor school performance	0.2	0	0	HPO
10483	SEC23B	C1864897	Cognitive delay	0.2	0	0	HPO
10483	SEC23B	C1969913	Hyperkeratosis, generalized	0.2	0	0	HPO
10483	SEC23B	C3277418	Gastrointestinal hamartomatous polyps	0.2	0	0	HPO
10483	SEC23B	C3714756	Intellectual Disability	0.2	0	0	HPO
10483	SEC23B	C4020875	Mental and motor retardation	0.2	0	0	HPO
10483	SEC23B	C4020876	Dull intelligence	0.2	0	0	HPO
10483	SEC23B	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10483	SEC23B	C4021725	Reduced activity of N-acetylglucosaminyltransferase II	0.2	0	0	HPO
10483	SEC23B	C4021849	Conjunctival hamartoma	0.2	0	0	HPO
10483	SEC23B	C4022020	Mucosal telangiectasiae	0.2	0	0	HPO
10483	SEC23B	C4025624	Endopolyploidy on chromosome studies of bone marrow	0.2	0	0	HPO
10483	SEC23B	C4025896	Abnormality of the penis	0.2	0	0	HPO
10483	SEC23B	C4083076	Increased head circumference	0.2	0	0	HPO
10483	SEC23B	C4225179	COWDEN SYNDROME 7	0.2	1	1	UNIPROT
10483	SEC23B	C4255213	Increased size of skull	0.2	0	0	HPO
10483	SEC23B	C4280269	Noncancerous mole	0.2	0	0	HPO
10483	SEC23B	C4280663	Increased size of cranium	0.2	0	0	HPO
10483	SEC23B	C4280664	Big calvaria	0.2	0	0	HPO
10484	SEC23A	C0010417	Cryptorchidism	0.2	0	0	HPO
10484	SEC23A	C0011334	Dental caries	0.2	0	0	HPO
10484	SEC23A	C0016202	Flatfoot	0.2	0	0	HPO
10484	SEC23A	C0020534	Orbital separation excessive	0.2	0	0	HPO
10484	SEC23A	C0024433	Macrostomia	0.2	0	0	HPO
10484	SEC23A	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10484	SEC23A	C0029422	Osteochondrodysplasias	0.2	0	0	HPO
10484	SEC23A	C0037932	Curvature of spine	0.2	0	0	HPO
10484	SEC23A	C0086437	Joint laxity	0.2	0	0	HPO
10484	SEC23A	C0162834	Hyperpigmentation	0.2	0	0	HPO
10484	SEC23A	C0206733	Strawberry nevus of skin	0.2	0	0	HPO
10484	SEC23A	C0221354	Frontal bossing	0.2	0	0	HPO
10484	SEC23A	C0232513	Premature tooth loss	0.2	0	0	HPO
10484	SEC23A	C0235357	Tooth hypoplasia	0.2	0	0	HPO
10484	SEC23A	C0239174	Late tooth eruption	0.2	0	0	HPO
10484	SEC23A	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
10484	SEC23A	C0240340	Microdontia (disorder)	0.2	0	0	HPO
10484	SEC23A	C0263490	Brittle hair	0.2	0	0	HPO
10484	SEC23A	C0264133	Acquired flat foot	0.2	0	0	HPO
10484	SEC23A	C0271165	Punctate cataract	0.2	0	0	HPO
10484	SEC23A	C0277959	Coarse hair	0.2	0	0	HPO
10484	SEC23A	C0349588	Short stature	0.2	0	0	HPO
10484	SEC23A	C0399385	Early tooth exfoliation	0.2	0	0	HPO
10484	SEC23A	C0426421	Wide nose	0.2	0	0	HPO
10484	SEC23A	C0426790	Narrow thorax	0.2	0	0	HPO
10484	SEC23A	C0432073	Defect of skull ossification	0.2	0	0	HPO
10484	SEC23A	C0456132	Large fontanelle	0.2	0	0	HPO
10484	SEC23A	C0578038	Thin lips	0.2	0	0	HPO
10484	SEC23A	C0700208	Acquired scoliosis	0.2	0	0	HPO
10484	SEC23A	C1142533	Smooth philtrum	0.2	0	0	HPO
10484	SEC23A	C1836688	Narrow iliac wings	0.2	0	0	HPO
10484	SEC23A	C1837770	Sparse hair	0.2	0	0	HPO
10484	SEC23A	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10484	SEC23A	C1840077	Anteverted nostril	0.2	0	0	HPO
10484	SEC23A	C1842060	Prominent supraorbital ridges	0.2	0	0	HPO
10484	SEC23A	C1843042	Craniolenticulosutural Dysplasia	0.6	1	2	CTD_human;ORPHANET;UNIPROT
10484	SEC23A	C1849367	Nasal bridge wide	0.2	0	0	HPO
10484	SEC23A	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
10484	SEC23A	C1853242	Midface retrusion	0.2	0	0	HPO
10484	SEC23A	C1854113	Prominent nasal bridge	0.2	0	0	HPO
10484	SEC23A	C1858085	Malar flattening	0.2	0	0	HPO
10484	SEC23A	C1860844	Thin, sparse hair	0.2	0	0	HPO
10484	SEC23A	C1865014	Long philtrum	0.2	0	0	HPO
10484	SEC23A	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
10484	SEC23A	C1866134	Wide anterior fontanel	0.2	0	0	HPO
10484	SEC23A	C1969673	Forehead hyperpigmentation	0.2	0	0	HPO
10484	SEC23A	C1969675	Punctate lenticular opacities	0.2	0	0	HPO
10484	SEC23A	C1969679	Posterior wedging of vertebral bodies	0.2	0	0	HPO
10484	SEC23A	C1969680	Narrow, high iliac wings	0.2	0	0	HPO
10484	SEC23A	C1970705	Fragile hair	0.2	0	0	HPO
10484	SEC23A	C2673410	Small midface	0.2	0	0	HPO
10484	SEC23A	C3840083	Late closure of anterior fontanel	0.2	0	0	HPO
10484	SEC23A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10484	SEC23A	C4021560	Posterior Y-sutural cataract	0.2	0	0	HPO
10484	SEC23A	C4023734	Sutural cataract	0.2	0	0	HPO
10484	SEC23A	C4072820	Large bregma sutures	0.2	0	0	HPO
10484	SEC23A	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
10484	SEC23A	C4072822	Wide bregma sutures	0.2	0	0	HPO
10484	SEC23A	C4072831	Delayed closure of the soft spot on the skull	0.2	0	0	HPO
10484	SEC23A	C4072834	Rough hair texture	0.2	0	0	HPO
10484	SEC23A	C4072837	Fractured hair	0.2	0	0	HPO
10484	SEC23A	C4082243	Maxillary retrognathia	0.2	0	0	HPO
10484	SEC23A	C4083076	Increased head circumference	0.2	0	0	HPO
10484	SEC23A	C4230640	Convex nasal bridge	0.2	0	0	HPO
10484	SEC23A	C4255213	Increased size of skull	0.2	0	0	HPO
10484	SEC23A	C4280320	Hypotrophic midface	0.2	0	0	HPO
10484	SEC23A	C4280321	Decreased projection of midface	0.2	0	0	HPO
10484	SEC23A	C4280533	Decreased calcification of skull	0.2	0	0	HPO
10484	SEC23A	C4280567	Abnormal skeletal development	0.2	0	0	HPO
10484	SEC23A	C4280611	Decreased size of teeth	0.2	0	0	HPO
10484	SEC23A	C4280612	Decreased width of tooth	0.2	0	0	HPO
10484	SEC23A	C4280623	Rotting teeth	0.2	0	0	HPO
10484	SEC23A	C4280636	Hypertrophy of supraorbital ridge	0.2	0	0	HPO
10484	SEC23A	C4280637	Hypertrophy of supraorbital margins	0.2	0	0	HPO
10484	SEC23A	C4280638	Hyperplasia of supraorbital ridge	0.2	0	0	HPO
10484	SEC23A	C4280639	Hyperplasia of supraorbital margins	0.2	0	0	HPO
10484	SEC23A	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
10484	SEC23A	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
10484	SEC23A	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
10484	SEC23A	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
10484	SEC23A	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
10484	SEC23A	C4280663	Increased size of cranium	0.2	0	0	HPO
10484	SEC23A	C4280664	Big calvaria	0.2	0	0	HPO
10487	CAP1	C0029456	Osteoporosis	0.2	1	0	CTD_human
10491	CRTAP	C0006157	Breech Presentation	0.2	0	0	HPO
10491	CRTAP	C0015300	Exophthalmos	0.2	0	0	HPO
10491	CRTAP	C0020295	Hydronephrosis	0.2	0	0	HPO
10491	CRTAP	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10491	CRTAP	C0025995	Micromelia	0.2	0	0	HPO
10491	CRTAP	C0029434	Osteogenesis Imperfecta	0.211235087398103	1	0	CTD_human
10491	CRTAP	C0029453	Osteopenia	0.2	0	0	HPO
10491	CRTAP	C0037932	Curvature of spine	0.2	0	0	HPO
10491	CRTAP	C0222716	Structure of wormian bone	0.2	0	0	HPO
10491	CRTAP	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
10491	CRTAP	C0239479	Round face	0.2	0	0	HPO
10491	CRTAP	C0262431	Compression fracture of vertebral column	0.2	0	0	HPO
10491	CRTAP	C0265905	Agenesis of pulmonary artery	0.2	0	0	HPO
10491	CRTAP	C0268358	Osteogenesis imperfecta, dominant perinatal lethal	0.200274726784213	0	0	ORPHANET
10491	CRTAP	C0268362	Osteogenesis imperfecta type III (disorder)	0.2	0	0	ORPHANET
10491	CRTAP	C0268363	Osteogenesis imperfecta type IV (disorder)	0.2	0	0	ORPHANET
10491	CRTAP	C0277828	Late fontanel closure	0.2	0	0	HPO
10491	CRTAP	C0409495	Protrusio acetabuli	0.2	0	0	HPO
10491	CRTAP	C0410550	Collapse of vertebra	0.2	0	0	HPO
10491	CRTAP	C0410935	Wide cranial sutures	0.2	0	0	HPO
10491	CRTAP	C0426790	Narrow thorax	0.2	0	0	HPO
10491	CRTAP	C0542514	Blue sclera	0.2	0	0	HPO
10491	CRTAP	C0544755	Genu varum	0.2	0	0	HPO
10491	CRTAP	C0700208	Acquired scoliosis	0.2	0	0	HPO
10491	CRTAP	C0747078	Generalized osteopenia	0.2	0	0	HPO
10491	CRTAP	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
10491	CRTAP	C1833762	Soft calvaria	0.2	0	0	HPO
10491	CRTAP	C1837760	Prominent eyes	0.2	0	0	HPO
10491	CRTAP	C1844947	Death in early childhood	0.2	0	0	HPO
10491	CRTAP	C1848490	Protruding eyes	0.2	0	0	HPO
10491	CRTAP	C1853162	Osteogenesis Imperfecta Type VII	0.280549453568426	2	9	UNIPROT
10491	CRTAP	C1853171	Multiple fractures present at birth	0.2	0	0	HPO
10491	CRTAP	C1856468	Round, full face	0.2	0	0	HPO
10491	CRTAP	C1858430	Death in infancy	0.2	0	0	HPO
10491	CRTAP	C1862425	Prominent globes	0.2	0	0	HPO
10491	CRTAP	C1865014	Long philtrum	0.2	0	0	HPO
10491	CRTAP	C1866134	Wide anterior fontanel	0.2	0	0	HPO
10491	CRTAP	C1866730	Rhizomelia	0.200274726784213	0	0	HPO
10491	CRTAP	C1970461	Externally rotated/abducted legs	0.2	0	0	HPO
10491	CRTAP	C1970497	Crumpled long bones	0.2	0	0	HPO
10491	CRTAP	C1970501	Hypoplastic pulmonary veins	0.2	0	0	HPO
10491	CRTAP	C2051831	Pectus excavatum	0.2	0	0	HPO
10491	CRTAP	C2931095	Osteogenesis imperfecta, type 7	0.2	0	0	CTD_human
10491	CRTAP	C3805574	Increased fracture rate	0.2	0	0	HPO
10491	CRTAP	C3806283	Frequent fractures	0.2	0	0	HPO
10491	CRTAP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10495	ENOX2	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
10498	CARM1	C0033860	Psoriasis	0.2	1	0	CTD_human
10499	NCOA2	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
10499	NCOA2	C1458155	Mammary Neoplasms	0.203007639249027	1	0	CTD_human
105	ADARB2	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1050	CEBPA	C0007137	Squamous cell carcinoma	0.203007639249027	2	0	CTD_human
1050	CEBPA	C0018671	Head and Neck Neoplasms	0.2	1	0	CTD_human
1050	CEBPA	C0021361	Female infertility	0.2	1	0	CTD_human
1050	CEBPA	C0023467	Leukemia, Myelocytic, Acute	0.796297086026692	3	10	CTD_human;HPO;UNIPROT
1050	CEBPA	C0023487	Acute Promyelocytic Leukemia	0.201373633921065	2	0	CTD_human
1050	CEBPA	C0027666	Neoplasms, Radiation-Induced	0.2	1	0	CTD_human
1050	CEBPA	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
1050	CEBPA	C0037286	Skin Neoplasms	0.2	1	0	CTD_human
1050	CEBPA	C2239176	Liver carcinoma	0.203021994626344	2	0	CTD_human
1051	CEBPB	C0007786	Brain Ischemia	0.2	1	0	CTD_human
1051	CEBPB	C0015695	Fatty Liver	0.2	1	0	CTD_human
1051	CEBPB	C0021361	Female infertility	0.2	1	0	CTD_human
1051	CEBPB	C0034069	Pulmonary Fibrosis	0.200274726784213	1	0	CTD_human
1051	CEBPB	C2239176	Liver carcinoma	0.205480180306945	1	0	CTD_human
10512	SEMA3C	C0000737	Abdominal Pain	0.2	0	0	HPO
10512	SEMA3C	C0009806	Constipation	0.2	0	0	HPO
10512	SEMA3C	C0019569	Hirschsprung Disease	0.400274726784213	0	0	HPO;ORPHANET
10512	SEMA3C	C0021843	Intestinal Obstruction	0.2	0	0	HPO
10512	SEMA3C	C0025160	Megacolon	0.2	0	0	HPO
10512	SEMA3C	C0027498	Nausea and vomiting	0.2	0	0	HPO
10512	SEMA3C	C0041207	Truncus Arteriosus, Persistent	0.2	1	0	CTD_human
10512	SEMA3C	C0237326	Dyschezia	0.2	0	0	HPO
10512	SEMA3C	C1262477	Weight decreased	0.2	0	0	HPO
10516	FBLN5	C0003486	Aortic Aneurysm	0.2	0	0	HPO
10516	FBLN5	C0003499	Supravalvular aortic stenosis	0.2	0	0	HPO
10516	FBLN5	C0003706	Arachnodactyly	0.2	0	0	HPO
10516	FBLN5	C0004144	Atelectasis	0.2	0	0	HPO
10516	FBLN5	C0005745	Blepharoptosis	0.2	0	0	HPO
10516	FBLN5	C0010495	Cutis Laxa	0.209037273124398	0	0	HPO
10516	FBLN5	C0013990	Pathological accumulation of air in tissues	0.2	1	0	CTD_human
10516	FBLN5	C0016052	Fibromuscular Dysplasia	0.2	0	0	HPO
10516	FBLN5	C0018801	Heart failure	0.2	1	0	CTD_human
10516	FBLN5	C0019294	Hernia, Inguinal	0.2	0	0	HPO
10516	FBLN5	C0019322	Umbilical hernia	0.2	0	0	HPO
10516	FBLN5	C0020534	Orbital separation excessive	0.2	0	0	HPO
10516	FBLN5	C0020542	Pulmonary Hypertension	0.2	1	0	CTD_human
10516	FBLN5	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
10516	FBLN5	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10516	FBLN5	C0034067	Pulmonary Emphysema	0.200549453568426	0	0	HPO
10516	FBLN5	C0035222	Respiratory Distress Syndrome, Adult	0.2	1	0	CTD_human
10516	FBLN5	C0035229	Respiratory Insufficiency	0.2	1	0	CTD_human
10516	FBLN5	C0035243	Respiratory Tract Infections	0.2	1	0	CTD_human
10516	FBLN5	C0037301	Skin Wrinkling	0.2	0	0	HPO
10516	FBLN5	C0037932	Curvature of spine	0.2	0	0	HPO
10516	FBLN5	C0038449	Stricture of artery	0.2	0	0	HPO
10516	FBLN5	C0042373	Vascular Diseases	0.2	1	0	CTD_human
10516	FBLN5	C0079924	Oligohydramnios	0.2	0	0	HPO
10516	FBLN5	C0086437	Joint laxity	0.2	0	0	HPO
10516	FBLN5	C0156273	Bladder Diverticulum	0.2	0	0	HPO
10516	FBLN5	C0235833	Congenital diaphragmatic hernia	0.2	0	0	HPO
10516	FBLN5	C0262655	Recurrent urinary tract infection	0.2	0	0	HPO
10516	FBLN5	C0266617	Congenital anomaly of face	0.2	0	0	HPO
10516	FBLN5	C0268350	Cutis Laxa, Autosomal Dominant	0.2	0	0	ORPHANET
10516	FBLN5	C0268351	Cutis Laxa, Autosomal Recessive, Type I	0.481373633921066	7	5	CTD_human;UNIPROT
10516	FBLN5	C0277828	Late fontanel closure	0.2	0	0	HPO
10516	FBLN5	C0424688	Small head	0.2	0	0	HPO
10516	FBLN5	C0432336	Cutis laxa, recessive, type I	0.2	0	0	ORPHANET
10516	FBLN5	C0581342	Redundant skin	0.2	0	0	HPO
10516	FBLN5	C0700208	Acquired scoliosis	0.2	0	0	HPO
10516	FBLN5	C0856747	Aneurysm of ascending aorta	0.2	0	0	HPO
10516	FBLN5	C1258215	Ileus	0.2	0	0	HPO
10516	FBLN5	C1260959	Drusen	0.2	0	0	HPO
10516	FBLN5	C1290857	Disorder of face	0.2	0	0	HPO
10516	FBLN5	C1394691	Bowel diverticula	0.2	0	0	HPO
10516	FBLN5	C1395674	Bowel diverticulosis	0.2	0	0	HPO
10516	FBLN5	C1837187	MACULAR DEGENERATION, AGE-RELATED, 3	0.2	0	0	CTD_human
10516	FBLN5	C1847584	Distal sensory impairment	0.2	0	0	HPO
10516	FBLN5	C1849265	Overgrowth	0.2	0	0	HPO
10516	FBLN5	C1851731	Generalized overgrowth	0.2	0	0	HPO
10516	FBLN5	C1866231	Full cheeks	0.2	0	0	HPO
10516	FBLN5	C2051831	Pectus excavatum	0.2	0	0	HPO
10516	FBLN5	C2315541	Diverticulum of renal calyx	0.2	0	0	HPO
10516	FBLN5	C2673776	Vascular tortuosity	0.2	0	0	HPO
10516	FBLN5	C2748653	Chubby cheeks	0.2	0	0	HPO
10516	FBLN5	C2930812	Generalized elastolysis	0.2	0	0	HPO
10516	FBLN5	C2931134	Cutis laxa, recessive	0.200549453568426	1	0	CTD_human
10516	FBLN5	C3150281	Fetal overgrowth	0.2	0	0	HPO
10516	FBLN5	C3276539	CUTIS LAXA, AUTOSOMAL DOMINANT 1	0.2	0	0	CTD_human
10516	FBLN5	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
10516	FBLN5	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
10516	FBLN5	C3553764	Joint hyperflexibility	0.2	0	0	HPO
10516	FBLN5	C3806443	Puffy cheeks	0.2	0	0	HPO
10516	FBLN5	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
10516	FBLN5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10516	FBLN5	C4023323	Choroidal neovascularization of the macula	0.2	0	0	HPO
10516	FBLN5	C4025871	Abnormality of the face	0.2	0	0	HPO
10516	FBLN5	C4225406	NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION	0.4	6	11	ORPHANET;UNIPROT
10516	FBLN5	C4280606	Hanging skin	0.2	0	0	HPO
10516	FBLN5	C4280647	Hypertrophy of cheeks	0.2	0	0	HPO
10516	FBLN5	C4280648	Hyperplasia of cheeks	0.2	0	0	HPO
10518	CIB2	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10518	CIB2	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10518	CIB2	C0018979	Hemianopsia	0.2	0	0	HPO
10518	CIB2	C0025362	Mental Retardation	0.2	0	0	HPO
10518	CIB2	C0028077	Night Blindness	0.2	0	0	HPO
10518	CIB2	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
10518	CIB2	C0036341	Schizophrenia	0.200274726784213	0	0	HPO
10518	CIB2	C0036454	Scotoma	0.2	0	0	HPO
10518	CIB2	C0086543	Cataract	0.2	0	0	HPO
10518	CIB2	C0154920	Pigmentary iris degeneration	0.2	0	0	HPO
10518	CIB2	C0344233	Retinal blind spot	0.2	0	0	HPO
10518	CIB2	C0423903	Low intelligence	0.2	0	0	HPO
10518	CIB2	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10518	CIB2	C0557874	Global developmental delay	0.2	0	0	HPO
10518	CIB2	C0917816	Mental deficiency	0.2	0	0	HPO
10518	CIB2	C1510497	Lens Opacities	0.2	0	0	HPO
10518	CIB2	C1568247	Usher Syndrome, Type I	0.200274726784213	0	0	ORPHANET
10518	CIB2	C1836199	DEAFNESS, AUTOSOMAL RECESSIVE 48	0.200274726784213	3	3	UNIPROT
10518	CIB2	C1843367	Poor school performance	0.2	0	0	HPO
10518	CIB2	C1843865	Vestibular dysfunction	0.2	0	0	HPO
10518	CIB2	C1848606	Vestibular hypofunction	0.2	0	0	HPO
10518	CIB2	C1854301	Motor delay	0.2	0	0	HPO
10518	CIB2	C1864897	Cognitive delay	0.2	0	0	HPO
10518	CIB2	C2752013	Prenatal onset	0.2	0	0	HPO
10518	CIB2	C3279222	Cerebellar hypoplasia and atrophy	0.2	0	0	HPO
10518	CIB2	C3553944	USHER SYNDROME, TYPE IJ	0.400274726784213	1	1	CTD_human;UNIPROT
10518	CIB2	C3665386	Abnormal vision	0.2	0	0	HPO
10518	CIB2	C3714756	Intellectual Disability	0.2	0	0	HPO
10518	CIB2	C4020874	No development of motor milestones	0.2	0	0	HPO
10518	CIB2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10518	CIB2	C4020876	Dull intelligence	0.2	0	0	HPO
10518	CIB2	C4020885	Difficulties with night vision	0.2	0	0	HPO
10518	CIB2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10518	CIB2	C4023338	Profound sensorineural hearing impairment	0.2	0	0	HPO
10518	CIB2	C4024665	High-grade hypermetropia	0.2	0	0	HPO
10518	CIB2	C4025858	Abnormality of cochlea	0.2	0	0	HPO
10522	DEAF1	C0001807	Aggressive behavior	0.2	0	0	HPO
10522	DEAF1	C0011570	Mental Depression	0.200274726784213	4	0	PSYGENET
10522	DEAF1	C0011581	Depressive disorder	0.200274726784213	4	0	PSYGENET
10522	DEAF1	C0025362	Mental Retardation	0.2	0	0	HPO
10522	DEAF1	C0041696	Unipolar Depression	0.200274726784213	5	0	PSYGENET
10522	DEAF1	C0085633	Mood swings	0.2	0	0	HPO
10522	DEAF1	C0239998	Recurrent infections	0.2	0	0	HPO
10522	DEAF1	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10522	DEAF1	C0399526	Class III malocclusion	0.2	0	0	HPO
10522	DEAF1	C0423903	Low intelligence	0.2	0	0	HPO
10522	DEAF1	C0424323	Physical aggression	0.2	0	0	HPO
10522	DEAF1	C0557874	Global developmental delay	0.2	0	0	HPO
10522	DEAF1	C0575081	Gait abnormality	0.2	0	0	HPO
10522	DEAF1	C0917816	Mental deficiency	0.2	0	0	HPO
10522	DEAF1	C1269683	Major Depressive Disorder	0.200274726784213	5	0	PSYGENET
10522	DEAF1	C1445953	Poor eye contact	0.2	0	0	HPO
10522	DEAF1	C1457883	Aggressive reaction	0.2	0	0	HPO
10522	DEAF1	C1839739	Prominent lower lip	0.2	0	0	HPO
10522	DEAF1	C1839767	Inverted V-shaped upper lip	0.2	0	0	HPO
10522	DEAF1	C1843367	Poor school performance	0.2	0	0	HPO
10522	DEAF1	C1850072	Tented upper lip	0.2	0	0	HPO
10522	DEAF1	C1853383	Tented mouth	0.2	0	0	HPO
10522	DEAF1	C1864897	Cognitive delay	0.2	0	0	HPO
10522	DEAF1	C2053437	Full lower lip	0.2	0	0	HPO
10522	DEAF1	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10522	DEAF1	C3277019	Straight eyebrows	0.2	0	0	HPO
10522	DEAF1	C3714756	Intellectual Disability	0.401373633921066	1	0	CTD_human;HPO
10522	DEAF1	C4014414	MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	0.2	2	4	UNIPROT
10522	DEAF1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10522	DEAF1	C4020876	Dull intelligence	0.2	0	0	HPO
10522	DEAF1	C4280644	Increased size of mandible	0.2	0	0	HPO
10522	DEAF1	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10525	HYOU1	C1846707	SPINOCEREBELLAR ATAXIA 17	0.2	1	0	CTD_human
10527	IPO7	C0019693	HIV Infections	0.200274726784213	1	0	CTD_human
10528	NOP56	C0013362	Dysarthria	0.2	0	0	HPO
10528	NOP56	C0034935	Babinski Reflex	0.2	0	0	HPO
10528	NOP56	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10528	NOP56	C0151889	Hyperreflexia	0.2	0	0	HPO
10528	NOP56	C0239548	Fasciculation, Tongue	0.2	0	0	HPO
10528	NOP56	C0241423	Atrophy of tongue	0.200274726784213	0	0	HPO
10528	NOP56	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10528	NOP56	C0426494	Wasting of tongue	0.2	0	0	HPO
10528	NOP56	C0520966	Abnormal coordination	0.2	0	0	HPO
10528	NOP56	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10528	NOP56	C0750937	Ataxia, Appendicular	0.2	0	0	HPO
10528	NOP56	C0751837	Gait Ataxia	0.2	0	0	HPO
10528	NOP56	C1321329	Slowed saccades	0.2	0	0	HPO
10528	NOP56	C1837458	Impaired smooth pursuit	0.2	0	0	HPO
10528	NOP56	C1848530	Abnormal visual pursuit	0.2	0	0	HPO
10528	NOP56	C1864985	Progressive disorder	0.2	0	0	HPO
10528	NOP56	C3472711	Spinocerebellar ataxia 36	0.201098907136852	0	0	ORPHANET
10528	NOP56	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10533	ATG7	C0002871	Anemia	0.2	1	0	CTD_human
10533	ATG7	C0023380	Lethargy	0.2	1	0	CTD_human
10533	ATG7	C0024312	Lymphopenia	0.2	1	0	CTD_human
10533	ATG7	C0027540	Necrosis	0.2	1	0	CTD_human
10533	ATG7	C1262477	Weight decreased	0.2	1	0	CTD_human
10535	RNASEH2A	C0013421	Dystonia	0.2	0	0	HPO
10535	RNASEH2A	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10535	RNASEH2A	C0019209	Hepatomegaly	0.2	0	0	HPO
10535	RNASEH2A	C0019214	Hepatosplenomegaly	0.2	0	0	HPO
10535	RNASEH2A	C0020255	Hydrocephalus	0.2	0	0	HPO
10535	RNASEH2A	C0020796	Profound Mental Retardation	0.2	0	0	HPO
10535	RNASEH2A	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10535	RNASEH2A	C0023520	Leukodystrophy	0.2	0	0	HPO
10535	RNASEH2A	C0026838	Muscle Spasticity	0.2	0	0	HPO
10535	RNASEH2A	C0030312	Pancytopenia	0.2	0	0	HPO
10535	RNASEH2A	C0038002	Splenomegaly	0.2	0	0	HPO
10535	RNASEH2A	C0040034	Thrombocytopenia	0.2	0	0	HPO
10535	RNASEH2A	C0078982	Arhinencephaly	0.2	0	0	HPO
10535	RNASEH2A	C0086565	Liver Dysfunction	0.2	0	0	HPO
10535	RNASEH2A	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
10535	RNASEH2A	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10535	RNASEH2A	C0232466	Feeding difficulties	0.2	0	0	HPO
10535	RNASEH2A	C0235946	Cerebral atrophy	0.2	0	0	HPO
10535	RNASEH2A	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
10535	RNASEH2A	C0239234	Low set ears	0.2	0	0	HPO
10535	RNASEH2A	C0240538	Convex nasal ridge	0.2	0	0	HPO
10535	RNASEH2A	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10535	RNASEH2A	C0270685	Cerebral calcification	0.2	0	0	HPO
10535	RNASEH2A	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
10535	RNASEH2A	C0392386	Decreased platelet count	0.2	0	0	HPO
10535	RNASEH2A	C0393591	AICARDI-GOUTIERES SYNDROME	0.200274726784213	0	0	ORPHANET
10535	RNASEH2A	C0427877	Cerebrospinal fluid lymphocytosis	0.2	0	0	HPO
10535	RNASEH2A	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
10535	RNASEH2A	C0438717	Transaminases increased	0.2	0	0	HPO
10535	RNASEH2A	C0521573	Coloboma of eyelid	0.2	0	0	HPO
10535	RNASEH2A	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10535	RNASEH2A	C0877359	Liver function test increased	0.2	0	0	HPO
10535	RNASEH2A	C1386048	Intrauterine retardation	0.2	0	0	HPO
10535	RNASEH2A	C1835912	AICARDI-GOUTIERES SYNDROME 4	0.4	2	12	CTD_human;UNIPROT
10535	RNASEH2A	C1837397	Global developmental delay, severe	0.2	0	0	HPO
10535	RNASEH2A	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
10535	RNASEH2A	C1843392	Death in childhood	0.2	0	0	HPO
10535	RNASEH2A	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
10535	RNASEH2A	C1848924	Infantile onset	0.2	0	0	HPO
10535	RNASEH2A	C1850456	Progressive microcephaly	0.2	0	0	HPO
10535	RNASEH2A	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
10535	RNASEH2A	C3161330	Profound intellectual disabilities	0.2	0	0	HPO
10535	RNASEH2A	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10535	RNASEH2A	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10535	RNASEH2A	C4020871	Dystonic disease	0.2	0	0	HPO
10535	RNASEH2A	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10535	RNASEH2A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10535	RNASEH2A	C4082173	Porencephaly	0.2	0	0	HPO
10536	P3H3	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10537	UBD	C0019188	Hepatitis, Animal	0.2	1	0	CTD_human
10537	UBD	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
10537	UBD	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10537	UBD	C2239176	Liver carcinoma	0.204655999954305	1	0	CTD_human
10539	GLRX3	C0018800	Cardiomegaly	0.2	1	0	CTD_human
10542	LAMTOR5	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10544	PROCR	C0021368	Inflammation	0.205139940988102	1	0	CTD_human
10544	PROCR	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10549	PRDX4	C0020456	Hyperglycemia	0.2	1	0	CTD_human
10549	PRDX4	C0079744	Diffuse Large B-Cell Lymphoma	0.2	1	0	CTD_human
10549	PRDX4	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
10549	PRDX4	C0271650	Impaired glucose tolerance	0.2	1	0	CTD_human
10550	ARL6IP5	C0038356	Stomach Neoplasms	0.202732912464814	1	0	CTD_human
10550	ARL6IP5	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
10551	AGR2	C0033578	Prostatic Neoplasms	0.205465824929628	2	0	CTD_human
10551	AGR2	C1458155	Mammary Neoplasms	0.20328236603324	1	0	CTD_human
10555	AGPAT2	C0000889	Acanthosis Nigricans	0.2	0	0	HPO
10555	AGPAT2	C0001206	Acromegaly	0.2	0	0	HPO
10555	AGPAT2	C0001339	Acute pancreatitis	0.2	0	0	HPO
10555	AGPAT2	C0005937	Bone Cysts	0.2	0	0	HPO
10555	AGPAT2	C0007194	Hypertrophic Cardiomyopathy	0.200274726784213	0	0	HPO
10555	AGPAT2	C0011849	Diabetes Mellitus	0.200549453568426	0	0	HPO
10555	AGPAT2	C0011859	Lipoatrophic Diabetes Mellitus	0.2	0	0	ORPHANET
10555	AGPAT2	C0019209	Hepatomegaly	0.2	0	0	HPO
10555	AGPAT2	C0019322	Umbilical hernia	0.2	0	0	HPO
10555	AGPAT2	C0019572	Hirsutism	0.2	0	0	HPO
10555	AGPAT2	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
10555	AGPAT2	C0020459	Hyperinsulinism	0.2	0	0	HPO
10555	AGPAT2	C0020505	Hyperphagia	0.2	0	0	HPO
10555	AGPAT2	C0021655	Insulin Resistance	0.2	0	0	HPO
10555	AGPAT2	C0023787	Lipodystrophy	0.208762546340185	0	0	HPO
10555	AGPAT2	C0023890	Liver Cirrhosis	0.2	0	0	HPO
10555	AGPAT2	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
10555	AGPAT2	C0032460	Polycystic Ovary Syndrome	0.2	0	0	HPO
10555	AGPAT2	C0034013	Precocious Puberty	0.2	0	0	HPO
10555	AGPAT2	C0038002	Splenomegaly	0.2	0	0	HPO
10555	AGPAT2	C0038990	Sweating	0.2	0	0	HPO
10555	AGPAT2	C0085605	Liver Failure	0.2	0	0	HPO
10555	AGPAT2	C0151639	Decreased fertility in females	0.2	0	0	HPO
10555	AGPAT2	C0156394	Hypertrophy of clitoris	0.2	0	0	HPO
10555	AGPAT2	C0221032	Familial generalized lipodystrophy	0.215876731975091	0	0	CTD_human
10555	AGPAT2	C0232461	Increased appetite (finding)	0.2	0	0	HPO
10555	AGPAT2	C0235986	Growth hormone excess	0.2	0	0	HPO
10555	AGPAT2	C0241240	Tall stature	0.2	0	0	HPO
10555	AGPAT2	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10555	AGPAT2	C0399526	Class III malocclusion	0.2	0	0	HPO
10555	AGPAT2	C0404531	Hypertrophy of labia	0.2	0	0	HPO
10555	AGPAT2	C0423903	Low intelligence	0.2	0	0	HPO
10555	AGPAT2	C0426870	Large hand	0.2	0	0	HPO
10555	AGPAT2	C0545053	Advanced bone age	0.2	0	0	HPO
10555	AGPAT2	C0576225	Long foot	0.2	0	0	HPO
10555	AGPAT2	C0700590	Increased sweating	0.2	0	0	HPO
10555	AGPAT2	C0917816	Mental deficiency	0.2	0	0	HPO
10555	AGPAT2	C1136382	Sclerocystic Ovaries	0.2	0	0	HPO
10555	AGPAT2	C1260926	Abnormal pigmentation	0.2	0	0	HPO
10555	AGPAT2	C1280433	Lipoatrophy	0.200549453568426	0	0	HPO
10555	AGPAT2	C1522137	Hypertriglyceridemia result	0.2	0	0	HPO
10555	AGPAT2	C1720862	Congenital Generalized Lipodystrophy Type 1	0.280549453568426	1	25	UNIPROT
10555	AGPAT2	C1837792	Insulin-resistant diabetes mellitus at puberty	0.2	0	0	HPO
10555	AGPAT2	C1837795	Prominent umbilicus	0.2	0	0	HPO
10555	AGPAT2	C1837797	Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)	0.2	0	0	HPO
10555	AGPAT2	C1837799	Generalized muscular appearance from birth	0.2	0	0	HPO
10555	AGPAT2	C1837802	Decreased serum leptin	0.2	0	0	HPO
10555	AGPAT2	C1842060	Prominent supraorbital ridges	0.2	0	0	HPO
10555	AGPAT2	C1843367	Poor school performance	0.2	0	0	HPO
10555	AGPAT2	C1849211	Generalized hirsutism	0.2	0	0	HPO
10555	AGPAT2	C1866241	Broad feet	0.2	0	0	HPO
10555	AGPAT2	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10555	AGPAT2	C2265792	Skeletal muscle hypertrophy	0.2	0	0	HPO
10555	AGPAT2	C2711227	Steatohepatitis	0.200274726784213	0	0	HPO
10555	AGPAT2	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
10555	AGPAT2	C4020876	Dull intelligence	0.2	0	0	HPO
10555	AGPAT2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10555	AGPAT2	C4021749	Cystic angiomatosis of bone	0.2	0	0	HPO
10555	AGPAT2	C4280636	Hypertrophy of supraorbital ridge	0.2	0	0	HPO
10555	AGPAT2	C4280637	Hypertrophy of supraorbital margins	0.2	0	0	HPO
10555	AGPAT2	C4280638	Hyperplasia of supraorbital ridge	0.2	0	0	HPO
10555	AGPAT2	C4280639	Hyperplasia of supraorbital margins	0.2	0	0	HPO
10555	AGPAT2	C4280644	Increased size of mandible	0.2	0	0	HPO
10555	AGPAT2	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10557	RPP38	C0025202	melanoma	0.2	1	0	CTD_human
10558	SPTLC1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10558	SPTLC1	C0020071	Hereditary Sensory Autonomic Neuropathy, Type 1	0.606868169605328	4	7	CTD_human;ORPHANET;UNIPROT
10558	SPTLC1	C0037268	Skin Abnormalities	0.2	0	0	HPO
10558	SPTLC1	C0037274	Dermatologic disorders	0.2	0	0	HPO
10558	SPTLC1	C0234146	Absent reflex	0.2	0	0	HPO
10558	SPTLC1	C0234958	muscle degeneration	0.2	0	0	HPO
10558	SPTLC1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10558	SPTLC1	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
10558	SPTLC1	C0278124	Absent tendon reflex	0.2	0	0	HPO
10558	SPTLC1	C0427065	Distal muscle weakness	0.2	0	0	HPO
10558	SPTLC1	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
10558	SPTLC1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
10558	SPTLC1	C0728829	Congenital pes cavus	0.2	0	0	HPO
10558	SPTLC1	C1836527	Distal sensory impairment of all modalities	0.2	0	0	HPO
10558	SPTLC1	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
10558	SPTLC1	C1847584	Distal sensory impairment	0.2	0	0	HPO
10558	SPTLC1	C1849148	Decreased sensory nerve conduction velocities (NCV)	0.2	0	0	HPO
10558	SPTLC1	C1859606	Depletion of large myelinated fibers	0.2	0	0	HPO
10558	SPTLC1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
10558	SPTLC1	C4021578	Chronic axonal neuropathy	0.2	0	0	HPO
10558	SPTLC1	C4025737	Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)	0.2	0	0	HPO
10558	SPTLC1	C4025740	Autoamputation of foot	0.2	0	0	HPO
10559	SLC35A1	C0007642	Cellulitis	0.2	0	0	HPO
10559	SLC35A1	C0032285	Pneumonia	0.2	0	0	HPO
10559	SLC35A1	C0040034	Thrombocytopenia	0.2	0	0	HPO
10559	SLC35A1	C0151529	Bleeding time prolonged	0.2	0	0	HPO
10559	SLC35A1	C0162627	Skin Diseases, Bacterial	0.2	0	0	HPO
10559	SLC35A1	C0333864	Giant platelet (morphologic abnormality)	0.2	0	0	HPO
10559	SLC35A1	C0392386	Decreased platelet count	0.2	0	0	HPO
10559	SLC35A1	C0476273	Respiratory distress	0.2	0	0	HPO
10559	SLC35A1	C0700292	Hypoxemia	0.2	0	0	HPO
10559	SLC35A1	C0853697	Neutrophil count decreased	0.2	0	0	HPO
10559	SLC35A1	C0854107	Haemorrhage subcutaneous	0.2	0	0	HPO
10559	SLC35A1	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
10559	SLC35A1	C1848924	Infantile onset	0.2	0	0	HPO
10559	SLC35A1	C1970344	Congenital Disorder Of Glycosylation, Type IIF	0.4	0	0	CTD_human;ORPHANET
10559	SLC35A1	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
10559	SLC35A1	C4020846	Prone to bacterial infection	0.2	0	0	HPO
10559	SLC35A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10559	SLC35A1	C4023026	Abnormality of cells of the megakaryocyte lineage	0.2	0	0	HPO
10559	SLC35A1	C4023146	Abnormal platelet granules	0.2	0	0	HPO
10559	SLC35A1	C4280720	Intrapulmonary hemorrhage	0.2	0	0	HPO
1056	CEL	C0000737	Abdominal Pain	0.2	0	0	HPO
1056	CEL	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200274726784213	0	0	ORPHANET
1056	CEL	C0149521	Pancreatitis, Chronic	0.200549453568426	1	0	CTD_human
1056	CEL	C0342276	Maturity onset diabetes mellitus in young	0.201373633921065	0	0	HPO
1056	CEL	C1853297	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION	0.201098907136852	0	0	CTD_human
1056	CEL	C4021103	Abnormality of exocrine pancreas physiology	0.2	0	0	HPO
10560	SLC19A2	C0002888	Anemia, Megaloblastic	0.211755830211894	0	0	HPO
10560	SLC19A2	C0002896	Sideroblastic anemia	0.2	0	0	HPO
10560	SLC19A2	C0003123	Anorexia	0.2	0	0	HPO
10560	SLC19A2	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
10560	SLC19A2	C0011849	Diabetes Mellitus	0.201923087489492	0	0	HPO
10560	SLC19A2	C0011991	Diarrhea	0.2	0	0	HPO
10560	SLC19A2	C0018681	Headache	0.2	0	0	HPO
10560	SLC19A2	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10560	SLC19A2	C0018816	Heart Septal Defects	0.2	0	0	HPO
10560	SLC19A2	C0018817	Atrial Septal Defects	0.2	0	0	HPO
10560	SLC19A2	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10560	SLC19A2	C0019825	Hoarseness	0.2	0	0	HPO
10560	SLC19A2	C0023380	Lethargy	0.2	0	0	HPO
10560	SLC19A2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10560	SLC19A2	C0028738	Nystagmus	0.2	0	0	HPO
10560	SLC19A2	C0029124	Optic Atrophy	0.2	0	0	HPO
10560	SLC19A2	C0030232	Pallor	0.2	0	0	HPO
10560	SLC19A2	C0030554	Paresthesia	0.2	0	0	HPO
10560	SLC19A2	C0035304	Retinal Degeneration	0.2	0	0	HPO
10560	SLC19A2	C0035334	Retinitis Pigmentosa	0.200549453568426	0	0	HPO
10560	SLC19A2	C0037268	Skin Abnormalities	0.2	0	0	HPO
10560	SLC19A2	C0037274	Dermatologic disorders	0.2	0	0	HPO
10560	SLC19A2	C0040034	Thrombocytopenia	0.2	0	0	HPO
10560	SLC19A2	C0238621	Aminoaciduria	0.2	0	0	HPO
10560	SLC19A2	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
10560	SLC19A2	C0271972	Thiamine-responsive megaloblastic anemia	0.203296721410557	0	0	HPO
10560	SLC19A2	C0342287	Thiamine responsive megaloblastic anemia syndrome	0.685769262468475	2	6	CTD_human;ORPHANET;UNIPROT
10560	SLC19A2	C0349588	Short stature	0.2	0	0	HPO
10560	SLC19A2	C0392386	Decreased platelet count	0.2	0	0	HPO
10560	SLC19A2	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
10560	SLC19A2	C0730290	Cone dystrophy	0.2	0	0	HPO
10560	SLC19A2	C0855329	Electrocardiogram change	0.2	0	0	HPO
10560	SLC19A2	C1832603	EKG abnormalities	0.2	0	0	HPO
10560	SLC19A2	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
10560	SLC19A2	C3665386	Abnormal vision	0.2	0	0	HPO
10560	SLC19A2	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
10560	SLC19A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10560	SLC19A2	C4072827	Cone/cone-rod dystrophy	0.2	0	0	HPO
10562	OLFM4	C0014175	Endometriosis	0.200274726784213	1	0	CTD_human
10563	CXCL13	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10563	CXCL13	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
10564	ARFGEF2	C0014544	Epilepsy	0.2	0	0	HPO
10564	ARFGEF2	C0025362	Mental Retardation	0.2	0	0	HPO
10564	ARFGEF2	C0026827	Muscle hypotonia	0.2	0	0	HPO
10564	ARFGEF2	C0036572	Seizures	0.2	0	0	HPO
10564	ARFGEF2	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
10564	ARFGEF2	C0270790	Quadriparesis	0.2	0	0	HPO
10564	ARFGEF2	C0344482	Hypoplasia of corpus callosum	0.200274726784213	0	0	HPO
10564	ARFGEF2	C0423903	Low intelligence	0.2	0	0	HPO
10564	ARFGEF2	C0424688	Small head	0.2	0	0	HPO
10564	ARFGEF2	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
10564	ARFGEF2	C0684276	Hypsarrhythmia	0.2	0	0	HPO
10564	ARFGEF2	C0917816	Mental deficiency	0.2	0	0	HPO
10564	ARFGEF2	C1445953	Poor eye contact	0.2	0	0	HPO
10564	ARFGEF2	C1842563	Heterotopia, Periventricular, Autosomal Recessive	0.2	0	0	CTD_human
10564	ARFGEF2	C1843367	Poor school performance	0.2	0	0	HPO
10564	ARFGEF2	C1848924	Infantile onset	0.2	0	0	HPO
10564	ARFGEF2	C1849173	Periventricular neuronal heterotopia	0.2	0	0	HPO
10564	ARFGEF2	C1850456	Progressive microcephaly	0.2	0	0	HPO
10564	ARFGEF2	C1864897	Cognitive delay	0.2	0	0	HPO
10564	ARFGEF2	C1868720	Periventricular Nodular Heterotopia	0.202197814273705	0	0	ORPHANET
10564	ARFGEF2	C3714756	Intellectual Disability	0.2	0	0	HPO
10564	ARFGEF2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10564	ARFGEF2	C4020876	Dull intelligence	0.2	0	0	HPO
10564	ARFGEF2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10568	SLC34A2	C0007131	Non-Small Cell Lung Carcinoma	0.200549453568426	2	0	CTD_human
10568	SLC34A2	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
10568	SLC34A2	C0155912	Pulmonary Alveolar Microlithiasis	0.601648360705279	1	3	CTD_human;ORPHANET;UNIPROT
10568	SLC34A2	C1609528	Restrictive respiratory syndrome	0.2	0	0	HPO
10568	SLC34A2	C1849570	Progressive pulmonary function impairment	0.2	0	0	HPO
10568	SLC34A2	C1854494	Slow progression	0.2	0	0	HPO
10568	SLC34A2	C1864873	Testicular Microlithiasis	0.400274726784213	0	0	CTD_human;HPO
10568	SLC34A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10568	SLC34A2	C4025028	Intraalveolar nodular calcifications	0.2	0	0	HPO
10569	SLU7	C0043094	Weight Gain	0.2	1	0	CTD_human
10572	SIVA1	C0010246	Coxsackievirus Infections	0.2	1	0	CTD_human
10574	CCT7	C0019693	HIV Infections	0.2	1	0	CTD_human
10574	CCT7	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
10576	CCT2	C0029456	Osteoporosis	0.2	1	0	CTD_human
10577	NPC2	C0007384	Cataplexy	0.2	0	0	HPO
10577	NPC2	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10577	NPC2	C0011168	Deglutition Disorders	0.2	0	0	HPO
10577	NPC2	C0013362	Dysarthria	0.2	0	0	HPO
10577	NPC2	C0013421	Dystonia	0.2	0	0	HPO
10577	NPC2	C0014544	Epilepsy	0.2	0	0	HPO
10577	NPC2	C0019209	Hepatomegaly	0.2	0	0	HPO
10577	NPC2	C0022353	Neonatal Jaundice	0.2	0	0	HPO
10577	NPC2	C0025362	Mental Retardation	0.2	0	0	HPO
10577	NPC2	C0026827	Muscle hypotonia	0.2	0	0	HPO
10577	NPC2	C0026838	Muscle Spasticity	0.2	0	0	HPO
10577	NPC2	C0033975	Psychotic Disorders	0.2	0	0	HPO
10577	NPC2	C0036489	Sea-Blue Histiocyte Syndrome	0.2	0	0	HPO
10577	NPC2	C0036572	Seizures	0.2	0	0	HPO
10577	NPC2	C0038002	Splenomegaly	0.2	0	0	HPO
10577	NPC2	C0038271	Stereotyped Behavior	0.2	0	0	HPO
10577	NPC2	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
10577	NPC2	C0085400	Neurofibrillary degeneration (morphologic abnormality)	0.2	0	0	HPO
10577	NPC2	C0339652	Vertical gaze palsy	0.2	0	0	HPO
10577	NPC2	C0423903	Low intelligence	0.2	0	0	HPO
10577	NPC2	C0497327	Dementia	0.200274726784213	0	0	HPO
10577	NPC2	C0542223	Loss of speech	0.2	0	0	HPO
10577	NPC2	C0557874	Global developmental delay	0.2	0	0	HPO
10577	NPC2	C0917816	Mental deficiency	0.2	0	0	HPO
10577	NPC2	C1145670	Respiratory Failure	0.2	0	0	HPO
10577	NPC2	C1285291	Fetal ascites	0.2	0	0	HPO
10577	NPC2	C1843366	NIEMANN-PICK DISEASE, TYPE C2	0.481923087489492	4	17	CTD_human;UNIPROT
10577	NPC2	C1843367	Poor school performance	0.2	0	0	HPO
10577	NPC2	C1843369	Vertical supranuclear gaze palsy	0.2	0	0	HPO
10577	NPC2	C1843371	Low cholesterol esterification rates	0.2	0	0	HPO
10577	NPC2	C1843372	Abnormal cholesterol homeostasis	0.2	0	0	HPO
10577	NPC2	C1843373	Foam cells in visceral organs and CNS	0.2	0	0	HPO
10577	NPC2	C1856560	Large vacuolated foam cells ('NP cells') on bone marrow biopsy	0.2	0	0	HPO
10577	NPC2	C1859236	Prolonged neonatal jaundice	0.2	0	0	HPO
10577	NPC2	C1864897	Cognitive delay	0.2	0	0	HPO
10577	NPC2	C3714756	Intellectual Disability	0.2	0	0	HPO
10577	NPC2	C4020871	Dystonic disease	0.2	0	0	HPO
10577	NPC2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10577	NPC2	C4020876	Dull intelligence	0.2	0	0	HPO
10577	NPC2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10585	POMT1	C0003466	Anus, Imperforate	0.2	0	0	HPO
10585	POMT1	C0008924	Cleft Lip	0.2	0	0	HPO
10585	POMT1	C0008925	Cleft Palate	0.2	0	0	HPO
10585	POMT1	C0009363	Congenital ocular coloboma (disorder)	0.2	0	0	HPO
10585	POMT1	C0009917	Contracture	0.2	0	0	HPO
10585	POMT1	C0009918	Contracture of joint	0.2	0	0	HPO
10585	POMT1	C0010038	Corneal Opacity	0.2	0	0	HPO
10585	POMT1	C0010964	Dandy-Walker Syndrome	0.2	0	0	HPO
10585	POMT1	C0014067	Occipital Encephalocele	0.2	0	0	HPO
10585	POMT1	C0014544	Epilepsy	0.2	0	0	HPO
10585	POMT1	C0017601	Glaucoma	0.2	0	0	HPO
10585	POMT1	C0020255	Hydrocephalus	0.2	0	0	HPO
10585	POMT1	C0020302	Hydrophthalmos	0.2	0	0	HPO
10585	POMT1	C0020796	Profound Mental Retardation	0.2	0	0	HPO
10585	POMT1	C0024421	Macroglossia	0.2	0	0	HPO
10585	POMT1	C0025362	Mental Retardation	0.201098907136852	0	0	HPO
10585	POMT1	C0026010	Microphthalmos	0.2	0	0	HPO
10585	POMT1	C0026826	Muscle Hypertonia	0.2	0	0	HPO
10585	POMT1	C0026827	Muscle hypotonia	0.2	0	0	HPO
10585	POMT1	C0026848	Myopathy	0.2	0	0	HPO
10585	POMT1	C0026850	Muscular Dystrophy	0.20859471949093	0	0	HPO
10585	POMT1	C0027092	Myopia	0.2	0	0	HPO
10585	POMT1	C0029124	Optic Atrophy	0.2	0	0	HPO
10585	POMT1	C0035304	Retinal Degeneration	0.2	0	0	HPO
10585	POMT1	C0035305	Retinal Detachment	0.2	0	0	HPO
10585	POMT1	C0035313	Retinal Dysplasia	0.2	0	0	HPO
10585	POMT1	C0036572	Seizures	0.2	0	0	HPO
10585	POMT1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
10585	POMT1	C0037822	Speech Disorders	0.2	0	0	HPO
10585	POMT1	C0038379	Strabismus	0.2	0	0	HPO
10585	POMT1	C0042798	Low Vision	0.2	0	0	HPO
10585	POMT1	C0086543	Cataract	0.2	0	0	HPO
10585	POMT1	C0151576	Elevated creatine kinase	0.2	0	0	HPO
10585	POMT1	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
10585	POMT1	C0152423	Congenital small ears	0.2	0	0	HPO
10585	POMT1	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
10585	POMT1	C0239067	Difficulty walking up stairs	0.2	0	0	HPO
10585	POMT1	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
10585	POMT1	C0265221	Walker-Warburg congenital muscular dystrophy	0.606318716036901	4	14	CTD_human;ORPHANET;UNIPROT
10585	POMT1	C0266456	Meningoencephalocele	0.2	0	0	HPO
10585	POMT1	C0266464	Polymicrogyria	0.2	0	0	HPO
10585	POMT1	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
10585	POMT1	C0266483	Pachygyria	0.2	0	0	HPO
10585	POMT1	C0271215	Blindness, Legal	0.2	0	0	HPO
10585	POMT1	C0311394	Difficulty walking	0.2	0	0	HPO
10585	POMT1	C0332878	Congenital joint contractures	0.2	0	0	HPO
10585	POMT1	C0333068	Flexion contracture	0.2	0	0	HPO
10585	POMT1	C0338502	Hypoplasia of the optic nerve	0.2	0	0	HPO
10585	POMT1	C0338656	Impaired cognition	0.2	0	0	HPO
10585	POMT1	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
10585	POMT1	C0344530	Congenital keratoglobus	0.2	0	0	HPO
10585	POMT1	C0344559	Irido-corneo-trabecular dysgenesis (disorder)	0.2	0	0	HPO
10585	POMT1	C0376175	Bell Palsy	0.2	0	0	HPO
10585	POMT1	C0423221	Globe of eye large	0.2	0	0	HPO
10585	POMT1	C0423903	Low intelligence	0.2	0	0	HPO
10585	POMT1	C0424585	Tires quickly	0.2	0	0	HPO
10585	POMT1	C0424688	Small head	0.2	0	0	HPO
10585	POMT1	C0427055	Facial Paresis	0.2	0	0	HPO
10585	POMT1	C0431376	Cobblestone Lissencephaly	0.200274726784213	0	0	HPO
10585	POMT1	C0456909	Blind Vision	0.2	0	0	HPO
10585	POMT1	C0457133	Muscle eye brain disease	0.200549453568426	0	0	ORPHANET
10585	POMT1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
10585	POMT1	C0521694	Atrophic retina	0.2	0	0	HPO
10585	POMT1	C0521719	Clouding of corneal stroma	0.2	0	0	HPO
10585	POMT1	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
10585	POMT1	C0575081	Gait abnormality	0.2	0	0	HPO
10585	POMT1	C0683322	Mental impairment	0.2	0	0	HPO
10585	POMT1	C0694563	Excessive daytime somnolence	0.2	0	0	HPO
10585	POMT1	C0699743	Congenital muscular dystrophy (disorder)	0.201373633921065	0	0	HPO
10585	POMT1	C0746940	nonverbal	0.2	0	0	HPO
10585	POMT1	C0917816	Mental deficiency	0.2	0	0	HPO
10585	POMT1	C1167712	Corneal diameter increased	0.2	0	0	HPO
10585	POMT1	C1184923	Lumbar lordosis	0.2	0	0	HPO
10585	POMT1	C1398325	Absent auditory canals	0.2	0	0	HPO
10585	POMT1	C1510497	Lens Opacities	0.2	0	0	HPO
10585	POMT1	C1619700	RENAL ADYSPLASIA	0.2	0	0	HPO
10585	POMT1	C1836373	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	0.600274726784213	1	7	CTD_human;ORPHANET;UNIPROT
10585	POMT1	C1837098	Easy fatigability	0.2	0	0	HPO
10585	POMT1	C1837229	Muscular Dystrophy, Congenital, Type 1D	0.2	0	0	ORPHANET
10585	POMT1	C1837514	Phenotypic variability	0.2	0	0	HPO
10585	POMT1	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10585	POMT1	C1839630	Hypotonia, severe	0.2	0	0	HPO
10585	POMT1	C1840305	Absent external auditory canals	0.2	0	0	HPO
10585	POMT1	C1842688	Hypoplasia of the brainstem	0.2	0	0	HPO
10585	POMT1	C1843367	Poor school performance	0.2	0	0	HPO
10585	POMT1	C1847759	MUSCULAR DYSTROPHY, CONGENITAL, 1C	0.2	0	0	ORPHANET
10585	POMT1	C1848924	Infantile onset	0.2	0	0	HPO
10585	POMT1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
10585	POMT1	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10585	POMT1	C1852534	Hypoplastic male genitalia	0.2	0	0	HPO
10585	POMT1	C1853377	Enlarged cisterna magna	0.2	0	0	HPO
10585	POMT1	C1854301	Motor delay	0.2	0	0	HPO
10585	POMT1	C1854494	Slow progression	0.2	0	0	HPO
10585	POMT1	C1854882	Absent speech	0.2	0	0	HPO
10585	POMT1	C1857079	Atretic auditory canal	0.2	0	0	HPO
10585	POMT1	C1857353	Posterior fossa cyst	0.2	0	0	HPO
10585	POMT1	C1858025	Spinal rigidity	0.2	0	0	HPO
10585	POMT1	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
10585	POMT1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
10585	POMT1	C1861403	Variable expressivity	0.2	0	0	HPO
10585	POMT1	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
10585	POMT1	C1864897	Cognitive delay	0.2	0	0	HPO
10585	POMT1	C1866190	Atresia of the external auditory canal	0.2	0	0	HPO
10585	POMT1	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10585	POMT1	C1866862	Highly variable severity	0.2	0	0	HPO
10585	POMT1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10585	POMT1	C3150415	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	0.6	4	7	CTD_human;ORPHANET;UNIPROT
10585	POMT1	C3150416	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	0.2	0	0	ORPHANET
10585	POMT1	C3161330	Profound intellectual disabilities	0.2	0	0	HPO
10585	POMT1	C3278322	Cerebellar dysplasia	0.2	0	0	HPO
10585	POMT1	C3536714	Renal dysplasia	0.2	0	0	HPO
10585	POMT1	C3665347	Visual Impairment	0.2	0	0	HPO
10585	POMT1	C3714756	Intellectual Disability	0.203831819601666	0	0	HPO
10585	POMT1	C3809221	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	0.2	0	0	ORPHANET
10585	POMT1	C4020874	No development of motor milestones	0.2	0	0	HPO
10585	POMT1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10585	POMT1	C4020876	Dull intelligence	0.2	0	0	HPO
10585	POMT1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10585	POMT1	C4021776	Abnormality of the voice	0.2	0	0	HPO
10585	POMT1	C4024970	Thick cerebral cortex	0.2	0	0	HPO
10585	POMT1	C4280625	Decreased size of eyeball	0.2	0	0	HPO
10585	POMT1	C4280808	Abnormally small eyeball	0.2	0	0	HPO
10587	TXNRD2	C0007193	Cardiomyopathy, Dilated	0.200274726784213	0	0	HPO
10587	TXNRD2	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10587	TXNRD2	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
10587	TXNRD2	C0339573	Glaucoma, Primary Open Angle	0.200274726784213	1	0	CTD_human
10587	TXNRD2	C1859974	GLUCOCORTICOID DEFICIENCY 1	0.2	0	0	ORPHANET
10587	TXNRD2	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
10587	TXNRD2	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
10588	MTHFS	C0008924	Cleft Lip	0.202407028523288	1	0	CTD_human
10588	MTHFS	C0008925	Cleft Palate	0.202407028523288	1	0	CTD_human
10589	DRAP1	C0025202	melanoma	0.2	1	0	CTD_human
10592	SMC2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10594	PRPF8	C0017601	Glaucoma	0.2	0	0	HPO
10594	PRPF8	C0018777	Conductive hearing loss	0.2	0	0	HPO
10594	PRPF8	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10594	PRPF8	C0019693	HIV Infections	0.2	1	0	CTD_human
10594	PRPF8	C0020459	Hyperinsulinism	0.2	0	0	HPO
10594	PRPF8	C0020619	Hypogonadism	0.2	0	0	HPO
10594	PRPF8	C0022578	Keratoconus	0.2	0	0	HPO
10594	PRPF8	C0025362	Mental Retardation	0.2	0	0	HPO
10594	PRPF8	C0028077	Night Blindness	0.2	0	0	HPO
10594	PRPF8	C0028738	Nystagmus	0.2	0	0	HPO
10594	PRPF8	C0028754	Obesity	0.2	0	0	HPO
10594	PRPF8	C0029089	Ophthalmoplegia	0.2	0	0	HPO
10594	PRPF8	C0029124	Optic Atrophy	0.2	0	0	HPO
10594	PRPF8	C0035304	Retinal Degeneration	0.2	0	0	HPO
10594	PRPF8	C0035334	Retinitis Pigmentosa	0.414228371269812	0	0	HPO;ORPHANET
10594	PRPF8	C0085636	Photophobia	0.2	0	0	HPO
10594	PRPF8	C0086543	Cataract	0.2	0	0	HPO
10594	PRPF8	C0151891	Retinal depigmentation	0.2	0	0	HPO
10594	PRPF8	C0235095	Visual field constriction	0.2	0	0	HPO
10594	PRPF8	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
10594	PRPF8	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10594	PRPF8	C0271215	Blindness, Legal	0.2	0	0	HPO
10594	PRPF8	C0423903	Low intelligence	0.2	0	0	HPO
10594	PRPF8	C0456909	Blind Vision	0.2	0	0	HPO
10594	PRPF8	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10594	PRPF8	C0917816	Mental deficiency	0.2	0	0	HPO
10594	PRPF8	C1510497	Lens Opacities	0.2	0	0	HPO
10594	PRPF8	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10594	PRPF8	C1838702	Retinitis Pigmentosa 13	0.480549453568426	2	5	CTD_human;UNIPROT
10594	PRPF8	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10594	PRPF8	C1840077	Anteverted nostril	0.2	0	0	HPO
10594	PRPF8	C1843367	Poor school performance	0.2	0	0	HPO
10594	PRPF8	C1849367	Nasal bridge wide	0.2	0	0	HPO
10594	PRPF8	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10594	PRPF8	C3714756	Intellectual Disability	0.2	0	0	HPO
10594	PRPF8	C4020876	Dull intelligence	0.2	0	0	HPO
10594	PRPF8	C4020885	Difficulties with night vision	0.2	0	0	HPO
10594	PRPF8	C4020887	Photodysphoria	0.2	0	0	HPO
10594	PRPF8	C4021786	Atypical scarring of skin	0.2	0	0	HPO
10594	PRPF8	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
10594	PRPF8	C4024818	Night blindness, progressive	0.2	0	0	HPO
10599	SLCO1B1	C0022346	Icterus	0.2	0	0	HPO
10599	SLCO1B1	C0026848	Myopathy	0.214964592685143	5	0	CTD_human
10599	SLCO1B1	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
10599	SLCO1B1	C0220991	Rotor Syndrome	0.200824180352639	0	0	ORPHANET
10599	SLCO1B1	C0268307	Conjugated hyperbilirubinemia	0.200274726784213	0	0	HPO
10599	SLCO1B1	C1260926	Abnormal pigmentation	0.2	0	0	HPO
10599	SLCO1B1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10599	SLCO1B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10599	SLCO1B1	C4021790	Abnormality of the skeletal system	0.2	0	0	HPO
10602	CDC42EP3	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10610	ST6GALNAC2	C0017661	IGA Glomerulonephritis	0.205638237399215	1	0	CTD_human
10611	PDLIM5	C0005586	Bipolar Disorder	0.22621235672894	5	0	PSYGENET
10611	PDLIM5	C0036341	Schizophrenia	0.214609997988983	4	0	PSYGENET
10611	PDLIM5	C0041696	Unipolar Depression	0.200549453568426	4	0	PSYGENET
10611	PDLIM5	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10611	PDLIM5	C0221765	Chronic schizophrenia	0.200274726784213	1	0	PSYGENET
10611	PDLIM5	C1269683	Major Depressive Disorder	0.200824180352639	4	0	PSYGENET
10614	HEXIM1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10615	SPAG5	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
10616	RBCK1	C0007193	Cardiomyopathy, Dilated	0.2	0	0	HPO
10616	RBCK1	C0018800	Cardiomegaly	0.2	1	0	CTD_human
10616	RBCK1	C0151576	Elevated creatine kinase	0.2	0	0	HPO
10616	RBCK1	C0151686	Growth retardation	0.2	0	0	HPO
10616	RBCK1	C0221629	Proximal muscle weakness	0.2	0	0	HPO
10616	RBCK1	C0231246	Failure to gain weight	0.2	0	0	HPO
10616	RBCK1	C0231528	Myalgia	0.2	0	0	HPO
10616	RBCK1	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
10616	RBCK1	C0456070	Growth delay	0.2	0	0	HPO
10616	RBCK1	C0878787	Growth failure	0.2	0	0	HPO
10616	RBCK1	C1837385	Poor growth	0.2	0	0	HPO
10616	RBCK1	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
10616	RBCK1	C1861403	Variable expressivity	0.2	0	0	HPO
10616	RBCK1	C1864985	Progressive disorder	0.2	0	0	HPO
10616	RBCK1	C1866862	Highly variable severity	0.2	0	0	HPO
10616	RBCK1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10616	RBCK1	C3552463	Very poor growth	0.2	0	0	HPO
10616	RBCK1	C4014605	POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY	0.4	1	8	ORPHANET;UNIPROT
10616	RBCK1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10617	STAMBP	C0005745	Blepharoptosis	0.2	0	0	HPO
10617	STAMBP	C0006111	Brain Diseases	0.2	1	0	CTD_human
10617	STAMBP	C0008073	Developmental Disabilities	0.2	1	0	CTD_human
10617	STAMBP	C0008925	Cleft Palate	0.2	0	0	HPO
10617	STAMBP	C0011053	Deafness	0.2	0	0	HPO
10617	STAMBP	C0014544	Epilepsy	0.4	1	0	CTD_human;HPO
10617	STAMBP	C0016522	Foramen Ovale, Patent	0.2	0	0	HPO
10617	STAMBP	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10617	STAMBP	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10617	STAMBP	C0020534	Orbital separation excessive	0.2	0	0	HPO
10617	STAMBP	C0024032	Low Birth Weights	0.2	0	0	HPO
10617	STAMBP	C0025958	Microcephaly	0.2	1	0	CTD_human
10617	STAMBP	C0026827	Muscle hypotonia	0.2	0	0	HPO
10617	STAMBP	C0027066	Myoclonus	0.2	0	0	HPO
10617	STAMBP	C0029124	Optic Atrophy	0.2	0	0	HPO
10617	STAMBP	C0036572	Seizures	0.2	0	0	HPO
10617	STAMBP	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10617	STAMBP	C0162770	Right Ventricular Hypertrophy	0.2	0	0	HPO
10617	STAMBP	C0221357	Brachydactyly	0.2	0	0	HPO
10617	STAMBP	C0231246	Failure to gain weight	0.2	0	0	HPO
10617	STAMBP	C0235946	Cerebral atrophy	0.2	0	0	HPO
10617	STAMBP	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
10617	STAMBP	C0239234	Low set ears	0.2	0	0	HPO
10617	STAMBP	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
10617	STAMBP	C0263523	Micronychia (disorder)	0.2	0	0	HPO
10617	STAMBP	C0265610	Congenital clinodactyly	0.2	0	0	HPO
10617	STAMBP	C0339789	Congenital deafness	0.2	0	0	HPO
10617	STAMBP	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
10617	STAMBP	C0426414	Small nose	0.2	0	0	HPO
10617	STAMBP	C0426421	Wide nose	0.2	0	0	HPO
10617	STAMBP	C0575059	Spastic tetraparesis	0.2	0	0	HPO
10617	STAMBP	C1277241	Delayed myelination	0.2	0	0	HPO
10617	STAMBP	C1384666	hearing impairment	0.2	0	0	HPO
10617	STAMBP	C1837397	Global developmental delay, severe	0.2	0	0	HPO
10617	STAMBP	C1839829	Short distal phalanges	0.2	0	0	HPO
10617	STAMBP	C1842180	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	0.2	1	0	CTD_human
10617	STAMBP	C1850456	Progressive microcephaly	0.2	0	0	HPO
10617	STAMBP	C1854114	Short nose	0.2	0	0	HPO
10617	STAMBP	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
10617	STAMBP	C1857679	Sloping forehead	0.2	0	0	HPO
10617	STAMBP	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10617	STAMBP	C2752013	Prenatal onset	0.2	0	0	HPO
10617	STAMBP	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10617	STAMBP	C3280296	Microcephaly-capillary malformation syndrome	0.400274726784213	1	11	ORPHANET;UNIPROT
10617	STAMBP	C3280303	Abnormal hair whorls	0.2	0	0	HPO
10617	STAMBP	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10617	STAMBP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10617	STAMBP	C4082243	Maxillary retrognathia	0.2	0	0	HPO
10617	STAMBP	C4280304	Curvature of digit	0.2	0	0	HPO
10617	STAMBP	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
10617	STAMBP	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
10617	STAMBP	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
10617	STAMBP	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
10618	TGOLN2	C0040128	Thyroid Diseases	0.2	1	0	CTD_human
10618	TGOLN2	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1062	CENPE	C0006625	Cachexia	0.2	0	0	HPO
1062	CENPE	C0010278	Craniosynostosis	0.2	0	0	HPO
1062	CENPE	C0014544	Epilepsy	0.2	0	0	HPO
1062	CENPE	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1062	CENPE	C0017601	Glaucoma	0.2	0	0	HPO
1062	CENPE	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1062	CENPE	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1062	CENPE	C0025362	Mental Retardation	0.2	0	0	HPO
1062	CENPE	C0025990	Micrognathism	0.2	0	0	HPO
1062	CENPE	C0036572	Seizures	0.2	0	0	HPO
1062	CENPE	C0235942	Skull malformation	0.2	0	0	HPO
1062	CENPE	C0239479	Round face	0.2	0	0	HPO
1062	CENPE	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1062	CENPE	C0240538	Convex nasal ridge	0.2	0	0	HPO
1062	CENPE	C0265202	Seckel syndrome	0.200274726784213	0	0	ORPHANET
1062	CENPE	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
1062	CENPE	C0338656	Impaired cognition	0.2	0	0	HPO
1062	CENPE	C0349588	Short stature	0.2	0	0	HPO
1062	CENPE	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1062	CENPE	C0423903	Low intelligence	0.2	0	0	HPO
1062	CENPE	C0424688	Small head	0.2	0	0	HPO
1062	CENPE	C0426415	Large nose	0.2	0	0	HPO
1062	CENPE	C0431368	Partial agenesis of corpus callosum	0.2	0	0	HPO
1062	CENPE	C0541764	Delayed bone age	0.2	0	0	HPO
1062	CENPE	C0575802	Small hand	0.2	0	0	HPO
1062	CENPE	C0683322	Mental impairment	0.2	0	0	HPO
1062	CENPE	C0917816	Mental deficiency	0.2	0	0	HPO
1062	CENPE	C1386048	Intrauterine retardation	0.2	0	0	HPO
1062	CENPE	C1400105	Hypertrophy of nose	0.2	0	0	HPO
1062	CENPE	C1837463	Narrow face	0.2	0	0	HPO
1062	CENPE	C1840069	Sandal gap	0.2	0	0	HPO
1062	CENPE	C1843367	Poor school performance	0.2	0	0	HPO
1062	CENPE	C1848673	Hypoplastic feet	0.2	0	0	HPO
1062	CENPE	C1849121	Thin face	0.2	0	0	HPO
1062	CENPE	C1849364	Absent earlobe	0.2	0	0	HPO
1062	CENPE	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1062	CENPE	C1856468	Round, full face	0.2	0	0	HPO
1062	CENPE	C1857042	Sparse scalp hair	0.2	0	0	HPO
1062	CENPE	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1062	CENPE	C1857278	Partial or complete agenesis of corpus callosum	0.2	0	0	HPO
1062	CENPE	C1857656	Precociously senile appearance	0.2	0	0	HPO
1062	CENPE	C1857679	Sloping forehead	0.2	0	0	HPO
1062	CENPE	C1865037	Cone-shaped epiphyses	0.2	0	0	HPO
1062	CENPE	C2229182	Psychomotor retardation, mild	0.2	0	0	HPO
1062	CENPE	C2749675	Cortical gyral simplification	0.2	0	0	HPO
1062	CENPE	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1062	CENPE	C3714756	Intellectual Disability	0.2	0	0	HPO
1062	CENPE	C4012968	Mild global developmental delay	0.2	0	0	HPO
1062	CENPE	C4015080	MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE	0.2	1	2	UNIPROT
1062	CENPE	C4020876	Dull intelligence	0.2	0	0	HPO
1062	CENPE	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1062	CENPE	C4021800	Enamel abnormalities	0.2	0	0	HPO
1062	CENPE	C4024202	Reduced number of teeth	0.2	0	0	HPO
1062	CENPE	C4083050	Agenesis of teeth	0.2	0	0	HPO
1062	CENPE	C4280262	Dystrophic tooth enamel	0.2	0	0	HPO
1062	CENPE	C4280538	Curvature of little finger	0.2	0	0	HPO
1062	CENPE	C4280615	Defective tooth enamel	0.2	0	0	HPO
1062	CENPE	C4280629	Hyperplasia of nose	0.2	0	0	HPO
10625	IVNS1ABP	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10628	TXNIP	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
10628	TXNIP	C0011881	Diabetic Nephropathy	0.201373633921065	1	0	CTD_human
10628	TXNIP	C0014175	Endometriosis	0.200274726784213	1	0	CTD_human
10628	TXNIP	C0079744	Diffuse Large B-Cell Lymphoma	0.2	1	0	CTD_human
1063	CENPF	C0008780	Ciliary Motility Disorders	0.2	0	0	HPO
1063	CENPF	C0008925	Cleft Palate	0.2	0	0	HPO
1063	CENPF	C0020255	Hydrocephalus	0.2	0	0	HPO
1063	CENPF	C0020534	Orbital separation excessive	0.2	0	0	HPO
1063	CENPF	C0025990	Micrognathism	0.2	0	0	HPO
1063	CENPF	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1063	CENPF	C0239234	Low set ears	0.2	0	0	HPO
1063	CENPF	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1063	CENPF	C0266174	Duodenal atresia	0.2	0	0	HPO
1063	CENPF	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
1063	CENPF	C0424688	Small head	0.2	0	0	HPO
1063	CENPF	C1458155	Mammary Neoplasms	0.202732912464814	1	0	CTD_human
1063	CENPF	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1063	CENPF	C1849367	Nasal bridge wide	0.2	0	0	HPO
1063	CENPF	C1854113	Prominent nasal bridge	0.2	0	0	HPO
1063	CENPF	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1063	CENPF	C1857479	Short columella	0.2	0	0	HPO
1063	CENPF	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1063	CENPF	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1063	CENPF	C4230640	Convex nasal bridge	0.2	0	0	HPO
1063	CENPF	C4280585	Hypoplasia of columella	0.2	0	0	HPO
10630	PDPN	C0031149	Peritoneal Neoplasms	0.2	1	0	CTD_human
10630	PDPN	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
10631	POSTN	C0006287	Bronchopulmonary Dysplasia	0.2	1	0	CTD_human
10631	POSTN	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10631	POSTN	C0013182	Drug Allergy	0.2	1	0	CTD_human
10631	POSTN	C0013264	Muscular Dystrophy, Duchenne	0.2	1	0	CTD_human
10631	POSTN	C1319853	Asthma, Aspirin-Induced	0.2	1	0	CTD_human
10634	GAS2L1	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
10634	GAS2L1	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
10641	NPRL2	C0036341	Schizophrenia	0.2	1	0	CTD_human
10643	IGF2BP3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10643	IGF2BP3	C0031149	Peritoneal Neoplasms	0.2	1	0	CTD_human
10643	IGF2BP3	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
10644	IGF2BP2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.292087978505376	0	0	CTD_human
10644	IGF2BP2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10644	IGF2BP2	C0221765	Chronic schizophrenia	0.200274726784213	1	0	PSYGENET
10645	CAMKK2	C0036341	Schizophrenia	0.200824180352639	1	0	PSYGENET
10653	SPINT2	C0000731	Abdomen distended	0.2	0	0	HPO
10653	SPINT2	C0008297	Choanal Atresia	0.200274726784213	0	0	HPO
10653	SPINT2	C0020224	Polyhydramnios	0.2	0	0	HPO
10653	SPINT2	C0020534	Orbital separation excessive	0.2	0	0	HPO
10653	SPINT2	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
10653	SPINT2	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
10653	SPINT2	C0027794	Neural Tube Defects	0.2	1	0	CTD_human
10653	SPINT2	C0032045	Placenta Disorders	0.2	1	0	CTD_human
10653	SPINT2	C0267557	Secretory diarrhea	0.2	0	0	HPO
10653	SPINT2	C0267663	Congenital secretory diarrhea, sodium type (disorder)	0.600824180352639	1	1	CTD_human;ORPHANET;UNIPROT
10653	SPINT2	C0392163	Corneal erosion	0.2	0	0	HPO
10653	SPINT2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10653	SPINT2	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
10654	PMVK	C0007114	Malignant neoplasm of skin	0.2	0	0	HPO
10654	PMVK	C0033774	Pruritus	0.2	0	0	HPO
10654	PMVK	C0037286	Skin Neoplasms	0.2	0	0	HPO
10654	PMVK	C0349506	Photosensitivity of skin	0.2	0	0	HPO
10654	PMVK	C0376628	Chromosome Breakage	0.2	0	0	HPO
10654	PMVK	C0870082	Hyperkeratosis	0.2	0	0	HPO
10654	PMVK	C0949506	Porokeratosis of Mibelli	0.4	0	0	HPO;ORPHANET
10654	PMVK	C1859424	Increased chromosomal breakage	0.2	0	0	HPO
10654	PMVK	C1969363	Onset in middle age	0.2	0	0	HPO
10654	PMVK	C4024737	Aplasia/Hypoplasia of the skin	0.2	0	0	HPO
10659	CELF2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10659	CELF2	C0036341	Schizophrenia	0.2	1	0	CTD_human
10659	CELF2	C0038325	Stevens-Johnson Syndrome	0.2	1	0	CTD_human
1066	CES1	C0020443	Hypercholesterolemia	0.2	1	0	CTD_human
1066	CES1	C0024121	Lung Neoplasms	0.2	2	0	CTD_human
1066	CES1	C0025521	Inborn Errors of Metabolism	0.2	1	0	CTD_human
1066	CES1	C0027412	Opioid-Related Disorders	0.2	1	0	CTD_human
1066	CES1	C0028754	Obesity	0.201098907136852	1	0	CTD_human
1066	CES1	C0236736	Cocaine-Related Disorders	0.2	2	0	CTD_human
10661	KLF1	C0002871	Anemia	0.201373633921065	0	0	HPO
10661	KLF1	C0002876	Congenital dyserythropoietic anemia	0.201098907136852	0	0	CTD_human
10661	KLF1	C0014800	Erythroid hyperplasia	0.2	0	0	HPO
10661	KLF1	C0018939	Hematological Disease	0.200274726784213	1	0	CTD_human
10661	KLF1	C0019025	Hemoglobin F Disease	0.200549453568426	0	0	ORPHANET
10661	KLF1	C0019209	Hepatomegaly	0.2	0	0	HPO
10661	KLF1	C0020305	Hydrops Fetalis	0.200274726784213	0	0	HPO
10661	KLF1	C0030232	Pallor	0.2	0	0	HPO
10661	KLF1	C0038002	Splenomegaly	0.2	0	0	HPO
10661	KLF1	C0162119	Hemoglobin low	0.2	0	0	HPO
10661	KLF1	C0206160	Reticulocytosis	0.2	0	0	HPO
10661	KLF1	C0239941	Foetal haemoglobin increased	0.2	0	0	HPO
10661	KLF1	C0311468	Increased bilirubin level (finding)	0.2	0	0	HPO
10661	KLF1	C0349588	Short stature	0.2	0	0	HPO
10661	KLF1	C0392708	Ineffective erythropoiesis	0.2	0	0	HPO
10661	KLF1	C0678199	Dyserythropoietic anemia	0.2	0	0	HPO
10661	KLF1	C1838111	Bone marrow biopsy shows erythroid hyperplasia	0.2	0	0	HPO
10661	KLF1	C2752013	Prenatal onset	0.2	0	0	HPO
10661	KLF1	C3150926	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV	0.400274726784213	1	3	ORPHANET;UNIPROT
10661	KLF1	C3552917	Bone marrow smear shows erythroid hyperplasia	0.2	0	0	HPO
10661	KLF1	C4023619	Absence of Lutheran antigen on erythrocytes	0.2	0	0	HPO
10661	KLF1	C4025630	Abnormal bone structure	0.2	0	0	HPO
10664	CTCF	C0010417	Cryptorchidism	0.2	0	0	HPO
10664	CTCF	C0020490	Hyperopia	0.2	0	0	HPO
10664	CTCF	C0025362	Mental Retardation	0.2	0	0	HPO
10664	CTCF	C0026827	Muscle hypotonia	0.2	0	0	HPO
10664	CTCF	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10664	CTCF	C0038379	Strabismus	0.2	0	0	HPO
10664	CTCF	C0040427	Tooth Abnormalities	0.2	0	0	HPO
10664	CTCF	C0079773	Lymphoma, T-Cell, Cutaneous	0.2	1	0	CTD_human
10664	CTCF	C0232466	Feeding difficulties	0.2	0	0	HPO
10664	CTCF	C0262444	Dental abnormalities	0.2	0	0	HPO
10664	CTCF	C0349588	Short stature	0.2	0	0	HPO
10664	CTCF	C0423903	Low intelligence	0.2	0	0	HPO
10664	CTCF	C0424688	Small head	0.2	0	0	HPO
10664	CTCF	C0557874	Global developmental delay	0.2	0	0	HPO
10664	CTCF	C0578038	Thin lips	0.2	0	0	HPO
10664	CTCF	C0917816	Mental deficiency	0.2	0	0	HPO
10664	CTCF	C1843367	Poor school performance	0.2	0	0	HPO
10664	CTCF	C1860789	Leukemia, Megakaryoblastic, of Down Syndrome	0.2	1	0	CTD_human
10664	CTCF	C1864897	Cognitive delay	0.2	0	0	HPO
10664	CTCF	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
10664	CTCF	C3809686	MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	0.4	1	3	ORPHANET;UNIPROT
10664	CTCF	C4020875	Mental and motor retardation	0.2	0	0	HPO
10664	CTCF	C4020876	Dull intelligence	0.2	0	0	HPO
10666	CD226	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
10666	CD226	C0009404	Colorectal Neoplasms	0.202732912464814	1	0	CTD_human
10666	CD226	C0014175	Endometriosis	0.2	1	0	CTD_human
10666	CD226	C0024141	Lupus Erythematosus, Systemic	0.20350593566014	1	0	CTD_human
10667	FARS2	C0001125	Acidosis, Lactic	0.2	0	0	HPO
10667	FARS2	C0014544	Epilepsy	0.200549453568426	0	0	HPO
10667	FARS2	C0017639	Gliosis	0.2	0	0	HPO
10667	FARS2	C0026827	Muscle hypotonia	0.2	0	0	HPO
10667	FARS2	C0027066	Myoclonus	0.2	0	0	HPO
10667	FARS2	C0036572	Seizures	0.2	0	0	HPO
10667	FARS2	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
10667	FARS2	C0151686	Growth retardation	0.2	0	0	HPO
10667	FARS2	C0154671	Degenerative brain disorder	0.2	0	0	HPO
10667	FARS2	C0232466	Feeding difficulties	0.2	0	0	HPO
10667	FARS2	C0235946	Cerebral atrophy	0.2	0	0	HPO
10667	FARS2	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10667	FARS2	C0347959	Lactic acidemia	0.2	0	0	HPO
10667	FARS2	C0424688	Small head	0.2	0	0	HPO
10667	FARS2	C0456070	Growth delay	0.2	0	0	HPO
10667	FARS2	C0557874	Global developmental delay	0.2	0	0	HPO
10667	FARS2	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10667	FARS2	C0878787	Growth failure	0.2	0	0	HPO
10667	FARS2	C1836440	Increased serum lactate	0.2	0	0	HPO
10667	FARS2	C1837385	Poor growth	0.2	0	0	HPO
10667	FARS2	C1844947	Death in early childhood	0.2	0	0	HPO
10667	FARS2	C1858430	Death in infancy	0.2	0	0	HPO
10667	FARS2	C1864897	Cognitive delay	0.2	0	0	HPO
10667	FARS2	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10667	FARS2	C3552463	Very poor growth	0.2	0	0	HPO
10667	FARS2	C3554168	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14	0.400274726784213	2	4	ORPHANET;UNIPROT
10667	FARS2	C4020860	Supratentorial atrophy	0.2	0	0	HPO
10667	FARS2	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10667	FARS2	C4020875	Mental and motor retardation	0.2	0	0	HPO
10667	FARS2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10672	GNA13	C0006413	Burkitt Lymphoma	0.2	1	0	CTD_human
10673	TNFSF13B	C0525045	Mood Disorders	0.2	1	0	PSYGENET
10675	CSPG5	C0036341	Schizophrenia	0.202681755307501	2	0	PSYGENET
10678	B3GNT2	C0003873	Rheumatoid Arthritis	0.200824180352639	1	0	CTD_human
10678	B3GNT2	C0018213	Graves Disease	0.200549453568426	1	0	CTD_human
10678	B3GNT2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1068	CETN1	C0036341	Schizophrenia	0.200549453568426	2	0	PSYGENET
10683	DLL3	C0000768	Congenital Abnormality	0.200824180352639	1	0	CTD_human
10683	DLL3	C0004114	Astrocytoma	0.2	1	0	CTD_human
10683	DLL3	C0013336	Dwarfism	0.2	0	0	HPO
10683	DLL3	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10683	DLL3	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10683	DLL3	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
10683	DLL3	C0029422	Osteochondrodysplasias	0.200274726784213	1	0	CTD_human
10683	DLL3	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
10683	DLL3	C0036439	Scoliosis, unspecified	0.200274726784213	1	0	CTD_human
10683	DLL3	C0037932	Curvature of spine	0.2	0	0	HPO
10683	DLL3	C0265343	Jarcho-Levin syndrome	0.681923087489492	1	8	CTD_human;ORPHANET;UNIPROT
10683	DLL3	C0265677	Congenital hemivertebra	0.2	0	0	HPO
10683	DLL3	C0349588	Short stature	0.2	0	0	HPO
10683	DLL3	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10683	DLL3	C0426789	Short thorax	0.2	0	0	HPO
10683	DLL3	C0432163	Defect of vertebral segmentation	0.2	0	0	HPO
10683	DLL3	C0521525	Short neck	0.2	0	0	HPO
10683	DLL3	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
10683	DLL3	C1386048	Intrauterine retardation	0.2	0	0	HPO
10683	DLL3	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
10683	DLL3	C1844749	Rib fusion	0.2	0	0	HPO
10683	DLL3	C1844753	Block vertebrae	0.2	0	0	HPO
10683	DLL3	C1844947	Death in early childhood	0.2	0	0	HPO
10683	DLL3	C1845112	Hyperkyphosis	0.2	0	0	HPO
10683	DLL3	C1846435	Short-trunked dwarfism	0.2	0	0	HPO
10683	DLL3	C1858430	Death in infancy	0.2	0	0	HPO
10683	DLL3	C1864794	Abnormal odontoid peg	0.2	0	0	HPO
10683	DLL3	C1968999	Rib segmentation abnormalities	0.2	0	0	HPO
10683	DLL3	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
10683	DLL3	C4020855	Respiratory function loss	0.2	0	0	HPO
10683	DLL3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10683	DLL3	C4023616	Abnormality of immune system physiology	0.2	0	0	HPO
10683	DLL3	C4025249	Abnormality of the intervertebral disk	0.2	0	0	HPO
10686	CLDN16	C0000737	Abdominal Pain	0.2	0	0	HPO
10686	CLDN16	C0001126	Renal tubular acidosis	0.2	0	0	HPO
10686	CLDN16	C0004106	Astigmatism	0.2	0	0	HPO
10686	CLDN16	C0014544	Epilepsy	0.2	0	0	HPO
10686	CLDN16	C0018965	Hematuria	0.2	0	0	HPO
10686	CLDN16	C0020438	Hypercalciuria	0.208227448149076	0	0	HPO
10686	CLDN16	C0020490	Hyperopia	0.2	0	0	HPO
10686	CLDN16	C0027092	Myopia	0.2	0	0	HPO
10686	CLDN16	C0027709	Nephrocalcinosis	0.208227448149076	0	0	HPO
10686	CLDN16	C0028738	Nystagmus	0.2	0	0	HPO
10686	CLDN16	C0032617	Polyuria	0.2	0	0	HPO
10686	CLDN16	C0036572	Seizures	0.2	0	0	HPO
10686	CLDN16	C0038379	Strabismus	0.2	0	0	HPO
10686	CLDN16	C0039621	Tetany	0.2	0	0	HPO
10686	CLDN16	C0085602	Polydipsia	0.2	0	0	HPO
10686	CLDN16	C0151723	Hypomagnesemia	0.2	0	0	HPO
10686	CLDN16	C0231246	Failure to gain weight	0.2	0	0	HPO
10686	CLDN16	C0262655	Recurrent urinary tract infection	0.2	0	0	HPO
10686	CLDN16	C0268448	Primary hypomagnesemia (disorder)	0.68	3	15	CTD_human;ORPHANET;UNIPROT
10686	CLDN16	C0392525	Nephrolithiasis	0.200549453568426	0	0	HPO
10686	CLDN16	C0740394	Hyperuricemia	0.2	0	0	HPO
10686	CLDN16	C0748318	Progressive renal failure	0.2	0	0	HPO
10686	CLDN16	C1561643	Chronic Kidney Diseases	0.200274726784213	0	0	HPO
10686	CLDN16	C1835171	Hypomagnesemia 2, renal	0.200549453568426	0	0	HPO
10686	CLDN16	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10686	CLDN16	C2673441	Renal calcium wasting	0.2	0	0	HPO
10686	CLDN16	C2673443	Hypermagnesiuria	0.2	0	0	HPO
10686	CLDN16	C2673444	Hypocitraturia	0.2	0	0	HPO
10686	CLDN16	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10686	CLDN16	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10686	CLDN16	C4280679	Increased calcium level in kidney	0.2	0	0	HPO
10693	CCT6B	C0006413	Burkitt Lymphoma	0.2	1	0	CTD_human
10699	CORIN	C0013537	Eclampsia	0.200549453568426	0	0	HPO
10699	CORIN	C0032914	Pre-Eclampsia	0.4	0	0	HPO;ORPHANET
10699	CORIN	C3281288	PREECLAMPSIA/ECLAMPSIA 5	0.2	1	2	UNIPROT
107	ADCY1	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
107	ADCY1	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
107	ADCY1	C0424295	Hyperactive behavior	0.2	1	0	CTD_human
107	ADCY1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
107	ADCY1	C4021806	Prelingual sensorineural hearing impairment	0.2	0	0	HPO
1071	CETP	C0007222	Cardiovascular Diseases	0.282133236089974	1	0	CTD_human
1071	CETP	C0020443	Hypercholesterolemia	0.235137545781727	0	0	HPO
1071	CETP	C0020445	Hypercholesterolemia, Familial	0.212752423034121	1	0	CTD_human
1071	CETP	C0020473	Hyperlipidemia	0.41554107827658	1	0	CTD_human;HPO
1071	CETP	C0020476	Hyperlipoproteinemias	0.207495812354077	2	0	CTD_human
1071	CETP	C0020538	Hypertensive disease	0.217398653231442	1	0	CTD_human
1071	CETP	C0020557	Hypertriglyceridemia	0.212151812308383	1	0	CTD_human
1071	CETP	C0242339	Dyslipidemias	0.215932474752736	1	0	CTD_human
1071	CETP	C0342883	Cholesteryl Ester Transfer Protein Deficiency	0.210439617800098	0	0	HPO
1071	CETP	C0542037	Hypotriglyceridaemia	0.2	0	0	HPO
1071	CETP	C0595929	Serum cholesterol raised	0.2	0	0	HPO
1071	CETP	C2362324	Pediatric Obesity	0.2	1	0	CTD_human
1071	CETP	C3149462	HYPERALPHALIPOPROTEINEMIA 1	0.607417623173754	2	2	CTD_human;ORPHANET;UNIPROT
10714	POLD3	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
10715	CERS1	C0025362	Mental Retardation	0.2	0	0	HPO
10715	CERS1	C0423903	Low intelligence	0.2	0	0	HPO
10715	CERS1	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
10715	CERS1	C0497327	Dementia	0.200549453568426	0	0	HPO
10715	CERS1	C0917816	Mental deficiency	0.2	0	0	HPO
10715	CERS1	C1843367	Poor school performance	0.2	0	0	HPO
10715	CERS1	C1864985	Progressive disorder	0.2	0	0	HPO
10715	CERS1	C3714756	Intellectual Disability	0.2	0	0	HPO
10715	CERS1	C4015619	EPILEPSY, PROGRESSIVE MYOCLONIC, 8	0.4	1	1	ORPHANET;UNIPROT
10715	CERS1	C4020876	Dull intelligence	0.2	0	0	HPO
10715	CERS1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10716	TBR1	C0008925	Cleft Palate	0.2	0	0	HPO
10716	TBR1	C0009363	Congenital ocular coloboma (disorder)	0.2	0	0	HPO
10716	TBR1	C0014544	Epilepsy	0.2	0	0	HPO
10716	TBR1	C0020534	Orbital separation excessive	0.2	0	0	HPO
10716	TBR1	C0024032	Low Birth Weights	0.2	0	0	HPO
10716	TBR1	C0025362	Mental Retardation	0.2	0	0	HPO
10716	TBR1	C0026010	Microphthalmos	0.2	0	0	HPO
10716	TBR1	C0036572	Seizures	0.2	0	0	HPO
10716	TBR1	C0086543	Cataract	0.2	0	0	HPO
10716	TBR1	C0151686	Growth retardation	0.2	0	0	HPO
10716	TBR1	C0231246	Failure to gain weight	0.2	0	0	HPO
10716	TBR1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
10716	TBR1	C0239815	Clenched hands	0.2	0	0	HPO
10716	TBR1	C0265660	Syndactyly of the toes	0.2	0	0	HPO
10716	TBR1	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
10716	TBR1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
10716	TBR1	C0423903	Low intelligence	0.2	0	0	HPO
10716	TBR1	C0456070	Growth delay	0.2	0	0	HPO
10716	TBR1	C0521525	Short neck	0.2	0	0	HPO
10716	TBR1	C0856975	Autistic behavior	0.2	0	0	HPO
10716	TBR1	C0878787	Growth failure	0.2	0	0	HPO
10716	TBR1	C0917816	Mental deficiency	0.2	0	0	HPO
10716	TBR1	C1510497	Lens Opacities	0.2	0	0	HPO
10716	TBR1	C1510586	Autism Spectrum Disorders	0.2	0	0	HPO
10716	TBR1	C1837385	Poor growth	0.2	0	0	HPO
10716	TBR1	C1837397	Global developmental delay, severe	0.2	0	0	HPO
10716	TBR1	C1843367	Poor school performance	0.2	0	0	HPO
10716	TBR1	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
10716	TBR1	C1855538	Small face	0.2	0	0	HPO
10716	TBR1	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
10716	TBR1	C1858091	Long fingers	0.2	0	0	HPO
10716	TBR1	C1861324	Short philtrum	0.2	0	0	HPO
10716	TBR1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
10716	TBR1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10716	TBR1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10716	TBR1	C3552463	Very poor growth	0.2	0	0	HPO
10716	TBR1	C3714756	Intellectual Disability	0.200824180352639	0	0	HPO
10716	TBR1	C4020876	Dull intelligence	0.2	0	0	HPO
10716	TBR1	C4024067	Bullet-shaped distal phalanx of the hallux	0.2	0	0	HPO
10716	TBR1	C4025845	Abnormality of the iris	0.2	0	0	HPO
10716	TBR1	C4025881	Abnormality of oral frenula	0.2	0	0	HPO
10716	TBR1	C4280625	Decreased size of eyeball	0.2	0	0	HPO
10716	TBR1	C4280808	Abnormally small eyeball	0.2	0	0	HPO
10717	AP4B1	C0013362	Dysarthria	0.2	0	0	HPO
10717	AP4B1	C0013421	Dystonia	0.2	0	0	HPO
10717	AP4B1	C0014544	Epilepsy	0.2	0	0	HPO
10717	AP4B1	C0023012	Language Delay	0.2	0	0	HPO
10717	AP4B1	C0024433	Macrostomia	0.2	0	0	HPO
10717	AP4B1	C0034935	Babinski Reflex	0.2	0	0	HPO
10717	AP4B1	C0036572	Seizures	0.2	0	0	HPO
10717	AP4B1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
10717	AP4B1	C0037772	Spastic Paraplegia	0.200274726784213	0	0	HPO
10717	AP4B1	C0151889	Hyperreflexia	0.2	0	0	HPO
10717	AP4B1	C0231712	Waddling gait	0.2	0	0	HPO
10717	AP4B1	C0233715	Speech impairment	0.2	0	0	HPO
10717	AP4B1	C0240543	Bulbous nose	0.2	0	0	HPO
10717	AP4B1	C0241210	Speech Delay	0.2	0	0	HPO
10717	AP4B1	C0344482	Hypoplasia of corpus callosum	0.200549453568426	0	0	HPO
10717	AP4B1	C0424688	Small head	0.2	0	0	HPO
10717	AP4B1	C0454644	Delayed speech and language development	0.2	0	0	HPO
10717	AP4B1	C0557874	Global developmental delay	0.2	0	0	HPO
10717	AP4B1	C1834118	Potato nose	0.2	0	0	HPO
10717	AP4B1	C1839758	Narrow forehead	0.2	0	0	HPO
10717	AP4B1	C1845847	Coarse facial features	0.2	0	0	HPO
10717	AP4B1	C1854494	Slow progression	0.2	0	0	HPO
10717	AP4B1	C1855751	Bulbous nasal tip	0.2	0	0	HPO
10717	AP4B1	C1861324	Short philtrum	0.2	0	0	HPO
10717	AP4B1	C1864897	Cognitive delay	0.2	0	0	HPO
10717	AP4B1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
10717	AP4B1	C2673431	Periventricular white matter abnormalities	0.2	0	0	HPO
10717	AP4B1	C2752013	Prenatal onset	0.2	0	0	HPO
10717	AP4B1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10717	AP4B1	C4020871	Dystonic disease	0.2	0	0	HPO
10717	AP4B1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10717	AP4B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10717	AP4B1	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
10718	NRG3	C0005586	Bipolar Disorder	0.200274726784213	2	1	PSYGENET
10718	NRG3	C0036341	Schizophrenia	0.209693626627782	1	1	CTD_human
10718	NRG3	C0853193	Bipolar I disorder	0.200274726784213	1	0	PSYGENET
1072	CFL1	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1072	CFL1	C0027627	Neoplasm Metastasis	0.200274726784213	1	0	CTD_human
1072	CFL1	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
1072	CFL1	C0080178	Spina Bifida	0.203007639249027	1	0	CTD_human
1072	CFL1	C0279626	Squamous cell carcinoma of esophagus	0.200274726784213	1	0	CTD_human
1072	CFL1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
10723	SLC12A7	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
1073	CFL2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1073	CFL2	C0151786	Muscle Weakness	0.2	0	0	HPO
1073	CFL2	C0234146	Absent reflex	0.2	0	0	HPO
1073	CFL2	C0234182	Gowers sign	0.2	0	0	HPO
1073	CFL2	C0240479	Neck muscle weakness	0.2	0	0	HPO
1073	CFL2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1073	CFL2	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1073	CFL2	C0278124	Absent tendon reflex	0.2	0	0	HPO
1073	CFL2	C0575071	Gowers sign present	0.2	0	0	HPO
1073	CFL2	C0575081	Gait abnormality	0.2	0	0	HPO
1073	CFL2	C1837658	Gross motor development delay	0.2	0	0	HPO
1073	CFL2	C1844820	Range of joint movement increased	0.2	0	0	HPO
1073	CFL2	C1850674	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	0.2	0	0	HPO
1073	CFL2	C1853154	Nemaline Myopathy 7	0.4	2	2	CTD_human;UNIPROT
1073	CFL2	C1854494	Slow progression	0.2	0	0	HPO
1073	CFL2	C3808039	Nemaline rods	0.2	0	0	HPO
1073	CFL2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10734	STAG3	C0025322	Premature Menopause	0.2	0	0	HPO
10734	STAG3	C0232939	Primary physiologic amenorrhea	0.2	0	0	HPO
10734	STAG3	C1862265	Elevated gonadotropins	0.2	0	0	HPO
10734	STAG3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10735	STAG2	C0005695	Bladder Neoplasm	0.201098907136852	3	0	CTD_human
10735	STAG2	C0007138	Carcinoma, Transitional Cell	0.2	1	0	CTD_human
10735	STAG2	C0023470	Myeloid Leukemia	0.2	1	0	CTD_human
10735	STAG2	C1860789	Leukemia, Megakaryoblastic, of Down Syndrome	0.2	1	0	CTD_human
10736	SIX2	C0022658	Kidney Diseases	0.2	1	0	CTD_human
10736	SIX2	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
10736	SIX2	C1876203	Frontonasal dysplasia	0.200274726784213	1	0	CTD_human
10743	RAI1	C0003467	Anxiety	0.2	0	0	HPO
10743	RAI1	C0003469	Anxiety Disorders	0.2	1	0	CTD_human
10743	RAI1	C0004352	Autistic Disorder	0.200549453568426	0	0	HPO
10743	RAI1	C0009806	Constipation	0.2	0	0	HPO
10743	RAI1	C0011053	Deafness	0.2	0	0	HPO
10743	RAI1	C0013362	Dysarthria	0.2	0	0	HPO
10743	RAI1	C0013528	Echolalia	0.2	0	0	HPO
10743	RAI1	C0014306	Enophthalmos	0.2	0	0	HPO
10743	RAI1	C0014544	Epilepsy	0.2	0	0	HPO
10743	RAI1	C0016202	Flatfoot	0.2	0	0	HPO
10743	RAI1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
10743	RAI1	C0018273	Growth Disorders	0.2	1	0	CTD_human
10743	RAI1	C0018672	Head Banging	0.2	0	0	HPO
10743	RAI1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10743	RAI1	C0018777	Conductive hearing loss	0.2	0	0	HPO
10743	RAI1	C0018798	Congenital Heart Defects	0.200274726784213	0	0	HPO
10743	RAI1	C0018834	Heartburn	0.2	0	0	HPO
10743	RAI1	C0019825	Hoarseness	0.2	0	0	HPO
10743	RAI1	C0020443	Hypercholesterolemia	0.2	0	0	HPO
10743	RAI1	C0020534	Orbital separation excessive	0.2	0	0	HPO
10743	RAI1	C0023012	Language Delay	0.2	0	0	HPO
10743	RAI1	C0025202	melanoma	0.2	1	0	CTD_human
10743	RAI1	C0025362	Mental Retardation	0.2	0	0	HPO
10743	RAI1	C0025990	Micrognathism	0.2	0	0	HPO
10743	RAI1	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10743	RAI1	C0026827	Muscle hypotonia	0.2	0	0	HPO
10743	RAI1	C0027092	Myopia	0.2	0	0	HPO
10743	RAI1	C0028754	Obesity	0.401098907136852	2	0	CTD_human;HPO
10743	RAI1	C0034880	Hyperacusis	0.2	0	0	HPO
10743	RAI1	C0036341	Schizophrenia	0.200549453568426	1	0	PSYGENET
10743	RAI1	C0036572	Seizures	0.2	0	0	HPO
10743	RAI1	C0036601	Self Mutilation	0.2	0	0	HPO
10743	RAI1	C0037315	Sleep Apnea Syndromes	0.2	0	0	HPO
10743	RAI1	C0037317	Sleep disturbances	0.200549453568426	0	0	HPO
10743	RAI1	C0037822	Speech Disorders	0.2	0	0	HPO
10743	RAI1	C0037932	Curvature of spine	0.2	0	0	HPO
10743	RAI1	C0038271	Stereotyped Behavior	0.2	0	0	HPO
10743	RAI1	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
10743	RAI1	C0038379	Strabismus	0.2	0	0	HPO
10743	RAI1	C0040128	Thyroid Diseases	0.2	0	0	HPO
10743	RAI1	C0040427	Tooth Abnormalities	0.2	0	0	HPO
10743	RAI1	C0042454	Velopharyngeal Insufficiency	0.2	0	0	HPO
10743	RAI1	C0085271	Self-Injurious Behavior	0.2	0	0	HPO
10743	RAI1	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
10743	RAI1	C0152021	Congenital heart disease	0.2	0	0	HPO
10743	RAI1	C0221354	Frontal bossing	0.2	0	0	HPO
10743	RAI1	C0221356	Brachycephaly	0.2	0	0	HPO
10743	RAI1	C0221357	Brachydactyly	0.2	0	0	HPO
10743	RAI1	C0231246	Failure to gain weight	0.2	0	0	HPO
10743	RAI1	C0233715	Speech impairment	0.2	0	0	HPO
10743	RAI1	C0234146	Absent reflex	0.2	0	0	HPO
10743	RAI1	C0235659	Reduced fetal movement	0.2	0	0	HPO
10743	RAI1	C0237326	Dyschezia	0.2	0	0	HPO
10743	RAI1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10743	RAI1	C0240379	Open mouth	0.2	0	0	HPO
10743	RAI1	C0241210	Speech Delay	0.2	0	0	HPO
10743	RAI1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10743	RAI1	C0262444	Dental abnormalities	0.2	0	0	HPO
10743	RAI1	C0264133	Acquired flat foot	0.2	0	0	HPO
10743	RAI1	C0264142	Spade-like hand	0.2	0	0	HPO
10743	RAI1	C0264611	Apraxia of Phonation	0.2	0	0	HPO
10743	RAI1	C0265660	Syndactyly of the toes	0.2	0	0	HPO
10743	RAI1	C0266039	Taurodontism	0.2	0	0	HPO
10743	RAI1	C0266292	Congenital anomaly of the kidney	0.200274726784213	0	0	HPO
10743	RAI1	C0266544	Microcornea	0.2	0	0	HPO
10743	RAI1	C0266589	Congenital ear anomaly NOS (disorder)	0.2	0	0	HPO
10743	RAI1	C0267071	Oropharyngeal Dysphagia	0.2	0	0	HPO
10743	RAI1	C0271441	Chronic otitis media	0.2	0	0	HPO
10743	RAI1	C0278124	Absent tendon reflex	0.2	0	0	HPO
10743	RAI1	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10743	RAI1	C0339789	Congenital deafness	0.2	0	0	HPO
10743	RAI1	C0349391	Apraxia, Verbal	0.2	0	0	HPO
10743	RAI1	C0349588	Short stature	0.2	0	0	HPO
10743	RAI1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
10743	RAI1	C0399526	Class III malocclusion	0.2	0	0	HPO
10743	RAI1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
10743	RAI1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
10743	RAI1	C0423224	Sunken eyes	0.2	0	0	HPO
10743	RAI1	C0423903	Low intelligence	0.2	0	0	HPO
10743	RAI1	C0424295	Hyperactive behavior	0.200274726784213	0	0	HPO
10743	RAI1	C0426414	Small nose	0.2	0	0	HPO
10743	RAI1	C0431447	Synophrys	0.2	0	0	HPO
10743	RAI1	C0454641	Expressive language delay	0.2	0	0	HPO
10743	RAI1	C0454644	Delayed speech and language development	0.2	0	0	HPO
10743	RAI1	C0525041	Neurobehavioral Manifestations	0.2	1	0	CTD_human
10743	RAI1	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
10743	RAI1	C0575081	Gait abnormality	0.2	0	0	HPO
10743	RAI1	C0595929	Serum cholesterol raised	0.2	0	0	HPO
10743	RAI1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
10743	RAI1	C0700201	Dyssomnias	0.200549453568426	1	0	CTD_human
10743	RAI1	C0700208	Acquired scoliosis	0.2	0	0	HPO
10743	RAI1	C0743359	ear infection chronic	0.2	0	0	HPO
10743	RAI1	C0795864	Smith-Magenis syndrome	0.489890164231672	12	8	CTD_human;ORPHANET
10743	RAI1	C0917816	Mental deficiency	0.2	0	0	HPO
10743	RAI1	C0973461	Dysphasia	0.2	0	0	HPO
10743	RAI1	C1167713	Corneal diameter decreased	0.2	0	0	HPO
10743	RAI1	C1263846	Attention deficit hyperactivity disorder	0.2	0	0	HPO
10743	RAI1	C1384666	hearing impairment	0.2	0	0	HPO
10743	RAI1	C1510586	Autism Spectrum Disorders	0.200824180352639	1	0	CTD_human
10743	RAI1	C1522137	Hypertriglyceridemia result	0.2	0	0	HPO
10743	RAI1	C1835884	Triangular face	0.2	0	0	HPO
10743	RAI1	C1836542	Depressed nasal bridge	0.2	0	0	HPO
10743	RAI1	C1837522	Decreased pain sensation	0.2	0	0	HPO
10743	RAI1	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
10743	RAI1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10743	RAI1	C1839767	Inverted V-shaped upper lip	0.2	0	0	HPO
10743	RAI1	C1840077	Anteverted nostril	0.2	0	0	HPO
10743	RAI1	C1843108	Short hands	0.2	0	0	HPO
10743	RAI1	C1843367	Poor school performance	0.2	0	0	HPO
10743	RAI1	C1844007	Corticospinal tract hypoplasia	0.2	0	0	HPO
10743	RAI1	C1846460	Malformed pinnae	0.2	0	0	HPO
10743	RAI1	C1847610	Deficit in expressive language	0.2	0	0	HPO
10743	RAI1	C1849089	Broad forehead	0.2	0	0	HPO
10743	RAI1	C1849367	Nasal bridge wide	0.2	0	0	HPO
10743	RAI1	C1849538	Delayed eruption of primary teeth	0.2	0	0	HPO
10743	RAI1	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10743	RAI1	C1850072	Tented upper lip	0.2	0	0	HPO
10743	RAI1	C1853237	Isolated cases	0.2	0	0	HPO
10743	RAI1	C1853242	Midface retrusion	0.2	0	0	HPO
10743	RAI1	C1853383	Tented mouth	0.2	0	0	HPO
10743	RAI1	C1854114	Short nose	0.2	0	0	HPO
10743	RAI1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10743	RAI1	C1857456	Middle ear malformations	0.2	0	0	HPO
10743	RAI1	C1858085	Malar flattening	0.2	0	0	HPO
10743	RAI1	C1858120	Generalized hypotonia	0.2	0	0	HPO
10743	RAI1	C1859680	Broad face	0.2	0	0	HPO
10743	RAI1	C1861324	Short philtrum	0.2	0	0	HPO
10743	RAI1	C1861866	Hypoplasia or absence of the corpus callosum	0.2	0	0	HPO
10743	RAI1	C1864897	Cognitive delay	0.2	0	0	HPO
10743	RAI1	C1867864	Poor fine motor coordination	0.2	0	0	HPO
10743	RAI1	C1867873	Failure to thrive in infancy	0.2	0	0	HPO
10743	RAI1	C1970482	Potocki-Lupski syndrome	0.281923087489492	1	0	CTD_human
10743	RAI1	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10743	RAI1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10743	RAI1	C2673410	Small midface	0.2	0	0	HPO
10743	RAI1	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10743	RAI1	C2748652	Large face	0.2	0	0	HPO
10743	RAI1	C2931246	Chromosome 17, trisomy 17p11 2	0.2	0	0	ORPHANET
10743	RAI1	C3275452	Protruding upper lip	0.2	0	0	HPO
10743	RAI1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10743	RAI1	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
10743	RAI1	C3714756	Intellectual Disability	0.400274726784213	1	1	CTD_human;HPO
10743	RAI1	C3887612	Psychomotor Agitation	0.2	1	0	CTD_human
10743	RAI1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10743	RAI1	C4020876	Dull intelligence	0.2	0	0	HPO
10743	RAI1	C4020884	Anxiety disease	0.2	0	0	HPO
10743	RAI1	C4021631	Abnormality of the tracheobronchial system	0.2	0	0	HPO
10743	RAI1	C4021753	Abnormality of the immune system	0.2	0	0	HPO
10743	RAI1	C4021777	Abnormality of the larynx	0.2	0	0	HPO
10743	RAI1	C4023698	Everted upper lip vermilion	0.2	0	0	HPO
10743	RAI1	C4024665	High-grade hypermetropia	0.2	0	0	HPO
10743	RAI1	C4025670	Abnormality of chromosome segregation	0.2	0	0	HPO
10743	RAI1	C4049796	Abnormality of cardiovascular system morphology	0.2	0	0	HPO
10743	RAI1	C4072823	Broad cranium shape	0.2	0	0	HPO
10743	RAI1	C4072824	Wide skull shape	0.2	0	0	HPO
10743	RAI1	C4280320	Hypotrophic midface	0.2	0	0	HPO
10743	RAI1	C4280321	Decreased projection of midface	0.2	0	0	HPO
10743	RAI1	C4280363	Drooping upper lip	0.2	0	0	HPO
10743	RAI1	C4280380	Repeated speech	0.2	0	0	HPO
10743	RAI1	C4280495	Concave bridge of nose	0.2	0	0	HPO
10743	RAI1	C4280538	Curvature of little finger	0.2	0	0	HPO
10743	RAI1	C4280573	Communication delay	0.2	0	0	HPO
10743	RAI1	C4280616	Large elongated pulp chamber	0.2	0	0	HPO
10743	RAI1	C4280644	Increased size of mandible	0.2	0	0	HPO
10743	RAI1	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10743	RAI1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
10743	RAI1	C4280669	Velopharyngeal dysfunction	0.2	0	0	HPO
10747	MASP2	C0009324	Ulcerative Colitis	0.2	1	0	CTD_human
10747	MASP2	C0014742	Erythema Multiforme	0.2	1	0	CTD_human
10747	MASP2	C0020951	Immune Complex Diseases	0.2	1	0	CTD_human
10747	MASP2	C0021368	Inflammation	0.2	1	0	CTD_human
10747	MASP2	C0155862	Streptococcal pneumonia	0.202407028523288	1	0	CTD_human
10747	MASP2	C3151085	MASP2 Deficiency	0.6	1	2	CTD_human;ORPHANET;UNIPROT
10749	KIF1C	C0013362	Dysarthria	0.2	0	0	HPO
10749	KIF1C	C0015644	Muscular fasciculation	0.2	0	0	HPO
10749	KIF1C	C0026838	Muscle Spasticity	0.2	0	0	HPO
10749	KIF1C	C0034935	Babinski Reflex	0.2	0	0	HPO
10749	KIF1C	C0151889	Hyperreflexia	0.2	0	0	HPO
10749	KIF1C	C0234162	Cerebellar Dysmetria	0.2	0	0	HPO
10749	KIF1C	C0271385	Horizontal Nystagmus	0.2	0	0	HPO
10749	KIF1C	C0751837	Gait Ataxia	0.2	0	0	HPO
10749	KIF1C	C0850703	Frequent falls	0.2	0	0	HPO
10749	KIF1C	C1608410	Head titubation	0.2	0	0	HPO
10749	KIF1C	C1848736	Distal amyotrophy	0.2	0	0	HPO
10749	KIF1C	C1849156	Spastic Ataxia	0.200274726784213	0	0	HPO
10749	KIF1C	C1864985	Progressive disorder	0.2	0	0	HPO
10749	KIF1C	C1969796	ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)	0.4	1	5	ORPHANET;UNIPROT
10749	KIF1C	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1075	CTSC	C0003706	Arachnodactyly	0.2	0	0	HPO
1075	CTSC	C0016202	Flatfoot	0.2	0	0	HPO
1075	CTSC	C0017574	Gingivitis	0.200274726784213	0	0	HPO
1075	CTSC	C0022596	Palmoplantar Keratosis	0.201373633921065	0	0	HPO
1075	CTSC	C0030360	Papillon-Lefevre Disease	0.635324912144952	15	18	CTD_human;ORPHANET;UNIPROT
1075	CTSC	C0031090	Periodontal Diseases	0.203231208875927	1	0	CTD_human
1075	CTSC	C0031106	Periodontitis, Juvenile	0.405205453522732	1	3	CTD_human;UNIPROT
1075	CTSC	C0037268	Skin Abnormalities	0.2	0	0	HPO
1075	CTSC	C0037274	Dermatologic disorders	0.2	0	0	HPO
1075	CTSC	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1075	CTSC	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1075	CTSC	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
1075	CTSC	C0221260	Dystrophia unguium	0.2	0	0	HPO
1075	CTSC	C0232513	Premature tooth loss	0.2	0	0	HPO
1075	CTSC	C0241157	pustule	0.2	0	0	HPO
1075	CTSC	C0263537	Onychogryposis	0.2	0	0	HPO
1075	CTSC	C0264133	Acquired flat foot	0.2	0	0	HPO
1075	CTSC	C0266052	Precocious exfoliation of primary tooth	0.2	0	0	HPO
1075	CTSC	C0270685	Cerebral calcification	0.2	0	0	HPO
1075	CTSC	C0399385	Early tooth exfoliation	0.2	0	0	HPO
1075	CTSC	C0542346	Pimples	0.2	0	0	HPO
1075	CTSC	C0917990	Acro-Osteolysis	0.2	0	0	HPO
1075	CTSC	C1835686	Recurrent bacterial skin infections	0.2	0	0	HPO
1075	CTSC	C1855627	HAIM-MUNK SYNDROME	0.601373633921066	2	1	CTD_human;ORPHANET;UNIPROT
1075	CTSC	C1855633	Congenital palmoplantar keratosis	0.2	0	0	HPO
1075	CTSC	C1855642	Atrophy of alveolar ridges	0.2	0	0	HPO
1075	CTSC	C1863184	Calcified choroid plexus	0.2	0	0	HPO
1075	CTSC	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1075	CTSC	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1075	CTSC	C4021782	Abnormality of the fingernails	0.2	0	0	HPO
1075	CTSC	C4021957	Recurrent cutaneous abscess formation	0.2	0	0	HPO
1075	CTSC	C4023521	Chronic furunculosis	0.2	0	0	HPO
1075	CTSC	C4024202	Reduced number of teeth	0.2	0	0	HPO
1075	CTSC	C4025078	Tapering pointed ends of distal finger phalanges	0.2	0	0	HPO
1075	CTSC	C4025886	Severe periodontitis	0.200274726784213	0	0	HPO
1075	CTSC	C4083050	Agenesis of teeth	0.2	0	0	HPO
1075	CTSC	C4280454	Flattening of alveolar margin	0.2	0	0	HPO
1075	CTSC	C4280455	Flattening of alveolar processes of jaw	0.2	0	0	HPO
10752	CHL1	C0005745	Blepharoptosis	0.2	0	0	HPO
10752	CHL1	C0008925	Cleft Palate	0.2	0	0	HPO
10752	CHL1	C0010417	Cryptorchidism	0.2	0	0	HPO
10752	CHL1	C0011053	Deafness	0.2	0	0	HPO
10752	CHL1	C0014116	Endocardial Cushion Defects	0.2	0	0	HPO
10752	CHL1	C0015923	Fetal Alcohol Syndrome	0.200274726784213	1	0	PSYGENET
10752	CHL1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10752	CHL1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
10752	CHL1	C0020534	Orbital separation excessive	0.2	0	0	HPO
10752	CHL1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10752	CHL1	C0025990	Micrognathism	0.2	0	0	HPO
10752	CHL1	C0026827	Muscle hypotonia	0.2	0	0	HPO
10752	CHL1	C0036341	Schizophrenia	0.209744783785095	2	0	CTD_human
10752	CHL1	C0221356	Brachycephaly	0.2	0	0	HPO
10752	CHL1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10752	CHL1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10752	CHL1	C0338656	Impaired cognition	0.200549453568426	0	0	HPO
10752	CHL1	C0339789	Congenital deafness	0.2	0	0	HPO
10752	CHL1	C0349588	Short stature	0.2	0	0	HPO
10752	CHL1	C0423113	Telecanthus	0.2	0	0	HPO
10752	CHL1	C0424688	Small head	0.2	0	0	HPO
10752	CHL1	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
10752	CHL1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10752	CHL1	C0683322	Mental impairment	0.200274726784213	0	0	HPO
10752	CHL1	C0795806	Chromosome 3, monosomy 3p	0.2	0	0	ORPHANET
10752	CHL1	C1384666	hearing impairment	0.2	0	0	HPO
10752	CHL1	C1386048	Intrauterine retardation	0.2	0	0	HPO
10752	CHL1	C1389016	ATRIOVENTRICULAR CANAL DEFECT	0.2	0	0	HPO
10752	CHL1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10752	CHL1	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
10752	CHL1	C1865014	Long philtrum	0.2	0	0	HPO
10752	CHL1	C1866195	Downturned corners of mouth	0.2	0	0	HPO
10752	CHL1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10752	CHL1	C2985290	Fetal Alcohol Spectrum Disorders	0.200274726784213	1	0	PSYGENET
10752	CHL1	C3714756	Intellectual Disability	0.200824180352639	1	0	CTD_human
10752	CHL1	C4072823	Broad cranium shape	0.2	0	0	HPO
10752	CHL1	C4072824	Wide skull shape	0.2	0	0	HPO
10758	TRAF3IP2	C0003872	Arthritis, Psoriatic	0.204604842796993	2	1	CTD_human
10758	TRAF3IP2	C0005741	Blepharitis	0.2	0	0	HPO
10758	TRAF3IP2	C0006845	Candidiasis, Chronic Mucocutaneous	0.200274726784213	0	0	ORPHANET
10758	TRAF3IP2	C0007971	Cheilitis	0.2	0	0	HPO
10758	TRAF3IP2	C0015230	Exanthema	0.2	0	0	HPO
10758	TRAF3IP2	C0016382	Flushing	0.2	0	0	HPO
10758	TRAF3IP2	C0024421	Macroglossia	0.2	0	0	HPO
10758	TRAF3IP2	C0033860	Psoriasis	0.207561324888707	3	3	CTD_human
10758	TRAF3IP2	C0037299	Skin Ulcer	0.2	0	0	HPO
10758	TRAF3IP2	C0040261	Onychomycosis	0.2	0	0	HPO
10758	TRAF3IP2	C0041834	Erythema	0.2	0	0	HPO
10758	TRAF3IP2	C0332563	Papule	0.2	0	0	HPO
10758	TRAF3IP2	C0339063	Cellulitis of eyelid	0.2	0	0	HPO
10758	TRAF3IP2	C0870082	Hyperkeratosis	0.2	0	0	HPO
10758	TRAF3IP2	C1384606	Dyspareunia	0.2	0	0	HPO
10758	TRAF3IP2	C1843112	Broad fingernails	0.2	0	0	HPO
10758	TRAF3IP2	C1856023	Vaginal malformation	0.2	0	0	HPO
10758	TRAF3IP2	C3279754	PSORIASIS 13, SUSCEPTIBILITY TO	0.2	2	1	UNIPROT
10758	TRAF3IP2	C3714992	CANDIDIASIS, FAMILIAL, 8	0.2	1	1	UNIPROT
10758	TRAF3IP2	C3839753	Abnormality of nail of toe	0.2	0	0	HPO
10758	TRAF3IP2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10758	TRAF3IP2	C4021782	Abnormality of the fingernails	0.2	0	0	HPO
10758	TRAF3IP2	C4280288	Red and sore lips	0.2	0	0	HPO
10763	NES	C0014549	Tonic-Clonic Epilepsy	0.2	1	0	CTD_human
10763	NES	C0027720	Nephrosis	0.2	1	0	CTD_human
10765	KDM5B	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
10766	TOB2	C0042900	Vitiligo	0.2	1	0	CTD_human
10769	PLK2	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
10769	PLK2	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
10769	PLK2	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
10769	PLK2	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
10771	ZMYND11	C0001807	Aggressive behavior	0.2	0	0	HPO
10771	ZMYND11	C0004352	Autistic Disorder	0.200274726784213	1	0	CTD_human
10771	ZMYND11	C0005745	Blepharoptosis	0.2	0	0	HPO
10771	ZMYND11	C0020534	Orbital separation excessive	0.2	0	0	HPO
10771	ZMYND11	C0023012	Language Delay	0.2	0	0	HPO
10771	ZMYND11	C0024433	Macrostomia	0.2	0	0	HPO
10771	ZMYND11	C0025362	Mental Retardation	0.2	0	0	HPO
10771	ZMYND11	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10771	ZMYND11	C0233715	Speech impairment	0.2	0	0	HPO
10771	ZMYND11	C0241210	Speech Delay	0.2	0	0	HPO
10771	ZMYND11	C0266617	Congenital anomaly of face	0.2	0	0	HPO
10771	ZMYND11	C0423903	Low intelligence	0.2	0	0	HPO
10771	ZMYND11	C0424323	Physical aggression	0.2	0	0	HPO
10771	ZMYND11	C0424503	Dysmorphic facies	0.2	0	0	HPO
10771	ZMYND11	C0454644	Delayed speech and language development	0.2	0	0	HPO
10771	ZMYND11	C0557874	Global developmental delay	0.2	0	0	HPO
10771	ZMYND11	C0917816	Mental deficiency	0.2	0	0	HPO
10771	ZMYND11	C1385263	facial deformity	0.2	0	0	HPO
10771	ZMYND11	C1457883	Aggressive reaction	0.2	0	0	HPO
10771	ZMYND11	C1843367	Poor school performance	0.2	0	0	HPO
10771	ZMYND11	C1864897	Cognitive delay	0.2	0	0	HPO
10771	ZMYND11	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
10771	ZMYND11	C4020875	Mental and motor retardation	0.2	0	0	HPO
10771	ZMYND11	C4020876	Dull intelligence	0.2	0	0	HPO
10771	ZMYND11	C4072832	Distortion of face	0.2	0	0	HPO
10771	ZMYND11	C4072833	Funny looking face	0.2	0	0	HPO
10772	SRSF10	C0014170	Endometrial Neoplasms	0.2	1	0	CTD_human
10772	SRSF10	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
10772	SRSF10	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
10772	SRSF10	C0919267	ovarian neoplasm	0.2	1	0	CTD_human
10775	POP4	C0919267	ovarian neoplasm	0.2	1	0	CTD_human
10783	NEK6	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10788	IQGAP2	C2239176	Liver carcinoma	0.281373633921066	1	0	CTD_human
10797	MTHFD2	C0019829	Hodgkin Disease	0.2	1	0	CTD_human
108	ADCY2	C0004096	Asthma	0.2	1	0	CTD_human
108	ADCY2	C0005586	Bipolar Disorder	0.200549453568426	1	1	PSYGENET
1080	CFTR	C0001973	Alcoholic Intoxication, Chronic	0.202407028523288	1	0	PSYGENET
1080	CFTR	C0004096	Asthma	0.225784158472789	0	0	HPO
1080	CFTR	C0004509	Azoospermia	0.418563072902925	1	0	CTD_human;HPO
1080	CFTR	C0006267	Bronchiectasis	0.2121661676857	0	0	HPO
1080	CFTR	C0008312	Primary biliary cirrhosis	0.200274726784213	0	0	HPO
1080	CFTR	C0008340	Choledochal Cyst	0.2	1	0	CTD_human
1080	CFTR	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1080	CFTR	C0010674	Cystic Fibrosis	1	52	416	CTD_human;ORPHANET;UNIPROT
1080	CFTR	C0019284	Diaphragmatic Hernia	0.2	1	0	CTD_human
1080	CFTR	C0020438	Hypercalciuria	0.2	0	0	HPO
1080	CFTR	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1080	CFTR	C0021364	Male infertility	0.449161288422289	2	0	CTD_human;HPO
1080	CFTR	C0023892	Biliary cirrhosis	0.202407028523288	0	0	HPO
1080	CFTR	C0030293	Pancreatic Insufficiency	0.205219808900049	0	0	HPO
1080	CFTR	C0030305	Pancreatitis	0.305938564295626	2	0	CTD_human
1080	CFTR	C0034069	Pulmonary Fibrosis	0.200274726784213	0	0	HPO
1080	CFTR	C0034072	Cor pulmonale	0.200274726784213	0	0	HPO
1080	CFTR	C0034888	Rectal Prolapse	0.2	0	0	HPO
1080	CFTR	C0035455	Rhinitis	0.207221085569864	1	0	CTD_human
1080	CFTR	C0037199	Sinusitis	0.208319992706716	1	0	CTD_human
1080	CFTR	C0085548	Autosomal Recessive Polycystic Kidney Disease	0.2	1	0	CTD_human
1080	CFTR	C0086438	Hypogammaglobulinemia	0.2	0	0	HPO
1080	CFTR	C0149521	Pancreatitis, Chronic	0.251485542144921	1	0	CTD_human
1080	CFTR	C0231246	Failure to gain weight	0.2	0	0	HPO
1080	CFTR	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1080	CFTR	C0238339	Hereditary pancreatitis	0.401098907136852	0	0	CTD_human;ORPHANET
1080	CFTR	C0241355	Small testicle	0.2	0	0	HPO
1080	CFTR	C0266444	Congenital absence of vas deferens	0.206868169605328	0	0	HPO
1080	CFTR	C0267963	Exocrine pancreatic insufficiency	0.224750763870566	0	0	HPO
1080	CFTR	C0339985	Idiopathic bronchiectasis	0.200549453568426	0	0	ORPHANET
1080	CFTR	C0398349	Distal intestinal obstruction syndrome	0.200274726784213	0	0	HPO
1080	CFTR	C0403814	Congenital bilateral aplasia of vas deferens	0.711528067649877	6	24	CTD_human;ORPHANET;UNIPROT
1080	CFTR	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1080	CFTR	C0746102	Chronic lung disease	0.201098907136852	0	0	HPO
1080	CFTR	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1080	CFTR	C0876973	Infectious disease of lung	0.204120901763196	0	0	HPO
1080	CFTR	C1856646	Elevated sweat chloride	0.2	0	0	HPO
1080	CFTR	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1080	CFTR	C1862265	Elevated gonadotropins	0.2	0	0	HPO
1080	CFTR	C2169795	Recurrent bronchopulmonary infections	0.2	0	0	HPO
1080	CFTR	C2315100	Pediatric failure to thrive	0.200274726784213	0	0	HPO
1080	CFTR	C2749757	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	0.2	0	0	CTD_human
1080	CFTR	C2939175	Meconium ileus	0.202472541057918	0	0	HPO
1080	CFTR	C3553397	Meconium ileus on ultrasonography	0.2	0	0	HPO
1080	CFTR	C3714497	Reactive airway disease	0.2	0	0	HPO
1080	CFTR	C3714745	Malabsorption	0.2	0	0	HPO
1080	CFTR	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1080	CFTR	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1080	CFTR	C4021107	Non-obstructive azoospermia	0.200274726784213	0	0	HPO
1080	CFTR	C4023106	Obstructive azoospermia	0.204670355331623	0	0	HPO
1080	CFTR	C4048270	Decreased antibody level in blood	0.2	0	0	HPO
10800	CYSLTR1	C0013182	Drug Allergy	0.202407028523288	1	0	CTD_human
10800	CYSLTR1	C1319853	Asthma, Aspirin-Induced	0.200549453568426	3	0	CTD_human
10804	GJB6	C0002170	Alopecia	0.200274726784213	0	0	HPO
10804	GJB6	C0005741	Blepharitis	0.2	0	0	HPO
10804	GJB6	C0009763	Conjunctivitis	0.2	0	0	HPO
10804	GJB6	C0011053	Deafness	0.26772268259359	0	0	HPO
10804	GJB6	C0013575	Ectodermal Dysplasia	0.403007639249027	0	0	CTD_human;HPO
10804	GJB6	C0016382	Flushing	0.2	0	0	HPO
10804	GJB6	C0018772	Hearing Loss, Partial	0.264989770128776	0	0	HPO
10804	GJB6	C0018777	Conductive hearing loss	0.2	0	0	HPO
10804	GJB6	C0018784	Sensorineural Hearing Loss (disorder)	0.221295985367738	0	0	HPO
10804	GJB6	C0020620	Hypohidrosis	0.2	0	0	HPO
10804	GJB6	C0020678	Hypotrichosis	0.2	0	0	HPO
10804	GJB6	C0020757	Ichthyoses	0.2	0	0	HPO
10804	GJB6	C0022568	Keratitis	0.200274726784213	0	0	HPO
10804	GJB6	C0022596	Palmoplantar Keratosis	0.200824180352639	0	0	HPO
10804	GJB6	C0023532	Leukoplakia, Oral	0.2	0	0	HPO
10804	GJB6	C0037299	Skin Ulcer	0.2	0	0	HPO
10804	GJB6	C0038379	Strabismus	0.2	0	0	HPO
10804	GJB6	C0040412	Fissured tongue	0.2	0	0	HPO
10804	GJB6	C0040427	Tooth Abnormalities	0.2	0	0	HPO
10804	GJB6	C0041834	Erythema	0.2	0	0	HPO
10804	GJB6	C0042798	Low Vision	0.2	0	0	HPO
10804	GJB6	C0085109	Corneal Neovascularization	0.2	0	0	HPO
10804	GJB6	C0085636	Photophobia	0.2	0	0	HPO
10804	GJB6	C0085661	Onycholysis	0.2	0	0	HPO
10804	GJB6	C0086543	Cataract	0.2	0	0	HPO
10804	GJB6	C0162361	Hidrotic Ectodermal Dysplasia	0.483296721410557	2	4	ORPHANET;UNIPROT
10804	GJB6	C0162834	Hyperpigmentation	0.2	0	0	HPO
10804	GJB6	C0221204	Lytic lesion	0.2	0	0	HPO
10804	GJB6	C0221260	Dystrophia unguium	0.2	0	0	HPO
10804	GJB6	C0262444	Dental abnormalities	0.2	0	0	HPO
10804	GJB6	C0263490	Brittle hair	0.2	0	0	HPO
10804	GJB6	C0263504	Alopecia totalis	0.2	0	0	HPO
10804	GJB6	C0263523	Micronychia (disorder)	0.2	0	0	HPO
10804	GJB6	C0263537	Onychogryposis	0.2	0	0	HPO
10804	GJB6	C0265336	Senter syndrome	0.200549453568426	0	0	ORPHANET
10804	GJB6	C0332573	Macule	0.2	0	0	HPO
10804	GJB6	C0339063	Cellulitis of eyelid	0.2	0	0	HPO
10804	GJB6	C0339789	Congenital deafness	0.201648360705279	0	0	HPO
10804	GJB6	C0349588	Short stature	0.2	0	0	HPO
10804	GJB6	C0423807	Overcurvature of nail	0.2	0	0	HPO
10804	GJB6	C0423867	Fine hair	0.2	0	0	HPO
10804	GJB6	C1384666	hearing impairment	0.248792338348812	0	0	HPO
10804	GJB6	C1510497	Lens Opacities	0.2	0	0	HPO
10804	GJB6	C1704317	Leukokeratosis	0.2	0	0	HPO
10804	GJB6	C1832348	Slow-growing hair	0.2	0	0	HPO
10804	GJB6	C1832446	Sparse eyebrow	0.2	0	0	HPO
10804	GJB6	C1833225	Dystrophic toenail changes	0.2	0	0	HPO
10804	GJB6	C1834405	Nail dysplasia	0.2	0	0	HPO
10804	GJB6	C1835686	Recurrent bacterial skin infections	0.2	0	0	HPO
10804	GJB6	C1837279	Hypoplastic toenails	0.2	0	0	HPO
10804	GJB6	C1837770	Sparse hair	0.2	0	0	HPO
10804	GJB6	C1843156	Hearing loss, progressive sensorineural	0.200274726784213	0	0	HPO
10804	GJB6	C1843300	Sparse eyelashes	0.2	0	0	HPO
10804	GJB6	C1845977	X- linked recessive	0.2	0	0	HPO
10804	GJB6	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
10804	GJB6	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
10804	GJB6	C1856786	Hypoplastic fingernails	0.2	0	0	HPO
10804	GJB6	C1856963	Fragile nails	0.2	0	0	HPO
10804	GJB6	C1857042	Sparse scalp hair	0.2	0	0	HPO
10804	GJB6	C1858573	Sparse pubic hair	0.2	0	0	HPO
10804	GJB6	C1858574	Sparse axillary hair	0.2	0	0	HPO
10804	GJB6	C1859391	Absent pubic hair	0.2	0	0	HPO
10804	GJB6	C1859392	Absent axillary hair	0.2	0	0	HPO
10804	GJB6	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
10804	GJB6	C1860844	Thin, sparse hair	0.2	0	0	HPO
10804	GJB6	C1861326	Stapes ankylosis	0.2	0	0	HPO
10804	GJB6	C1861403	Variable expressivity	0.2	0	0	HPO
10804	GJB6	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
10804	GJB6	C1866862	Highly variable severity	0.2	0	0	HPO
10804	GJB6	C1969913	Hyperkeratosis, generalized	0.2	0	0	HPO
10804	GJB6	C1970705	Fragile hair	0.2	0	0	HPO
10804	GJB6	C2266639	Absence of eyebrows	0.2	0	0	HPO
10804	GJB6	C2673759	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	0.28	0	0	CTD_human
10804	GJB6	C2675111	Abnormal eyelashes	0.2	0	0	HPO
10804	GJB6	C2675235	Deafness, Autosomal Recessive 1b	0.2	0	0	CTD_human
10804	GJB6	C2675237	Deafness, Autosomal Dominant 3B	0.4	1	1	CTD_human;UNIPROT
10804	GJB6	C2675750	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	0.2	0	0	CTD_human
10804	GJB6	C2676973	Bulbous internal auditory canal	0.2	0	0	HPO
10804	GJB6	C3551426	Dystrophic fingernails	0.2	0	0	HPO
10804	GJB6	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
10804	GJB6	C3665333	Keratitis-Ichthyosis-Deafness Syndrome	0.200549453568426	0	0	ORPHANET
10804	GJB6	C3665347	Visual Impairment	0.2	0	0	HPO
10804	GJB6	C4020887	Photodysphoria	0.2	0	0	HPO
10804	GJB6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10804	GJB6	C4020960	Abnormality of nail color	0.2	0	0	HPO
10804	GJB6	C4021534	Adult onset sensorineural hearing impairment	0.2	0	0	HPO
10804	GJB6	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
10804	GJB6	C4024878	Generalized hyperpigmentation	0.2	0	0	HPO
10804	GJB6	C4072837	Fractured hair	0.2	0	0	HPO
10806	SDCCAG8	C0004096	Asthma	0.2	0	0	HPO
10806	SDCCAG8	C0005424	Biliary Tract Diseases	0.2	0	0	HPO
10806	SDCCAG8	C0006271	Bronchiolitis	0.2	0	0	HPO
10806	SDCCAG8	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
10806	SDCCAG8	C0011849	Diabetes Mellitus	0.2	0	0	HPO
10806	SDCCAG8	C0019572	Hirsutism	0.2	0	0	HPO
10806	SDCCAG8	C0020538	Hypertensive disease	0.2	0	0	HPO
10806	SDCCAG8	C0020608	Hypodontia	0.2	0	0	HPO
10806	SDCCAG8	C0020619	Hypogonadism	0.2	0	0	HPO
10806	SDCCAG8	C0022679	Cystic kidney	0.2	0	0	HPO
10806	SDCCAG8	C0023012	Language Delay	0.2	0	0	HPO
10806	SDCCAG8	C0025322	Premature Menopause	0.2	0	0	HPO
10806	SDCCAG8	C0025362	Mental Retardation	0.2	0	0	HPO
10806	SDCCAG8	C0028738	Nystagmus	0.2	0	0	HPO
10806	SDCCAG8	C0028754	Obesity	0.203231208875927	0	0	HPO
10806	SDCCAG8	C0035078	Kidney Failure	0.2	0	0	HPO
10806	SDCCAG8	C0035304	Retinal Degeneration	0.2	0	0	HPO
10806	SDCCAG8	C0035309	Retinal Diseases	0.2	1	0	CTD_human
10806	SDCCAG8	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
10806	SDCCAG8	C0036341	Schizophrenia	0.200274726784213	1	5	PSYGENET
10806	SDCCAG8	C0037822	Speech Disorders	0.2	0	0	HPO
10806	SDCCAG8	C0038379	Strabismus	0.2	0	0	HPO
10806	SDCCAG8	C0039075	Syndactyly	0.2	0	0	HPO
10806	SDCCAG8	C0040433	Tooth Crowding	0.2	0	0	HPO
10806	SDCCAG8	C0042798	Low Vision	0.2	0	0	HPO
10806	SDCCAG8	C0149721	Left Ventricular Hypertrophy	0.2	0	0	HPO
10806	SDCCAG8	C0158734	Polydactyly of toes	0.2	0	0	HPO
10806	SDCCAG8	C0162283	Nephrogenic Diabetes Insipidus	0.2	0	0	HPO
10806	SDCCAG8	C0221357	Brachydactyly	0.2	0	0	HPO
10806	SDCCAG8	C0233715	Speech impairment	0.2	0	0	HPO
10806	SDCCAG8	C0239946	Fibrosis, Liver	0.2	0	0	HPO
10806	SDCCAG8	C0241210	Speech Delay	0.2	0	0	HPO
10806	SDCCAG8	C0241355	Small testicle	0.2	0	0	HPO
10806	SDCCAG8	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10806	SDCCAG8	C0338656	Impaired cognition	0.2	0	0	HPO
10806	SDCCAG8	C0349588	Short stature	0.2	0	0	HPO
10806	SDCCAG8	C0403553	Renal dysplasia and retinal aplasia (disorder)	0.200274726784213	0	0	ORPHANET
10806	SDCCAG8	C0423903	Low intelligence	0.2	0	0	HPO
10806	SDCCAG8	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
10806	SDCCAG8	C0454644	Delayed speech and language development	0.2	0	0	HPO
10806	SDCCAG8	C0476273	Respiratory distress	0.2	0	0	HPO
10806	SDCCAG8	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10806	SDCCAG8	C0497247	Increase in blood pressure	0.2	0	0	HPO
10806	SDCCAG8	C0542519	Congenital absence of kidney	0.2	0	0	HPO
10806	SDCCAG8	C0549613	BILIARY TRACT ABNORMALITY	0.2	0	0	HPO
10806	SDCCAG8	C0557874	Global developmental delay	0.2	0	0	HPO
10806	SDCCAG8	C0563243	Poor coordination	0.2	0	0	HPO
10806	SDCCAG8	C0683322	Mental impairment	0.2	0	0	HPO
10806	SDCCAG8	C0685840	Congenital hypoplasia of ovary	0.2	0	0	HPO
10806	SDCCAG8	C0687120	Nephronophthisis	0.2	0	0	HPO
10806	SDCCAG8	C0747085	Recurrent otitis media	0.2	0	0	HPO
10806	SDCCAG8	C0752166	Bardet-Biedl Syndrome	0.200549453568426	0	0	ORPHANET
10806	SDCCAG8	C0854723	Retinal Dystrophies	0.2	0	0	HPO
10806	SDCCAG8	C0917816	Mental deficiency	0.2	0	0	HPO
10806	SDCCAG8	C1317785	Tooth size discrepancy	0.2	0	0	HPO
10806	SDCCAG8	C1565489	Renal Insufficiency	0.2	0	0	HPO
10806	SDCCAG8	C1619700	RENAL ADYSPLASIA	0.2	0	0	HPO
10806	SDCCAG8	C1691228	Cystic Kidney Diseases	0.2	1	0	CTD_human
10806	SDCCAG8	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10806	SDCCAG8	C1835452	Hypoplastic ovary	0.2	0	0	HPO
10806	SDCCAG8	C1836150	Gait imbalance	0.2	0	0	HPO
10806	SDCCAG8	C1836189	Radially deviated fingers	0.2	0	0	HPO
10806	SDCCAG8	C1837404	High, narrow palate	0.2	0	0	HPO
10806	SDCCAG8	C1839364	Progressive visual loss	0.2	0	0	HPO
10806	SDCCAG8	C1839604	Renal failure in adulthood	0.2	0	0	HPO
10806	SDCCAG8	C1843367	Poor school performance	0.2	0	0	HPO
10806	SDCCAG8	C1848673	Hypoplastic feet	0.2	0	0	HPO
10806	SDCCAG8	C1853230	Aphakia, congenital primary	0.2	0	0	HPO
10806	SDCCAG8	C1855333	Small genitalia	0.2	0	0	HPO
10806	SDCCAG8	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10806	SDCCAG8	C1864897	Cognitive delay	0.2	0	0	HPO
10806	SDCCAG8	C1866241	Broad feet	0.2	0	0	HPO
10806	SDCCAG8	C2316810	Chronic kidney disease stage 5	0.200274726784213	0	0	HPO
10806	SDCCAG8	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
10806	SDCCAG8	C3536714	Renal dysplasia	0.2	0	0	HPO
10806	SDCCAG8	C3665347	Visual Impairment	0.2	0	0	HPO
10806	SDCCAG8	C3714497	Reactive airway disease	0.2	0	0	HPO
10806	SDCCAG8	C3714581	Multicystic Dysplastic Kidney	0.2	0	0	HPO
10806	SDCCAG8	C3714756	Intellectual Disability	0.2	0	0	HPO
10806	SDCCAG8	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
10806	SDCCAG8	C3887499	Renal cyst	0.200274726784213	0	0	HPO
10806	SDCCAG8	C4020875	Mental and motor retardation	0.2	0	0	HPO
10806	SDCCAG8	C4020876	Dull intelligence	0.2	0	0	HPO
10806	SDCCAG8	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10806	SDCCAG8	C4025790	Specific learning disability	0.2	0	0	HPO
10806	SDCCAG8	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
10806	SDCCAG8	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
10808	HSPH1	C0019693	HIV Infections	0.2	1	0	CTD_human
10809	STARD10	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1081	CGA	C0001621	Adrenal Gland Diseases	0.2	1	0	CTD_human
1081	CGA	C0018991	Hemiplegia	0.2	1	0	CTD_human
1081	CGA	C0028960	Oligospermia	0.2	1	0	CTD_human
1081	CGA	C0029928	Ovarian Diseases	0.2	1	0	CTD_human
1081	CGA	C0042131	Uterine Diseases	0.2	1	0	CTD_human
1081	CGA	C2931367	Thyroid cancer, follicular	0.2	1	0	CTD_human
10810	WASF3	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
10814	CPLX2	C0005586	Bipolar Disorder	0.2	1	0	CTD_human
10814	CPLX2	C0011570	Mental Depression	0.200274726784213	1	0	PSYGENET
10814	CPLX2	C0011581	Depressive disorder	0.200274726784213	1	0	PSYGENET
10814	CPLX2	C0033975	Psychotic Disorders	0.2	1	0	CTD_human
10814	CPLX2	C0036341	Schizophrenia	0.28761248204602	2	0	CTD_human
10815	CPLX1	C0005586	Bipolar Disorder	0.200274726784213	1	0	CTD_human
10815	CPLX1	C0005745	Blepharoptosis	0.2	0	0	HPO
10815	CPLX1	C0008924	Cleft Lip	0.2	0	0	HPO
10815	CPLX1	C0008925	Cleft Palate	0.2	0	0	HPO
10815	CPLX1	C0009081	Congenital clubfoot	0.2	0	0	HPO
10815	CPLX1	C0011570	Mental Depression	0.2	1	0	PSYGENET
10815	CPLX1	C0011581	Depressive disorder	0.2	1	0	PSYGENET
10815	CPLX1	C0014544	Epilepsy	0.2	0	0	HPO
10815	CPLX1	C0015300	Exophthalmos	0.2	0	0	HPO
10815	CPLX1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10815	CPLX1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
10815	CPLX1	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10815	CPLX1	C0018834	Heartburn	0.2	0	0	HPO
10815	CPLX1	C0018916	Hemangioma	0.2	0	0	HPO
10815	CPLX1	C0020534	Orbital separation excessive	0.2	0	0	HPO
10815	CPLX1	C0020608	Hypodontia	0.2	0	0	HPO
10815	CPLX1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10815	CPLX1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
10815	CPLX1	C0024032	Low Birth Weights	0.2	0	0	HPO
10815	CPLX1	C0025990	Micrognathism	0.2	0	0	HPO
10815	CPLX1	C0028738	Nystagmus	0.2	0	0	HPO
10815	CPLX1	C0033975	Psychotic Disorders	0.2	1	0	CTD_human
10815	CPLX1	C0034013	Precocious Puberty	0.2	0	0	HPO
10815	CPLX1	C0036341	Schizophrenia	0.201098907136852	1	0	CTD_human
10815	CPLX1	C0036572	Seizures	0.200274726784213	0	0	HPO
10815	CPLX1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
10815	CPLX1	C0037932	Curvature of spine	0.2	0	0	HPO
10815	CPLX1	C0038271	Stereotyped Behavior	0.2	0	0	HPO
10815	CPLX1	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
10815	CPLX1	C0038379	Strabismus	0.2	0	0	HPO
10815	CPLX1	C0158761	Radioulnar Synostosis	0.2	0	0	HPO
10815	CPLX1	C0231246	Failure to gain weight	0.2	0	0	HPO
10815	CPLX1	C0231791	Toeing-in	0.2	0	0	HPO
10815	CPLX1	C0235659	Reduced fetal movement	0.2	0	0	HPO
10815	CPLX1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
10815	CPLX1	C0239676	High forehead	0.2	0	0	HPO
10815	CPLX1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10815	CPLX1	C0240538	Convex nasal ridge	0.2	0	0	HPO
10815	CPLX1	C0265341	Rieger syndrome	0.2	0	0	HPO
10815	CPLX1	C0266610	Preauricular dimple	0.2	0	0	HPO
10815	CPLX1	C0266625	Preauricular sinus	0.2	0	0	HPO
10815	CPLX1	C0266631	Accessory spleen	0.2	0	0	HPO
10815	CPLX1	C0349588	Short stature	0.2	0	0	HPO
10815	CPLX1	C0395837	Stenosis of external auditory canal	0.2	0	0	HPO
10815	CPLX1	C0424688	Small head	0.2	0	0	HPO
10815	CPLX1	C0431371	Absence of septum pellucidum	0.2	0	0	HPO
10815	CPLX1	C0431483	Simple ear	0.2	0	0	HPO
10815	CPLX1	C0541764	Delayed bone age	0.2	0	0	HPO
10815	CPLX1	C0546969	Preauricular Fistulae, Congenital	0.2	0	0	HPO
10815	CPLX1	C0557874	Global developmental delay	0.2	0	0	HPO
10815	CPLX1	C0576860	Narrowing of ear canal	0.2	0	0	HPO
10815	CPLX1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10815	CPLX1	C0700208	Acquired scoliosis	0.2	0	0	HPO
10815	CPLX1	C0857379	Auricular malformation	0.2	0	0	HPO
10815	CPLX1	C1271219	Congenital ectopic pupil	0.2	0	0	HPO
10815	CPLX1	C1386048	Intrauterine retardation	0.2	0	0	HPO
10815	CPLX1	C1835763	Vertebral body fusion	0.2	0	0	HPO
10815	CPLX1	C1837108	Decreased muscle mass	0.2	0	0	HPO
10815	CPLX1	C1837760	Prominent eyes	0.2	0	0	HPO
10815	CPLX1	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
10815	CPLX1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10815	CPLX1	C1839858	Periventricular cysts	0.2	0	0	HPO
10815	CPLX1	C1840380	Persistent cavum septum pellucidum	0.2	0	0	HPO
10815	CPLX1	C1844749	Rib fusion	0.2	0	0	HPO
10815	CPLX1	C1844825	Hyperconvex fingernails	0.2	0	0	HPO
10815	CPLX1	C1845112	Hyperkyphosis	0.2	0	0	HPO
10815	CPLX1	C1848490	Protruding eyes	0.2	0	0	HPO
10815	CPLX1	C1848977	Short upper lip	0.2	0	0	HPO
10815	CPLX1	C1849073	Fused vertebrae	0.2	0	0	HPO
10815	CPLX1	C1849367	Nasal bridge wide	0.2	0	0	HPO
10815	CPLX1	C1853237	Isolated cases	0.2	0	0	HPO
10815	CPLX1	C1855728	Low posterior hairline	0.2	0	0	HPO
10815	CPLX1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10815	CPLX1	C1857641	Severe postnatal growth retardation	0.2	0	0	HPO
10815	CPLX1	C1858120	Generalized hypotonia	0.2	0	0	HPO
10815	CPLX1	C1860243	Sternal ossification center abnormalities	0.2	0	0	HPO
10815	CPLX1	C1860244	Malrotation of small bowel	0.2	0	0	HPO
10815	CPLX1	C1860247	Prominent glabella	0.2	0	0	HPO
10815	CPLX1	C1860253	Accessory proximal metacarpal ossification centers	0.2	0	0	HPO
10815	CPLX1	C1860816	Preauricular skin tag	0.2	0	0	HPO
10815	CPLX1	C1861324	Short philtrum	0.2	0	0	HPO
10815	CPLX1	C1862425	Prominent globes	0.2	0	0	HPO
10815	CPLX1	C1864897	Cognitive delay	0.2	0	0	HPO
10815	CPLX1	C1866195	Downturned corners of mouth	0.2	0	0	HPO
10815	CPLX1	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
10815	CPLX1	C1968999	Rib segmentation abnormalities	0.2	0	0	HPO
10815	CPLX1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
10815	CPLX1	C2677762	Tall forehead	0.2	0	0	HPO
10815	CPLX1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10815	CPLX1	C3278509	Spinal fusion	0.2	0	0	HPO
10815	CPLX1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10815	CPLX1	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
10815	CPLX1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10815	CPLX1	C4025320	Craniofacial asymmetry	0.2	0	0	HPO
10815	CPLX1	C4072826	Skin tag on the posterior cheek	0.2	0	0	HPO
10815	CPLX1	C4082169	Metatarsus Varus	0.2	0	0	HPO
10840	ALDH1L1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10840	ALDH1L1	C0028754	Obesity	0.2	1	0	CTD_human
10840	ALDH1L1	C0242184	Hypoxia	0.2	1	0	CTD_human
10841	FTCD	C0002888	Anemia, Megaloblastic	0.200274726784213	0	0	HPO
10841	FTCD	C0006413	Burkitt Lymphoma	0.2	1	0	CTD_human
10841	FTCD	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10841	FTCD	C0025362	Mental Retardation	0.2	0	0	HPO
10841	FTCD	C0151686	Growth retardation	0.2	0	0	HPO
10841	FTCD	C0238621	Aminoaciduria	0.2	0	0	HPO
10841	FTCD	C0268609	Glutamate formiminotransferase deficiency	0.600274726784213	1	6	CTD_human;ORPHANET;UNIPROT
10841	FTCD	C0423903	Low intelligence	0.2	0	0	HPO
10841	FTCD	C0456070	Growth delay	0.2	0	0	HPO
10841	FTCD	C0878787	Growth failure	0.2	0	0	HPO
10841	FTCD	C0917816	Mental deficiency	0.2	0	0	HPO
10841	FTCD	C1837385	Poor growth	0.2	0	0	HPO
10841	FTCD	C1843367	Poor school performance	0.2	0	0	HPO
10841	FTCD	C3552463	Very poor growth	0.2	0	0	HPO
10841	FTCD	C3714756	Intellectual Disability	0.2	0	0	HPO
10841	FTCD	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
10841	FTCD	C4020876	Dull intelligence	0.2	0	0	HPO
10841	FTCD	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10841	FTCD	C4025288	Hypersegmentation of neutrophil nuclei	0.2	0	0	HPO
10841	FTCD	C4025589	Positive ferric chloride test	0.2	0	0	HPO
10842	PPP1R17	C0745103	Hyperlipoproteinemia Type IIa	0.2	0	0	CTD_human
10846	PDE10A	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
10846	PDE10A	C0005586	Bipolar Disorder	0.200824180352639	1	1	PSYGENET
10846	PDE10A	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
10846	PDE10A	C0349204	Nonorganic psychosis	0.200274726784213	1	0	PSYGENET
10847	SRCAP	C0007570	Celiac Disease	0.2	0	0	HPO
10847	SRCAP	C0009806	Constipation	0.2	0	0	HPO
10847	SRCAP	C0010606	Adenoid Cystic Carcinoma	0.2	1	0	CTD_human
10847	SRCAP	C0014306	Enophthalmos	0.2	0	0	HPO
10847	SRCAP	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
10847	SRCAP	C0019572	Hirsutism	0.2	0	0	HPO
10847	SRCAP	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
10847	SRCAP	C0024433	Macrostomia	0.2	0	0	HPO
10847	SRCAP	C0025362	Mental Retardation	0.2	0	0	HPO
10847	SRCAP	C0037822	Speech Disorders	0.200274726784213	0	0	HPO
10847	SRCAP	C0086437	Joint laxity	0.2	0	0	HPO
10847	SRCAP	C0162298	Joint stiffness	0.2	0	0	HPO
10847	SRCAP	C0221357	Brachydactyly	0.2	0	0	HPO
10847	SRCAP	C0237326	Dyschezia	0.2	0	0	HPO
10847	SRCAP	C0240543	Bulbous nose	0.2	0	0	HPO
10847	SRCAP	C0241703	High pitched voice	0.2	0	0	HPO
10847	SRCAP	C0349588	Short stature	0.2	0	0	HPO
10847	SRCAP	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
10847	SRCAP	C0423224	Sunken eyes	0.2	0	0	HPO
10847	SRCAP	C0423903	Low intelligence	0.2	0	0	HPO
10847	SRCAP	C0426415	Large nose	0.2	0	0	HPO
10847	SRCAP	C0426799	Congenital hypoplasia of clavicle	0.2	0	0	HPO
10847	SRCAP	C0426806	Bipartite clavicle	0.2	0	0	HPO
10847	SRCAP	C0426811	Pseudoarthrosis of clavicle	0.2	0	0	HPO
10847	SRCAP	C0426891	Broad thumbs	0.2	0	0	HPO
10847	SRCAP	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
10847	SRCAP	C0454555	Hypernasal voice	0.2	0	0	HPO
10847	SRCAP	C0454641	Expressive language delay	0.2	0	0	HPO
10847	SRCAP	C0521525	Short neck	0.2	0	0	HPO
10847	SRCAP	C0541764	Delayed bone age	0.2	0	0	HPO
10847	SRCAP	C0557874	Global developmental delay	0.2	0	0	HPO
10847	SRCAP	C0566620	Nasal voice	0.2	0	0	HPO
10847	SRCAP	C0578038	Thin lips	0.2	0	0	HPO
10847	SRCAP	C0729582	Floating-harbor syndrome	0.201648360705279	0	0	ORPHANET
10847	SRCAP	C0747085	Recurrent otitis media	0.2	0	0	HPO
10847	SRCAP	C0917816	Mental deficiency	0.2	0	0	HPO
10847	SRCAP	C1142533	Smooth philtrum	0.2	0	0	HPO
10847	SRCAP	C1386048	Intrauterine retardation	0.2	0	0	HPO
10847	SRCAP	C1400105	Hypertrophy of nose	0.2	0	0	HPO
10847	SRCAP	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
10847	SRCAP	C1834118	Potato nose	0.2	0	0	HPO
10847	SRCAP	C1835884	Triangular face	0.2	0	0	HPO
10847	SRCAP	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10847	SRCAP	C1843367	Poor school performance	0.2	0	0	HPO
10847	SRCAP	C1847610	Deficit in expressive language	0.2	0	0	HPO
10847	SRCAP	C1849211	Generalized hirsutism	0.2	0	0	HPO
10847	SRCAP	C1849367	Nasal bridge wide	0.2	0	0	HPO
10847	SRCAP	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
10847	SRCAP	C1851059	Wide columella	0.2	0	0	HPO
10847	SRCAP	C1853738	Long eyelashes	0.2	0	0	HPO
10847	SRCAP	C1855728	Low posterior hairline	0.2	0	0	HPO
10847	SRCAP	C1855751	Bulbous nasal tip	0.2	0	0	HPO
10847	SRCAP	C1859111	Enlarged joints	0.2	0	0	HPO
10847	SRCAP	C1859480	Cone-shaped epiphyses of phalanges	0.2	0	0	HPO
10847	SRCAP	C1861324	Short philtrum	0.2	0	0	HPO
10847	SRCAP	C1864897	Cognitive delay	0.2	0	0	HPO
10847	SRCAP	C1866195	Downturned corners of mouth	0.2	0	0	HPO
10847	SRCAP	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10847	SRCAP	C3553764	Joint hyperflexibility	0.2	0	0	HPO
10847	SRCAP	C3714745	Malabsorption	0.2	0	0	HPO
10847	SRCAP	C3714756	Intellectual Disability	0.2	0	0	HPO
10847	SRCAP	C4020875	Mental and motor retardation	0.2	0	0	HPO
10847	SRCAP	C4020876	Dull intelligence	0.2	0	0	HPO
10847	SRCAP	C4021984	Abnormality of the soft palate	0.2	0	0	HPO
10847	SRCAP	C4280365	Hyperplasia of columella	0.2	0	0	HPO
10847	SRCAP	C4280538	Curvature of little finger	0.2	0	0	HPO
10847	SRCAP	C4280573	Communication delay	0.2	0	0	HPO
10847	SRCAP	C4280629	Hyperplasia of nose	0.2	0	0	HPO
10848	PPP1R13L	C0023418	leukemia	0.2	1	0	CTD_human
10857	PGRMC1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10858	CYP46A1	C0002395	Alzheimer's Disease	0.262723536431733	1	0	CTD_human
10859	LILRB1	C0036341	Schizophrenia	0.200549453568426	1	0	PSYGENET
10861	SLC26A1	C0020500	Hyperoxaluria	0.400549453568426	1	0	CTD_human;HPO
10861	SLC26A1	C0027709	Nephrocalcinosis	0.2	1	0	CTD_human
10861	SLC26A1	C0451641	Urolithiasis	0.200274726784213	2	0	CTD_human
10861	SLC26A1	C1833683	NEPHROLITHIASIS, CALCIUM OXALATE	0.400274726784213	1	2	HPO;UNIPROT
10861	SLC26A1	C4280806	Calcium oxalate kidney stones	0.2	0	0	HPO
10863	ADAM28	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
10875	FGL2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10875	FGL2	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
10877	CFHR4	C2749604	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	0.2	0	0	ORPHANET
10887	PROKR1	C0020429	Hyperalgesia	0.2	1	0	CTD_human
10887	PROKR1	C0030193	Pain	0.2	1	0	CTD_human
10891	PPARGC1A	C0002736	Amyotrophic Lateral Sclerosis	0.401648360705279	0	0	HPO;ORPHANET
10891	PPARGC1A	C0003467	Anxiety	0.200274726784213	0	0	HPO
10891	PPARGC1A	C0006079	Bowen's Disease	0.2	1	0	CTD_human
10891	PPARGC1A	C0011581	Depressive disorder	0.200274726784213	0	0	HPO
10891	PPARGC1A	C0011853	Diabetes Mellitus, Experimental	0.28	1	0	CTD_human
10891	PPARGC1A	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.372302712726192	2	0	CTD_human
10891	PPARGC1A	C0013404	Dyspnea	0.2	0	0	HPO
10891	PPARGC1A	C0015672	Fatigue	0.2	0	0	HPO
10891	PPARGC1A	C0018801	Heart failure	0.201373633921065	2	0	CTD_human
10891	PPARGC1A	C0026821	Muscle Cramp	0.2	0	0	HPO
10891	PPARGC1A	C0026838	Muscle Spasticity	0.2	0	0	HPO
10891	PPARGC1A	C0026851	Muscular Dystrophy, Animal	0.2	1	0	CTD_human
10891	PPARGC1A	C0027051	Myocardial Infarction	0.28	1	0	CTD_human
10891	PPARGC1A	C0027746	Nerve Degeneration	0.2	0	0	HPO
10891	PPARGC1A	C0030193	Pain	0.2	0	0	HPO
10891	PPARGC1A	C0036341	Schizophrenia	0.200549453568426	1	1	PSYGENET
10891	PPARGC1A	C0043352	Xerostomia	0.2	0	0	HPO
10891	PPARGC1A	C0085633	Mood swings	0.2	0	0	HPO
10891	PPARGC1A	C0234958	muscle degeneration	0.2	0	0	HPO
10891	PPARGC1A	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
10891	PPARGC1A	C0522224	Paralysed	0.2	0	0	HPO
10891	PPARGC1A	C0524851	Neurodegenerative Disorders	0.202472541057918	0	0	HPO
10891	PPARGC1A	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
10891	PPARGC1A	C0746674	Generalized muscle weakness	0.2	0	0	HPO
10891	PPARGC1A	C1145670	Respiratory Failure	0.2	0	0	HPO
10891	PPARGC1A	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
10891	PPARGC1A	C2931673	Ceroid lipofuscinosis, neuronal 1, infantile	0.2	1	0	CTD_human
10891	PPARGC1A	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
10891	PPARGC1A	C4020884	Anxiety disease	0.2	0	0	HPO
10891	PPARGC1A	C4022587	Fatigable weakness of respiratory muscles	0.2	0	0	HPO
10891	PPARGC1A	C4022588	Fatigable weakness of swallowing muscles	0.2	0	0	HPO
10892	MALT1	C0002871	Anemia	0.2	0	0	HPO
10892	MALT1	C0009806	Constipation	0.2	0	0	HPO
10892	MALT1	C0015672	Fatigue	0.2	0	0	HPO
10892	MALT1	C0015967	Fever	0.2	0	0	HPO
10892	MALT1	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
10892	MALT1	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
10892	MALT1	C0027498	Nausea and vomiting	0.2	0	0	HPO
10892	MALT1	C0038990	Sweating	0.2	0	0	HPO
10892	MALT1	C0079731	B-Cell Lymphomas	0.212883448103381	0	0	HPO
10892	MALT1	C0079744	Diffuse Large B-Cell Lymphoma	0.20439562854741	1	0	CTD_human
10892	MALT1	C0151686	Growth retardation	0.2	0	0	HPO
10892	MALT1	C0162119	Hemoglobin low	0.2	0	0	HPO
10892	MALT1	C0235896	Infiltrate of lung	0.2	0	0	HPO
10892	MALT1	C0237326	Dyschezia	0.2	0	0	HPO
10892	MALT1	C0242647	Mucosa-Associated Lymphoid Tissue Lymphoma	0.256109924455883	0	0	ORPHANET
10892	MALT1	C0456070	Growth delay	0.2	0	0	HPO
10892	MALT1	C0700590	Increased sweating	0.2	0	0	HPO
10892	MALT1	C0878787	Growth failure	0.2	0	0	HPO
10892	MALT1	C1262477	Weight decreased	0.2	0	0	HPO
10892	MALT1	C1837066	Recurrent viral infections	0.2	0	0	HPO
10892	MALT1	C1837385	Poor growth	0.2	0	0	HPO
10892	MALT1	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
10892	MALT1	C1850900	Familial primary gastric lymphoma	0.212637432073803	0	0	ORPHANET
10892	MALT1	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
10892	MALT1	C3552463	Very poor growth	0.2	0	0	HPO
10892	MALT1	C3809583	IMMUNODEFICIENCY 12	0.4	1	2	ORPHANET;UNIPROT
10892	MALT1	C4020846	Prone to bacterial infection	0.2	0	0	HPO
10892	MALT1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10893	MMP24	C0027627	Neoplasm Metastasis	0.2	1	0	CTD_human
10897	YIF1A	C0023903	Liver neoplasms	0.2	1	0	CTD_human
10897	YIF1A	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
109	ADCY3	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
109	ADCY3	C0011875	Diabetic Angiopathies	0.2	1	0	CTD_human
109	ADCY3	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
10902	BRD8	C0014175	Endometriosis	0.2	1	0	CTD_human
10906	TRAFD1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10907	TXNL4A	C0005744	Blepharophimosis	0.2	0	0	HPO
10907	TXNL4A	C0008297	Choanal Atresia	0.2	0	0	HPO
10907	TXNL4A	C0008924	Cleft Lip	0.2	0	0	HPO
10907	TXNL4A	C0008925	Cleft Palate	0.2	0	0	HPO
10907	TXNL4A	C0018777	Conductive hearing loss	0.2	0	0	HPO
10907	TXNL4A	C0018816	Heart Septal Defects	0.2	0	0	HPO
10907	TXNL4A	C0018817	Atrial Septal Defects	0.2	0	0	HPO
10907	TXNL4A	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
10907	TXNL4A	C0020534	Orbital separation excessive	0.2	0	0	HPO
10907	TXNL4A	C0025990	Micrognathism	0.2	0	0	HPO
10907	TXNL4A	C0026034	Microstomia	0.2	0	0	HPO
10907	TXNL4A	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10907	TXNL4A	C0266122	Cleft uvula	0.2	0	0	HPO
10907	TXNL4A	C0266295	Congenital hypoplasia of kidney	0.2	0	0	HPO
10907	TXNL4A	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
10907	TXNL4A	C0399526	Class III malocclusion	0.2	0	0	HPO
10907	TXNL4A	C0423112	Short palpebral fissure	0.2	0	0	HPO
10907	TXNL4A	C0432040	Simple syndactyly of toes, first web space	0.2	0	0	HPO
10907	TXNL4A	C0578038	Thin lips	0.2	0	0	HPO
10907	TXNL4A	C0813217	Expressionless face	0.2	0	0	HPO
10907	TXNL4A	C1305420	Prominent ear	0.2	0	0	HPO
10907	TXNL4A	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
10907	TXNL4A	C1837822	Burn-Mckeown syndrome	0.200549453568426	0	0	ORPHANET
10907	TXNL4A	C1837826	Lower eyelid coloboma	0.2	0	0	HPO
10907	TXNL4A	C1854113	Prominent nasal bridge	0.2	0	0	HPO
10907	TXNL4A	C1855285	Protruding ears	0.2	0	0	HPO
10907	TXNL4A	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10907	TXNL4A	C1860816	Preauricular skin tag	0.2	0	0	HPO
10907	TXNL4A	C1861324	Short philtrum	0.2	0	0	HPO
10907	TXNL4A	C1862474	Decreased facial expression	0.2	0	0	HPO
10907	TXNL4A	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
10907	TXNL4A	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
10907	TXNL4A	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10907	TXNL4A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10907	TXNL4A	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
10907	TXNL4A	C4021884	Bilateral choanal atresia/stenosis	0.2	0	0	HPO
10907	TXNL4A	C4025317	Bilateral choanal atresia	0.2	0	0	HPO
10907	TXNL4A	C4072826	Skin tag on the posterior cheek	0.2	0	0	HPO
10907	TXNL4A	C4230640	Convex nasal bridge	0.2	0	0	HPO
10907	TXNL4A	C4280635	Decreased facial muscle movement	0.2	0	0	HPO
10907	TXNL4A	C4280644	Increased size of mandible	0.2	0	0	HPO
10907	TXNL4A	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
10908	PNPLA6	C0007758	Cerebellar Ataxia	0.200274726784213	0	0	HPO
10908	PNPLA6	C0010417	Cryptorchidism	0.2	0	0	HPO
10908	PNPLA6	C0013336	Dwarfism	0.2	0	0	HPO
10908	PNPLA6	C0018418	Gynecomastia	0.2	0	0	HPO
10908	PNPLA6	C0018564	Hand deformities	0.2	0	0	HPO
10908	PNPLA6	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
10908	PNPLA6	C0023138	Laurence-Moon Syndrome	0.4	1	1	ORPHANET;UNIPROT
10908	PNPLA6	C0024032	Low Birth Weights	0.2	0	0	HPO
10908	PNPLA6	C0025362	Mental Retardation	0.2	0	0	HPO
10908	PNPLA6	C0026827	Muscle hypotonia	0.2	0	0	HPO
10908	PNPLA6	C0027765	nervous system disorder	0.2	1	0	CTD_human
10908	PNPLA6	C0028738	Nystagmus	0.2	0	0	HPO
10908	PNPLA6	C0028754	Obesity	0.2	0	0	HPO
10908	PNPLA6	C0029124	Optic Atrophy	0.2	0	0	HPO
10908	PNPLA6	C0031117	Peripheral Neuropathy	0.2	1	0	CTD_human
10908	PNPLA6	C0034012	Delayed Puberty	0.2	0	0	HPO
10908	PNPLA6	C0034935	Babinski Reflex	0.2	0	0	HPO
10908	PNPLA6	C0035078	Kidney Failure	0.2	0	0	HPO
10908	PNPLA6	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	HPO
10908	PNPLA6	C0037050	Sick Building Syndrome	0.200274726784213	1	0	CTD_human
10908	PNPLA6	C0037772	Spastic Paraplegia	0.200824180352639	0	0	HPO
10908	PNPLA6	C0037773	Spastic Paraplegia, Hereditary	0.201648360705279	1	0	CTD_human
10908	PNPLA6	C0037822	Speech Disorders	0.2	0	0	HPO
10908	PNPLA6	C0085084	Motor Neuron Disease	0.203831819601666	2	0	CTD_human
10908	PNPLA6	C0085636	Photophobia	0.2	0	0	HPO
10908	PNPLA6	C0087012	Ataxia, Spinocerebellar	0.2	0	0	HPO
10908	PNPLA6	C0151889	Hyperreflexia	0.2	0	0	HPO
10908	PNPLA6	C0152025	Polyneuropathy	0.2	1	0	CTD_human
10908	PNPLA6	C0158733	Hand polydactyly	0.2	0	0	HPO
10908	PNPLA6	C0221352	Syndactyly of fingers	0.2	0	0	HPO
10908	PNPLA6	C0234146	Absent reflex	0.2	0	0	HPO
10908	PNPLA6	C0234376	Action Tremor	0.2	0	0	HPO
10908	PNPLA6	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
10908	PNPLA6	C0240897	Retinal exudates	0.2	0	0	HPO
10908	PNPLA6	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
10908	PNPLA6	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10908	PNPLA6	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
10908	PNPLA6	C0270921	Axonal neuropathy	0.2	0	0	HPO
10908	PNPLA6	C0271623	Hypogonadotropic hypogonadism	0.200274726784213	0	0	HPO
10908	PNPLA6	C0278124	Absent tendon reflex	0.2	0	0	HPO
10908	PNPLA6	C0278184	Scanning speech	0.2	0	0	HPO
10908	PNPLA6	C0349588	Short stature	0.2	0	0	HPO
10908	PNPLA6	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
10908	PNPLA6	C0423903	Low intelligence	0.2	0	0	HPO
10908	PNPLA6	C0427065	Distal muscle weakness	0.2	0	0	HPO
10908	PNPLA6	C0431659	Hypoplasia of scrotum	0.2	0	0	HPO
10908	PNPLA6	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
10908	PNPLA6	C0520927	Decreased fertility	0.2	0	0	HPO
10908	PNPLA6	C0522198	Explosive speech	0.2	0	0	HPO
10908	PNPLA6	C0575081	Gait abnormality	0.2	0	0	HPO
10908	PNPLA6	C0700078	Decreased tendon reflex	0.2	0	0	HPO
10908	PNPLA6	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10908	PNPLA6	C0854723	Retinal Dystrophies	0.200274726784213	0	0	HPO
10908	PNPLA6	C0917816	Mental deficiency	0.2	0	0	HPO
10908	PNPLA6	C1263857	Peripheral axonal neuropathy	0.2	0	0	HPO
10908	PNPLA6	C1389102	Atrophic spinal cord	0.2	0	0	HPO
10908	PNPLA6	C1565489	Renal Insufficiency	0.2	0	0	HPO
10908	PNPLA6	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
10908	PNPLA6	C1833999	Pigmentary retinal degeneration	0.2	0	0	HPO
10908	PNPLA6	C1836450	Distal lower limb muscle weakness	0.2	0	0	HPO
10908	PNPLA6	C1837514	Phenotypic variability	0.2	0	0	HPO
10908	PNPLA6	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
10908	PNPLA6	C1839364	Progressive visual loss	0.2	0	0	HPO
10908	PNPLA6	C1839604	Renal failure in adulthood	0.2	0	0	HPO
10908	PNPLA6	C1843367	Poor school performance	0.2	0	0	HPO
10908	PNPLA6	C1848736	Distal amyotrophy	0.2	0	0	HPO
10908	PNPLA6	C1848745	Oliver-McFarlane syndrome	0.400549453568426	1	3	ORPHANET;UNIPROT
10908	PNPLA6	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
10908	PNPLA6	C1853738	Long eyelashes	0.2	0	0	HPO
10908	PNPLA6	C1855483	Progressive spastic paraplegia	0.2	0	0	HPO
10908	PNPLA6	C1857627	Chorioretinal dystrophy	0.200274726784213	0	0	HPO
10908	PNPLA6	C1859093	Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	0.401373633921066	2	7	ORPHANET;UNIPROT
10908	PNPLA6	C1859305	Cerebellar Ataxia and Hypogonadotropic Hypogonadism	0.200549453568426	0	0	ORPHANET
10908	PNPLA6	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
10908	PNPLA6	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
10908	PNPLA6	C1864985	Progressive disorder	0.2	0	0	HPO
10908	PNPLA6	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
10908	PNPLA6	C2677586	Spastic Paraplegia 39, Autosomal Recessive	0.601098907136852	2	5	CTD_human;ORPHANET;UNIPROT
10908	PNPLA6	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
10908	PNPLA6	C3280131	Long eyebrows	0.2	0	0	HPO
10908	PNPLA6	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
10908	PNPLA6	C3714756	Intellectual Disability	0.2	0	0	HPO
10908	PNPLA6	C3714796	Isolated somatotropin deficiency	0.2	0	0	HPO
10908	PNPLA6	C4020856	Terminal tremor	0.2	0	0	HPO
10908	PNPLA6	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10908	PNPLA6	C4020876	Dull intelligence	0.2	0	0	HPO
10908	PNPLA6	C4020887	Photodysphoria	0.2	0	0	HPO
10908	PNPLA6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10908	PNPLA6	C4021567	Central heterochromia	0.2	0	0	HPO
10908	PNPLA6	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
10908	PNPLA6	C4024167	Abnormality of the antitragus	0.2	0	0	HPO
10908	PNPLA6	C4025819	Abnormality of the hypothalamus-pituitary axis	0.2	0	0	HPO
10911	UTS2	C0020538	Hypertensive disease	0.206238848124954	1	0	CTD_human
10911	UTS2	C0026650	Movement Disorders	0.2	1	0	CTD_human
10911	UTS2	C0043049	Water Intoxication	0.2	1	0	CTD_human
10911	UTS2	C0428977	Bradycardia	0.2	1	0	CTD_human
10911	UTS2	C4042784	Feeding and Eating Disorders	0.2	1	0	CTD_human
10916	MAGED2	C1866495	Bartter syndrome, antenatal type 1	0.2	0	0	ORPHANET
10919	EHMT2	C0021359	Infertility	0.2	1	0	CTD_human
10919	EHMT2	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
10919	EHMT2	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
10919	EHMT2	C0027627	Neoplasm Metastasis	0.2	2	0	CTD_human
10919	EHMT2	C0236736	Cocaine-Related Disorders	0.2	1	0	CTD_human
10919	EHMT2	C0266999	Vesicular Stomatitis	0.2	1	0	CTD_human
10919	EHMT2	C0677886	Epithelial ovarian cancer	0.2	1	0	CTD_human
10921	RNPS1	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
10924	SMPDL3A	C0014175	Endometriosis	0.2	1	0	CTD_human
10928	RALBP1	C0020538	Hypertensive disease	0.2	1	0	CTD_human
10928	RALBP1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10928	RALBP1	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10933	MORF4L1	C0010606	Adenoid Cystic Carcinoma	0.2	1	0	CTD_human
10935	PRDX3	C0029456	Osteoporosis	0.2	1	0	CTD_human
10935	PRDX3	C0079744	Diffuse Large B-Cell Lymphoma	0.2	1	0	CTD_human
10935	PRDX3	C0085084	Motor Neuron Disease	0.200274726784213	1	0	CTD_human
10939	AFG3L2	C0005745	Blepharoptosis	0.200274726784213	0	0	HPO
10939	AFG3L2	C0011168	Deglutition Disorders	0.2	0	0	HPO
10939	AFG3L2	C0013362	Dysarthria	0.2	0	0	HPO
10939	AFG3L2	C0013421	Dystonia	0.2	0	0	HPO
10939	AFG3L2	C0014550	Epilepsies, Myoclonic	0.2	0	0	HPO
10939	AFG3L2	C0026838	Muscle Spasticity	0.200274726784213	0	0	HPO
10939	AFG3L2	C0027066	Myoclonus	0.200274726784213	0	0	HPO
10939	AFG3L2	C0034935	Babinski Reflex	0.2	0	0	HPO
10939	AFG3L2	C0037771	Paraparesis, Spastic	0.2	0	0	HPO
10939	AFG3L2	C0087012	Ataxia, Spinocerebellar	0.200274726784213	1	0	CTD_human
10939	AFG3L2	C0151786	Muscle Weakness	0.2	0	0	HPO
10939	AFG3L2	C0234162	Cerebellar Dysmetria	0.2	0	0	HPO
10939	AFG3L2	C0234958	muscle degeneration	0.2	0	0	HPO
10939	AFG3L2	C0234979	Dysdiadochokinesis	0.2	0	0	HPO
10939	AFG3L2	C0262404	Cerebellar degeneration	0.2	0	0	HPO
10939	AFG3L2	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
10939	AFG3L2	C0271390	Nystagmus, End-Position	0.2	0	0	HPO
10939	AFG3L2	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
10939	AFG3L2	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
10939	AFG3L2	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
10939	AFG3L2	C0750937	Ataxia, Appendicular	0.2	0	0	HPO
10939	AFG3L2	C0751401	Ophthalmoparesis	0.2	0	0	HPO
10939	AFG3L2	C0751778	Myoclonic Epilepsies, Progressive	0.4	1	0	CTD_human;HPO
10939	AFG3L2	C0751837	Gait Ataxia	0.2	0	0	HPO
10939	AFG3L2	C1112256	Peripheral sensorimotor neuropathy	0.2	0	0	HPO
10939	AFG3L2	C1321329	Slowed saccades	0.2	0	0	HPO
10939	AFG3L2	C1836392	Dysmetric saccades	0.2	0	0	HPO
10939	AFG3L2	C1836696	Lower limb hyperreflexia	0.2	0	0	HPO
10939	AFG3L2	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
10939	AFG3L2	C1848924	Infantile onset	0.2	0	0	HPO
10939	AFG3L2	C1849156	Spastic Ataxia	0.200549453568426	0	0	HPO
10939	AFG3L2	C1853249	SPINOCEREBELLAR ATAXIA 28	0.681648360705279	5	11	CTD_human;ORPHANET;UNIPROT
10939	AFG3L2	C1854494	Slow progression	0.2	0	0	HPO
10939	AFG3L2	C1861403	Variable expressivity	0.2	0	0	HPO
10939	AFG3L2	C1864985	Progressive disorder	0.2	0	0	HPO
10939	AFG3L2	C1866862	Highly variable severity	0.2	0	0	HPO
10939	AFG3L2	C3280977	SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	0.4	1	3	ORPHANET;UNIPROT
10939	AFG3L2	C3489733	Oculomotor apraxia	0.2	0	0	HPO
10939	AFG3L2	C4020730	Increased intramyocellular lipid droplets	0.2	0	0	HPO
10939	AFG3L2	C4020871	Dystonic disease	0.2	0	0	HPO
10939	AFG3L2	C4020873	Infratentorial atrophy	0.2	0	0	HPO
10939	AFG3L2	C4020886	Defective or absent horizontal voluntary eye movements	0.2	0	0	HPO
10939	AFG3L2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10939	AFG3L2	C4021759	Generalized myoclonic seizures	0.2	0	0	HPO
10940	POP1	C1846796	Anauxetic dysplasia	0.200274726784213	0	0	ORPHANET
10945	KDELR1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10946	SF3A3	C0019693	HIV Infections	0.2	1	0	CTD_human
10948	STARD3	C0033578	Prostatic Neoplasms	0.2	2	0	CTD_human
10948	STARD3	C3496069	cocaine use	0.2	1	0	PSYGENET
10950	BTG3	C0007134	Renal Cell Carcinoma	0.200274726784213	1	0	CTD_human
10950	BTG3	C3495559	Juvenile arthritis	0.200274726784213	1	0	CTD_human
10951	CBX1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10955	SERINC3	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10959	TMED2	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10961	ERP29	C0027627	Neoplasm Metastasis	0.2	1	0	CTD_human
10961	ERP29	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
10961	ERP29	C0152013	Adenocarcinoma of lung (disorder)	0.2	1	0	CTD_human
10961	ERP29	C2239176	Liver carcinoma	0.2	1	0	CTD_human
10962	MLLT11	C0349639	Juvenile Myelomonocytic Leukemia	0.2	0	0	HPO
10962	MLLT11	C0544886	Somatic mutation	0.2	0	0	HPO
10963	STIP1	C0011581	Depressive disorder	0.2	1	0	PSYGENET
10963	STIP1	C0025202	melanoma	0.2	1	0	CTD_human
10964	IFI44L	C0021400	Influenza	0.2	1	0	CTD_human
10965	ACOT2	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
10966	RAB40B	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10971	YWHAQ	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10973	ASCC3	C3714756	Intellectual Disability	0.2	1	0	CTD_human
10975	UQCR11	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
10978	CLP1	C0010417	Cryptorchidism	0.2	0	0	HPO
10978	CLP1	C0014877	Esotropia	0.2	0	0	HPO
10978	CLP1	C0015300	Exophthalmos	0.2	0	0	HPO
10978	CLP1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10978	CLP1	C0026838	Muscle Spasticity	0.2	0	0	HPO
10978	CLP1	C0028738	Nystagmus	0.2	0	0	HPO
10978	CLP1	C0085584	Encephalopathies	0.2	0	0	HPO
10978	CLP1	C0151686	Growth retardation	0.2	0	0	HPO
10978	CLP1	C0151889	Hyperreflexia	0.2	0	0	HPO
10978	CLP1	C0235946	Cerebral atrophy	0.2	0	0	HPO
10978	CLP1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
10978	CLP1	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
10978	CLP1	C0424688	Small head	0.2	0	0	HPO
10978	CLP1	C0426414	Small nose	0.2	0	0	HPO
10978	CLP1	C0456070	Growth delay	0.2	0	0	HPO
10978	CLP1	C0557874	Global developmental delay	0.2	0	0	HPO
10978	CLP1	C0746940	nonverbal	0.2	0	0	HPO
10978	CLP1	C0878787	Growth failure	0.2	0	0	HPO
10978	CLP1	C1277241	Delayed myelination	0.2	0	0	HPO
10978	CLP1	C1445953	Poor eye contact	0.2	0	0	HPO
10978	CLP1	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
10978	CLP1	C1837385	Poor growth	0.2	0	0	HPO
10978	CLP1	C1837760	Prominent eyes	0.2	0	0	HPO
10978	CLP1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
10978	CLP1	C1848490	Protruding eyes	0.2	0	0	HPO
10978	CLP1	C1849340	Long palpebral fissure	0.2	0	0	HPO
10978	CLP1	C1849367	Nasal bridge wide	0.2	0	0	HPO
10978	CLP1	C1850456	Progressive microcephaly	0.2	0	0	HPO
10978	CLP1	C1853738	Long eyelashes	0.2	0	0	HPO
10978	CLP1	C1854114	Short nose	0.2	0	0	HPO
10978	CLP1	C1854882	Absent speech	0.2	0	0	HPO
10978	CLP1	C1862425	Prominent globes	0.2	0	0	HPO
10978	CLP1	C1864897	Cognitive delay	0.2	0	0	HPO
10978	CLP1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
10978	CLP1	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
10978	CLP1	C2749675	Cortical gyral simplification	0.2	0	0	HPO
10978	CLP1	C2752013	Prenatal onset	0.2	0	0	HPO
10978	CLP1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
10978	CLP1	C3552463	Very poor growth	0.2	0	0	HPO
10978	CLP1	C4014347	PONTOCEREBELLAR HYPOPLASIA, TYPE 10	0.48	1	1	ORPHANET;UNIPROT
10978	CLP1	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
10978	CLP1	C4020875	Mental and motor retardation	0.2	0	0	HPO
10978	CLP1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
10979	FERMT2	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
10979	FERMT2	C0017605	Angle Closure Glaucoma	0.2	1	0	CTD_human
10980	COPS6	C0019693	HIV Infections	0.2	1	0	CTD_human
10981	RAB32	C0019693	HIV Infections	0.2	1	0	CTD_human
10981	RAB32	C0023343	Leprosy	0.200549453568426	1	0	CTD_human
10981	RAB32	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10981	RAB32	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
10982	MAPRE2	C0008925	Cleft Palate	0.2	0	0	HPO
10982	MAPRE2	C0010417	Cryptorchidism	0.2	0	0	HPO
10982	MAPRE2	C0013604	Edema	0.2	0	0	HPO
10982	MAPRE2	C0023012	Language Delay	0.2	0	0	HPO
10982	MAPRE2	C0025990	Micrognathism	0.2	0	0	HPO
10982	MAPRE2	C0026010	Microphthalmos	0.2	0	0	HPO
10982	MAPRE2	C0026034	Microstomia	0.2	0	0	HPO
10982	MAPRE2	C0026827	Muscle hypotonia	0.2	0	0	HPO
10982	MAPRE2	C0152423	Congenital small ears	0.2	0	0	HPO
10982	MAPRE2	C0233715	Speech impairment	0.2	0	0	HPO
10982	MAPRE2	C0239234	Low set ears	0.2	0	0	HPO
10982	MAPRE2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
10982	MAPRE2	C0241210	Speech Delay	0.2	0	0	HPO
10982	MAPRE2	C0266544	Microcornea	0.2	0	0	HPO
10982	MAPRE2	C0334008	Pachyderma	0.2	0	0	HPO
10982	MAPRE2	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
10982	MAPRE2	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
10982	MAPRE2	C0423112	Short palpebral fissure	0.2	0	0	HPO
10982	MAPRE2	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
10982	MAPRE2	C0431659	Hypoplasia of scrotum	0.2	0	0	HPO
10982	MAPRE2	C0454644	Delayed speech and language development	0.2	0	0	HPO
10982	MAPRE2	C0473586	Michelin tire baby syndrome	0.200274726784213	0	0	ORPHANET
10982	MAPRE2	C0521525	Short neck	0.2	0	0	HPO
10982	MAPRE2	C0678230	Congenital Epicanthus	0.2	0	0	HPO
10982	MAPRE2	C1167713	Corneal diameter decreased	0.2	0	0	HPO
10982	MAPRE2	C1691215	Penile hypospadias	0.2	0	0	HPO
10982	MAPRE2	C1853241	Flat face	0.2	0	0	HPO
10982	MAPRE2	C1854301	Motor delay	0.2	0	0	HPO
10982	MAPRE2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
10982	MAPRE2	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
10982	MAPRE2	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
10982	MAPRE2	C4020874	No development of motor milestones	0.2	0	0	HPO
10982	MAPRE2	C4020878	Diffusely thickened skin	0.2	0	0	HPO
10982	MAPRE2	C4024853	Increased number of skin folds	0.2	0	0	HPO
10982	MAPRE2	C4225225	SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2	0.2	1	4	UNIPROT
10982	MAPRE2	C4280625	Decreased size of eyeball	0.2	0	0	HPO
10982	MAPRE2	C4280808	Abnormally small eyeball	0.2	0	0	HPO
10984	KCNQ1OT1	C0004903	Beckwith-Wiedemann Syndrome	0.229584360431111	0	0	CTD_human
10984	KCNQ1OT1	C0010417	Cryptorchidism	0.2	0	0	HPO
10984	KCNQ1OT1	C0015300	Exophthalmos	0.2	0	0	HPO
10984	KCNQ1OT1	C0018800	Cardiomegaly	0.2	0	0	HPO
10984	KCNQ1OT1	C0019209	Hepatomegaly	0.2	0	0	HPO
10984	KCNQ1OT1	C0024421	Macroglossia	0.2	0	0	HPO
10984	KCNQ1OT1	C0026106	Mild Mental Retardation	0.2	0	0	HPO
10984	KCNQ1OT1	C0027708	Nephroblastoma	0.201098907136852	0	0	HPO
10984	KCNQ1OT1	C0037932	Curvature of spine	0.2	0	0	HPO
10984	KCNQ1OT1	C0040427	Tooth Abnormalities	0.2	0	0	HPO
10984	KCNQ1OT1	C0158986	Neonatal hypoglycemia	0.2	0	0	HPO
10984	KCNQ1OT1	C0206624	Hepatoblastoma	0.200274726784213	0	0	HPO
10984	KCNQ1OT1	C0206661	Gonadoblastoma	0.2	0	0	HPO
10984	KCNQ1OT1	C0206686	Adrenocortical carcinoma	0.2	0	0	HPO
10984	KCNQ1OT1	C0221766	Diastasis recti	0.2	0	0	HPO
10984	KCNQ1OT1	C0262444	Dental abnormalities	0.2	0	0	HPO
10984	KCNQ1OT1	C0266589	Congenital ear anomaly NOS (disorder)	0.2	0	0	HPO
10984	KCNQ1OT1	C0332890	Congenital hemihypertrophy	0.4	0	0	HPO;ORPHANET
10984	KCNQ1OT1	C0456132	Large fontanelle	0.2	0	0	HPO
10984	KCNQ1OT1	C0542518	Enlarged kidney	0.2	0	0	HPO
10984	KCNQ1OT1	C0545053	Advanced bone age	0.2	0	0	HPO
10984	KCNQ1OT1	C0700208	Acquired scoliosis	0.2	0	0	HPO
10984	KCNQ1OT1	C0795690	Congenital omphalocele	0.2	0	0	HPO
10984	KCNQ1OT1	C0878544	Cardiomyopathies	0.2	0	0	HPO
10984	KCNQ1OT1	C1306710	Facial asymmetry	0.2	0	0	HPO
10984	KCNQ1OT1	C1837760	Prominent eyes	0.2	0	0	HPO
10984	KCNQ1OT1	C1845847	Coarse facial features	0.2	0	0	HPO
10984	KCNQ1OT1	C1848490	Protruding eyes	0.2	0	0	HPO
10984	KCNQ1OT1	C1849265	Overgrowth	0.2	0	0	HPO
10984	KCNQ1OT1	C1851720	Adrenocortical cytomegaly	0.2	0	0	HPO
10984	KCNQ1OT1	C1851722	Overgrowth of external genitalia	0.2	0	0	HPO
10984	KCNQ1OT1	C1851731	Generalized overgrowth	0.2	0	0	HPO
10984	KCNQ1OT1	C1851733	Pancreatic hyperplasia	0.2	0	0	HPO
10984	KCNQ1OT1	C1853737	Prominent occiput	0.2	0	0	HPO
10984	KCNQ1OT1	C1858033	Asymmetric chest	0.2	0	0	HPO
10984	KCNQ1OT1	C1862425	Prominent globes	0.2	0	0	HPO
10984	KCNQ1OT1	C3150281	Fetal overgrowth	0.2	0	0	HPO
10984	KCNQ1OT1	C4072820	Large bregma sutures	0.2	0	0	HPO
10984	KCNQ1OT1	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
10984	KCNQ1OT1	C4072822	Wide bregma sutures	0.2	0	0	HPO
10984	KCNQ1OT1	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
10984	KCNQ1OT1	C4280652	Prominent back of the head	0.2	0	0	HPO
10987	COPS5	C0038325	Stevens-Johnson Syndrome	0.2	1	0	CTD_human
10987	COPS5	C2239176	Liver carcinoma	0.207663639203332	1	0	CTD_human
10989	IMMT	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
10993	SDS	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
10999	SLC27A4	C0014457	Eosinophilia	0.2	0	0	HPO
10999	SLC27A4	C0020757	Ichthyoses	0.200549453568426	0	0	HPO
10999	SLC27A4	C0151526	Premature Birth	0.2	0	0	HPO
10999	SLC27A4	C0233315	Premature birth of newborn	0.2	0	0	HPO
10999	SLC27A4	C0852283	Respiratory Distress Syndrome	0.2	0	0	HPO
10999	SLC27A4	C1837610	ICHTHYOSIS PREMATURITY SYNDROME	0.681373633921066	2	6	CTD_human;ORPHANET;UNIPROT
10999	SLC27A4	C1842714	Desquamation of skin soon after birth	0.2	0	0	HPO
11004	KIF2C	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
11005	SPINK5	C0000889	Acanthosis Nigricans	0.2	0	0	HPO
11005	SPINK5	C0002994	Angioedema	0.2	0	0	HPO
11005	SPINK5	C0004096	Asthma	0.222278222812648	0	0	HPO
11005	SPINK5	C0011606	Exfoliative dermatitis	0.2	0	0	HPO
11005	SPINK5	C0013595	Eczema	0.207352110639124	0	0	HPO
11005	SPINK5	C0014544	Epilepsy	0.2	0	0	HPO
11005	SPINK5	C0025362	Mental Retardation	0.2	0	0	HPO
11005	SPINK5	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
11005	SPINK5	C0034067	Pulmonary Emphysema	0.2	0	0	HPO
11005	SPINK5	C0036572	Seizures	0.2	0	0	HPO
11005	SPINK5	C0042109	Urticaria	0.2	0	0	HPO
11005	SPINK5	C0079154	Congenital Nonbullous Ichthyosiform Erythroderma	0.2	0	0	HPO
11005	SPINK5	C0086438	Hypogammaglobulinemia	0.2	0	0	HPO
11005	SPINK5	C0231246	Failure to gain weight	0.2	0	0	HPO
11005	SPINK5	C0236175	Elevated IgE	0.2	0	0	HPO
11005	SPINK5	C0239998	Recurrent infections	0.2	0	0	HPO
11005	SPINK5	C0263485	Clastothrix	0.2	0	0	HPO
11005	SPINK5	C0263490	Brittle hair	0.2	0	0	HPO
11005	SPINK5	C0265962	Ichthyosis linearis circumflexa	0.493461612426442	1	5	CTD_human;ORPHANET
11005	SPINK5	C0267456	Villous atrophy of intestine	0.2	0	0	HPO
11005	SPINK5	C0423867	Fine hair	0.2	0	0	HPO
11005	SPINK5	C0423903	Low intelligence	0.2	0	0	HPO
11005	SPINK5	C0554101	Villous atrophy	0.2	0	0	HPO
11005	SPINK5	C0557874	Global developmental delay	0.2	0	0	HPO
11005	SPINK5	C0917816	Mental deficiency	0.2	0	0	HPO
11005	SPINK5	C1832446	Sparse eyebrow	0.2	0	0	HPO
11005	SPINK5	C1833058	Small intestine biopsy shows villous atrophy	0.2	0	0	HPO
11005	SPINK5	C1840253	IgE RESPONSIVENESS, ATOPIC	0.2	0	0	CTD_human
11005	SPINK5	C1843367	Poor school performance	0.2	0	0	HPO
11005	SPINK5	C1850544	Hypernatremic dehydration	0.2	0	0	HPO
11005	SPINK5	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
11005	SPINK5	C1857042	Sparse scalp hair	0.2	0	0	HPO
11005	SPINK5	C1859541	Variable degree of villous atrophy	0.2	0	0	HPO
11005	SPINK5	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
11005	SPINK5	C1864897	Cognitive delay	0.2	0	0	HPO
11005	SPINK5	C1970705	Fragile hair	0.2	0	0	HPO
11005	SPINK5	C2315100	Pediatric failure to thrive	0.200274726784213	0	0	HPO
11005	SPINK5	C2677378	Duodenal villous atrophy	0.2	0	0	HPO
11005	SPINK5	C3714497	Reactive airway disease	0.2	0	0	HPO
11005	SPINK5	C3714745	Malabsorption	0.2	0	0	HPO
11005	SPINK5	C3714756	Intellectual Disability	0.2	0	0	HPO
11005	SPINK5	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
11005	SPINK5	C4020747	Biopsy shows villous atrophy	0.2	0	0	HPO
11005	SPINK5	C4020875	Mental and motor retardation	0.2	0	0	HPO
11005	SPINK5	C4020876	Dull intelligence	0.2	0	0	HPO
11005	SPINK5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11005	SPINK5	C4021745	Abnormality of the musculature	0.2	0	0	HPO
11005	SPINK5	C4048270	Decreased antibody level in blood	0.2	0	0	HPO
11005	SPINK5	C4072837	Fractured hair	0.2	0	0	HPO
11010	GLIPR1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11010	GLIPR1	C0027708	Nephroblastoma	0.2	1	0	CTD_human
11019	LIAS	C0001125	Acidosis, Lactic	0.2	0	0	HPO
11019	LIAS	C0003578	Apnea	0.2	0	0	HPO
11019	LIAS	C0007194	Hypertrophic Cardiomyopathy	0.2	0	0	HPO
11019	LIAS	C0009917	Contracture	0.2	0	0	HPO
11019	LIAS	C0009918	Contracture of joint	0.2	0	0	HPO
11019	LIAS	C0014544	Epilepsy	0.200274726784213	0	0	HPO
11019	LIAS	C0026827	Muscle hypotonia	0.2	0	0	HPO
11019	LIAS	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
11019	LIAS	C0036572	Seizures	0.200274726784213	0	0	HPO
11019	LIAS	C0037317	Sleep disturbances	0.2	0	0	HPO
11019	LIAS	C0085584	Encephalopathies	0.200274726784213	0	0	HPO
11019	LIAS	C0151686	Growth retardation	0.2	0	0	HPO
11019	LIAS	C0232466	Feeding difficulties	0.2	0	0	HPO
11019	LIAS	C0333068	Flexion contracture	0.2	0	0	HPO
11019	LIAS	C0347959	Lactic acidemia	0.2	0	0	HPO
11019	LIAS	C0424688	Small head	0.2	0	0	HPO
11019	LIAS	C0426970	Spastic Quadriplegia	0.2	0	0	HPO
11019	LIAS	C0456070	Growth delay	0.2	0	0	HPO
11019	LIAS	C0878787	Growth failure	0.2	0	0	HPO
11019	LIAS	C1836440	Increased serum lactate	0.2	0	0	HPO
11019	LIAS	C1837385	Poor growth	0.2	0	0	HPO
11019	LIAS	C1837397	Global developmental delay, severe	0.2	0	0	HPO
11019	LIAS	C1850530	Flexion contractures of joints	0.2	0	0	HPO
11019	LIAS	C1854301	Motor delay	0.2	0	0	HPO
11019	LIAS	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
11019	LIAS	C1855773	Psychomotor retardation, profound	0.2	0	0	HPO
11019	LIAS	C3280887	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES	0.4	1	3	ORPHANET;UNIPROT
11019	LIAS	C3552463	Very poor growth	0.2	0	0	HPO
11019	LIAS	C3553450	Profound global developmental delay	0.2	0	0	HPO
11019	LIAS	C4020855	Respiratory function loss	0.2	0	0	HPO
11019	LIAS	C4020874	No development of motor milestones	0.2	0	0	HPO
11019	LIAS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11020	IFT27	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
11020	IFT27	C0020538	Hypertensive disease	0.2	0	0	HPO
11020	IFT27	C0020619	Hypogonadism	0.2	0	0	HPO
11020	IFT27	C0025362	Mental Retardation	0.2	0	0	HPO
11020	IFT27	C0028738	Nystagmus	0.2	0	0	HPO
11020	IFT27	C0028754	Obesity	0.2	0	0	HPO
11020	IFT27	C0035078	Kidney Failure	0.2	0	0	HPO
11020	IFT27	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
11020	IFT27	C0152427	Polydactyly	0.2	0	0	HPO
11020	IFT27	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
11020	IFT27	C0349588	Short stature	0.2	0	0	HPO
11020	IFT27	C0423903	Low intelligence	0.2	0	0	HPO
11020	IFT27	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
11020	IFT27	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
11020	IFT27	C0497247	Increase in blood pressure	0.2	0	0	HPO
11020	IFT27	C0685840	Congenital hypoplasia of ovary	0.2	0	0	HPO
11020	IFT27	C0752166	Bardet-Biedl Syndrome	0.200274726784213	0	0	ORPHANET
11020	IFT27	C0917816	Mental deficiency	0.2	0	0	HPO
11020	IFT27	C1565489	Renal Insufficiency	0.2	0	0	HPO
11020	IFT27	C1835452	Hypoplastic ovary	0.2	0	0	HPO
11020	IFT27	C1839604	Renal failure in adulthood	0.2	0	0	HPO
11020	IFT27	C1843367	Poor school performance	0.2	0	0	HPO
11020	IFT27	C1855333	Small genitalia	0.2	0	0	HPO
11020	IFT27	C2364082	Sense of smell impaired	0.2	0	0	HPO
11020	IFT27	C3714581	Multicystic Dysplastic Kidney	0.2	0	0	HPO
11020	IFT27	C3714756	Intellectual Disability	0.2	0	0	HPO
11020	IFT27	C3889475	BARDET-BIEDL SYNDROME 19	0.2	1	1	UNIPROT
11020	IFT27	C4020876	Dull intelligence	0.2	0	0	HPO
11020	IFT27	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11031	RAB31	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11040	PIM2	C0023467	Leukemia, Myelocytic, Acute	0.201098907136852	1	0	CTD_human
11043	MID2	C0025362	Mental Retardation	0.2	0	0	HPO
11043	MID2	C0038379	Strabismus	0.2	0	0	HPO
11043	MID2	C0423903	Low intelligence	0.2	0	0	HPO
11043	MID2	C0424295	Hyperactive behavior	0.2	0	0	HPO
11043	MID2	C0557874	Global developmental delay	0.2	0	0	HPO
11043	MID2	C0746940	nonverbal	0.2	0	0	HPO
11043	MID2	C0917816	Mental deficiency	0.2	0	0	HPO
11043	MID2	C1843367	Poor school performance	0.2	0	0	HPO
11043	MID2	C1845977	X- linked recessive	0.2	0	0	HPO
11043	MID2	C1848207	Poor speech	0.2	0	0	HPO
11043	MID2	C1854882	Absent speech	0.2	0	0	HPO
11043	MID2	C1864897	Cognitive delay	0.2	0	0	HPO
11043	MID2	C2752013	Prenatal onset	0.2	0	0	HPO
11043	MID2	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
11043	MID2	C3890168	MENTAL RETARDATION, X-LINKED 101	0.2	1	1	UNIPROT
11043	MID2	C4020875	Mental and motor retardation	0.2	0	0	HPO
11043	MID2	C4020876	Dull intelligence	0.2	0	0	HPO
11043	MID2	C4280574	Problems speaking	0.2	0	0	HPO
1106	CHD2	C0001807	Aggressive behavior	0.2	0	0	HPO
1106	CHD2	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1106	CHD2	C0009952	Febrile Convulsions	0.2	0	0	HPO
1106	CHD2	C0013362	Dysarthria	0.2	0	0	HPO
1106	CHD2	C0014544	Epilepsy	0.202197814273705	1	0	CTD_human
1106	CHD2	C0014550	Epilepsies, Myoclonic	0.200274726784213	0	0	HPO
1106	CHD2	C0014553	Absence Epilepsy	0.2	0	0	HPO
1106	CHD2	C0025362	Mental Retardation	0.2	0	0	HPO
1106	CHD2	C0027066	Myoclonus	0.2	0	0	HPO
1106	CHD2	C0031212	Personality Disorders	0.2	0	0	HPO
1106	CHD2	C0038220	Status Epilepticus	0.2	0	0	HPO
1106	CHD2	C0085584	Encephalopathies	0.201098907136852	0	0	HPO
1106	CHD2	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
1106	CHD2	C0234985	Mental deterioration	0.2	0	0	HPO
1106	CHD2	C0238111	Lennox-Gastaut syndrome	0.200274726784213	0	0	ORPHANET
1106	CHD2	C0270846	Epileptic drop attack	0.2	0	0	HPO
1106	CHD2	C0393702	Myoclonic Astatic Epilepsy	0.200274726784213	0	0	HPO
1106	CHD2	C0423903	Low intelligence	0.2	0	0	HPO
1106	CHD2	C0424295	Hyperactive behavior	0.2	0	0	HPO
1106	CHD2	C0424323	Physical aggression	0.2	0	0	HPO
1106	CHD2	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
1106	CHD2	C0543888	Epileptic encephalopathy	0.200824180352639	0	0	HPO
1106	CHD2	C0557874	Global developmental delay	0.2	0	0	HPO
1106	CHD2	C0595948	Atypical absence seizure	0.2	0	0	HPO
1106	CHD2	C0751778	Myoclonic Epilepsies, Progressive	0.2	0	0	HPO
1106	CHD2	C0856975	Autistic behavior	0.2	0	0	HPO
1106	CHD2	C0917816	Mental deficiency	0.200274726784213	0	0	HPO
1106	CHD2	C1457883	Aggressive reaction	0.2	0	0	HPO
1106	CHD2	C1510586	Autism Spectrum Disorders	0.200549453568426	0	0	HPO
1106	CHD2	C1836508	Hypertonic seizures	0.2	0	0	HPO
1106	CHD2	C1836509	Hypotonic seizures	0.2	0	0	HPO
1106	CHD2	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1106	CHD2	C1836830	Developmental regression	0.2	0	0	HPO
1106	CHD2	C1843367	Poor school performance	0.2	0	0	HPO
1106	CHD2	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1106	CHD2	C1850601	Brainstem abnormalities	0.2	0	0	HPO
1106	CHD2	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1106	CHD2	C1855019	Psychomotor regression	0.2	0	0	HPO
1106	CHD2	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1106	CHD2	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1106	CHD2	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1106	CHD2	C1864897	Cognitive delay	0.2	0	0	HPO
1106	CHD2	C3714756	Intellectual Disability	0.201098907136852	0	0	HPO
1106	CHD2	C3809278	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET	0.2	1	23	UNIPROT
1106	CHD2	C4020765	EEG with 3-4-Hz spike waves	0.2	0	0	HPO
1106	CHD2	C4020875	Mental and motor retardation	0.2	0	0	HPO
1106	CHD2	C4020876	Dull intelligence	0.2	0	0	HPO
1106	CHD2	C4021759	Generalized myoclonic seizures	0.2	0	0	HPO
1106	CHD2	C4022798	Abnormal brain FDG positron emission tomography	0.2	0	0	HPO
1106	CHD2	C4023471	EEG with abnormally slow frequencies	0.2	0	0	HPO
1106	CHD2	C4023479	EEG with focal sharp slow waves	0.2	0	0	HPO
1106	CHD2	C4023684	EEG with spike-wave complexes (>3.5 Hz)	0.2	0	0	HPO
11063	SOX30	C0024121	Lung Neoplasms	0.200274726784213	1	0	CTD_human
11065	UBE2C	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1107	CHD3	C0036920	Sezary Syndrome	0.2	1	0	CTD_human
11073	TOPBP1	C0023434	Chronic Lymphocytic Leukemia	0.202407028523288	1	0	CTD_human
11076	TPPP	C3826462	Depression in children	0.200274726784213	1	0	PSYGENET
11078	TRIOBP	C1848924	Infantile onset	0.2	0	0	HPO
11078	TRIOBP	C1853276	Deafness, Autosomal Recessive 28	0.4	1	7	CTD_human;UNIPROT
11078	TRIOBP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11078	TRIOBP	C4021533	Severe sensorineural hearing impairment	0.2	0	0	HPO
1108	CHD4	C0014170	Endometrial Neoplasms	0.2	1	0	CTD_human
1108	CHD4	C0036341	Schizophrenia	0.2	1	0	CTD_human
11081	KERA	C0003742	Arcus Senilis	0.2	0	0	HPO
11081	KERA	C0020490	Hyperopia	0.2	0	0	HPO
11081	KERA	C0339268	Arcus juvenilis	0.2	0	0	HPO
11081	KERA	C0344529	Cornea plana	0.202747267842131	0	0	HPO
11081	KERA	C1096274	Corneal thinning	0.2	0	0	HPO
11081	KERA	C1857574	CORNEA PLANA 2	0.481373633921066	2	8	CTD_human;UNIPROT
11081	KERA	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1109	AKR1C4	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
1109	AKR1C4	C0005586	Bipolar Disorder	0.400549453568426	2	0	CTD_human;PSYGENET
1109	AKR1C4	C1456784	Paranoia	0.200274726784213	1	0	CTD_human
1109	AKR1C4	C1839840	MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE	0.2	0	0	ORPHANET
11093	ADAMTS13	C0009676	Confusion	0.200274726784213	0	0	HPO
11093	ADAMTS13	C0015967	Fever	0.2	0	0	HPO
11093	ADAMTS13	C0019061	Hemolytic-Uremic Syndrome	0.207403267796436	0	0	HPO
11093	ADAMTS13	C0022353	Neonatal Jaundice	0.2	0	0	HPO
11093	ADAMTS13	C0033687	Proteinuria	0.2	0	0	HPO
11093	ADAMTS13	C0034155	Purpura, Thrombotic Thrombocytopenic	0.31221358455981	1	0	CTD_human
11093	ADAMTS13	C0040034	Thrombocytopenia	0.214228371269812	0	0	HPO
11093	ADAMTS13	C0040822	Tremor	0.2	0	0	HPO
11093	ADAMTS13	C0151539	Blood urea increased	0.2	0	0	HPO
11093	ADAMTS13	C0206160	Reticulocytosis	0.2	0	0	HPO
11093	ADAMTS13	C0221021	Microangiopathic hemolytic anemia	0.200274726784213	0	0	HPO
11093	ADAMTS13	C0239937	Microscopic hematuria	0.2	0	0	HPO
11093	ADAMTS13	C0344386	Schistocytosis	0.2	0	0	HPO
11093	ADAMTS13	C0392386	Decreased platelet count	0.2	0	0	HPO
11093	ADAMTS13	C0398650	Immune thrombocytopenic purpura	0.2	1	0	CTD_human
11093	ADAMTS13	C0700225	Serum creatinine raised	0.2	0	0	HPO
11093	ADAMTS13	C1268935	Congenital Thrombotic Thrombocytopenic Purpura	0.499714815928713	16	52	ORPHANET;UNIPROT
11093	ADAMTS13	C1836440	Increased serum lactate	0.2	0	0	HPO
11093	ADAMTS13	C1859236	Prolonged neonatal jaundice	0.2	0	0	HPO
11093	ADAMTS13	C2717961	Thrombotic Microangiopathies	0.209890164231672	2	0	CTD_human
11093	ADAMTS13	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11098	PRSS23	C0025202	melanoma	0.2	1	0	CTD_human
11099	PTPN21	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
111	ADCY5	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
111	ADCY5	C0003467	Anxiety	0.2	0	0	HPO
111	ADCY5	C0005612	Birth Weight	0.2	1	0	CTD_human
111	ADCY5	C0008489	Chorea	0.200549453568426	0	0	HPO
111	ADCY5	C0011570	Mental Depression	0.200274726784213	2	0	PSYGENET
111	ADCY5	C0011581	Depressive disorder	0.200274726784213	2	0	PSYGENET
111	ADCY5	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.210243080196208	2	3	CTD_human
111	ADCY5	C0013362	Dysarthria	0.2	0	0	HPO
111	ADCY5	C0013384	Dyskinetic syndrome	0.201373633921065	0	0	HPO
111	ADCY5	C0013421	Dystonia	0.200824180352639	0	0	HPO
111	ADCY5	C0016059	Fibrosis	0.2	1	0	CTD_human
111	ADCY5	C0020538	Hypertensive disease	0.2	1	0	CTD_human
111	ADCY5	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
111	ADCY5	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
111	ADCY5	C0029456	Osteoporosis	0.2	1	0	CTD_human
111	ADCY5	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
111	ADCY5	C0242698	Ventricular Dysfunction, Left	0.2	1	0	CTD_human
111	ADCY5	C0270871	Facial Myokymia	0.201098907136852	0	0	HPO
111	ADCY5	C0393584	Benign Hereditary Chorea	0.200274726784213	0	0	ORPHANET
111	ADCY5	C0575081	Gait abnormality	0.2	0	0	HPO
111	ADCY5	C0878544	Cardiomyopathies	0.2	2	0	CTD_human
111	ADCY5	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
111	ADCY5	C1838391	Limb hypertonia	0.2	0	0	HPO
111	ADCY5	C1847627	Dyskinesia, Familial, with Facial Myokymia	0.4	1	5	ORPHANET;UNIPROT
111	ADCY5	C4020858	Choreatic disease	0.2	0	0	HPO
111	ADCY5	C4020871	Dystonic disease	0.2	0	0	HPO
111	ADCY5	C4020884	Anxiety disease	0.2	0	0	HPO
11107	PRDM5	C0010036	Corneal dystrophy	0.2	0	0	HPO
11107	PRDM5	C0011053	Deafness	0.2	0	0	HPO
11107	PRDM5	C0013491	Ecchymosis	0.2	0	0	HPO
11107	PRDM5	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
11107	PRDM5	C0018777	Conductive hearing loss	0.2	0	0	HPO
11107	PRDM5	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
11107	PRDM5	C0022578	Keratoconus	0.200549453568426	0	0	HPO
11107	PRDM5	C0027092	Myopia	0.200274726784213	0	0	HPO
11107	PRDM5	C0029456	Osteoporosis	0.2	0	0	HPO
11107	PRDM5	C0231528	Myalgia	0.2	0	0	HPO
11107	PRDM5	C0241074	Skin hyperelastic	0.2	0	0	HPO
11107	PRDM5	C0241178	Velvety skin	0.2	0	0	HPO
11107	PRDM5	C0268344	Ehlers-Danlos syndrome 6B	0.201373633921065	0	0	ORPHANET
11107	PRDM5	C0271183	Severe myopia	0.2	0	0	HPO
11107	PRDM5	C0339789	Congenital deafness	0.2	0	0	HPO
11107	PRDM5	C0349702	Corneal Scar	0.2	0	0	HPO
11107	PRDM5	C0423798	Increased tendency to bruise	0.2	0	0	HPO
11107	PRDM5	C0542514	Blue sclera	0.2	0	0	HPO
11107	PRDM5	C0575081	Gait abnormality	0.2	0	0	HPO
11107	PRDM5	C1384666	hearing impairment	0.2	0	0	HPO
11107	PRDM5	C1844592	Soft skin	0.2	0	0	HPO
11107	PRDM5	C3280011	BRITTLE CORNEA SYNDROME 2	0.200274726784213	1	2	UNIPROT
11107	PRDM5	C3553764	Joint hyperflexibility	0.2	0	0	HPO
11107	PRDM5	C3665386	Abnormal vision	0.2	0	0	HPO
11107	PRDM5	C3887531	Keratoglobus	0.2	0	0	HPO
11107	PRDM5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11107	PRDM5	C4024172	Abnormality of hair pigmentation	0.2	0	0	HPO
1111	CHEK1	C0032578	Polyploidy	0.2	1	0	CTD_human
1111	CHEK1	C0036341	Schizophrenia	0.2	1	0	PSYGENET
1111	CHEK1	C1458155	Mammary Neoplasms	0.200549453568426	1	0	CTD_human
11113	CIT	C0008519	Ectopic Tissue	0.2	0	0	HPO
11113	CIT	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
11113	CIT	C0042580	Vesico-Ureteral Reflux	0.2	0	0	HPO
11113	CIT	C0151889	Hyperreflexia	0.2	0	0	HPO
11113	CIT	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
11113	CIT	C0266294	Unilateral agenesis of kidney	0.2	0	0	HPO
11113	CIT	C0266483	Pachygyria	0.2	0	0	HPO
11113	CIT	C0349588	Short stature	0.2	0	0	HPO
11113	CIT	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
11113	CIT	C0424688	Small head	0.2	0	0	HPO
11113	CIT	C0557874	Global developmental delay	0.2	0	0	HPO
11113	CIT	C1849172	Frontal lobe hypoplasia	0.2	0	0	HPO
11113	CIT	C1855081	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	0.2	0	0	ORPHANET
11113	CIT	C1857679	Sloping forehead	0.2	0	0	HPO
11113	CIT	C1864897	Cognitive delay	0.2	0	0	HPO
11113	CIT	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
11113	CIT	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
11113	CIT	C4020875	Mental and motor retardation	0.2	0	0	HPO
11113	CIT	C4021741	Abnormal cortical bone morphology	0.2	0	0	HPO
11127	KIF3A	C0004096	Asthma	0.200549453568426	1	0	CTD_human
11127	KIF3A	C0005941	Bone Diseases, Developmental	0.2	1	0	CTD_human
11127	KIF3A	C0152427	Polydactyly	0.2	1	0	CTD_human
11127	KIF3A	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
11128	POLR3A	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
11128	POLR3A	C0011168	Deglutition Disorders	0.2	0	0	HPO
11128	POLR3A	C0013132	Drooling	0.2	0	0	HPO
11128	POLR3A	C0013362	Dysarthria	0.2	0	0	HPO
11128	POLR3A	C0013421	Dystonia	0.2	0	0	HPO
11128	POLR3A	C0020608	Hypodontia	0.200549453568426	0	0	HPO
11128	POLR3A	C0023520	Leukodystrophy	0.201923087489492	0	0	HPO
11128	POLR3A	C0026838	Muscle Spasticity	0.2	0	0	HPO
11128	POLR3A	C0027092	Myopia	0.2	0	0	HPO
11128	POLR3A	C0034012	Delayed Puberty	0.2	0	0	HPO
11128	POLR3A	C0034935	Babinski Reflex	0.2	0	0	HPO
11128	POLR3A	C0037036	Sialorrhea	0.2	0	0	HPO
11128	POLR3A	C0151889	Hyperreflexia	0.2	0	0	HPO
11128	POLR3A	C0234162	Cerebellar Dysmetria	0.2	0	0	HPO
11128	POLR3A	C0234378	Static Tremor	0.2	0	0	HPO
11128	POLR3A	C0235946	Cerebral atrophy	0.2	0	0	HPO
11128	POLR3A	C0262404	Cerebellar degeneration	0.2	0	0	HPO
11128	POLR3A	C0271623	Hypogonadotropic hypogonadism	0.201373633921065	0	0	HPO
11128	POLR3A	C0344482	Hypoplasia of corpus callosum	0.200274726784213	0	0	HPO
11128	POLR3A	C0349588	Short stature	0.2	0	0	HPO
11128	POLR3A	C0544820	Hypomyelination	0.2	0	0	HPO
11128	POLR3A	C0557874	Global developmental delay	0.2	0	0	HPO
11128	POLR3A	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
11128	POLR3A	C0948896	Primary hypogonadism	0.2	0	0	HPO
11128	POLR3A	C1837514	Phenotypic variability	0.2	0	0	HPO
11128	POLR3A	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
11128	POLR3A	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
11128	POLR3A	C1864897	Cognitive delay	0.2	0	0	HPO
11128	POLR3A	C1864985	Progressive disorder	0.2	0	0	HPO
11128	POLR3A	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
11128	POLR3A	C2676243	Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	0.401098907136852	4	19	ORPHANET;UNIPROT
11128	POLR3A	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
11128	POLR3A	C4020871	Dystonic disease	0.2	0	0	HPO
11128	POLR3A	C4020873	Infratentorial atrophy	0.2	0	0	HPO
11128	POLR3A	C4020875	Mental and motor retardation	0.2	0	0	HPO
11128	POLR3A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11128	POLR3A	C4025616	CNS hypomyelination	0.2	0	0	HPO
11128	POLR3A	C4025723	Abnormal upper motor neuron morphology	0.2	0	0	HPO
11128	POLR3A	C4082304	Oligodontia	0.2	0	0	HPO
11128	POLR3A	C4280619	Missing more than six teeth	0.2	0	0	HPO
1113	CHGA	C0007131	Non-Small Cell Lung Carcinoma	0.200824180352639	1	0	CTD_human
1113	CHGA	C0031511	Pheochromocytoma	0.202472541057918	1	0	CTD_human
1113	CHGA	C0036341	Schizophrenia	0.208147580237129	1	0	PSYGENET
11132	CAPN10	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.328526153164498	1	1	CTD_human
11132	CAPN10	C1832544	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder)	0.2	0	0	CTD_human
11132	CAPN10	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
11133	KPTN	C0003467	Anxiety	0.2	0	0	HPO
11133	KPTN	C0025362	Mental Retardation	0.2	0	0	HPO
11133	KPTN	C0026827	Muscle hypotonia	0.2	0	0	HPO
11133	KPTN	C0038271	Stereotyped Behavior	0.2	0	0	HPO
11133	KPTN	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
11133	KPTN	C0221354	Frontal bossing	0.2	0	0	HPO
11133	KPTN	C0221358	Long narrow head	0.2	0	0	HPO
11133	KPTN	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
11133	KPTN	C0399526	Class III malocclusion	0.2	0	0	HPO
11133	KPTN	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
11133	KPTN	C0423903	Low intelligence	0.2	0	0	HPO
11133	KPTN	C0426429	Broad nasal tip	0.2	0	0	HPO
11133	KPTN	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
11133	KPTN	C0917816	Mental deficiency	0.2	0	0	HPO
11133	KPTN	C1843367	Poor school performance	0.2	0	0	HPO
11133	KPTN	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
11133	KPTN	C1864897	Cognitive delay	0.2	0	0	HPO
11133	KPTN	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
11133	KPTN	C2752013	Prenatal onset	0.2	0	0	HPO
11133	KPTN	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
11133	KPTN	C3810225	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41	0.2	0	0	ORPHANET
11133	KPTN	C4020875	Mental and motor retardation	0.2	0	0	HPO
11133	KPTN	C4020876	Dull intelligence	0.2	0	0	HPO
11133	KPTN	C4020884	Anxiety disease	0.2	0	0	HPO
11133	KPTN	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11133	KPTN	C4083076	Increased head circumference	0.2	0	0	HPO
11133	KPTN	C4255213	Increased size of skull	0.2	0	0	HPO
11133	KPTN	C4280538	Curvature of little finger	0.2	0	0	HPO
11133	KPTN	C4280644	Increased size of mandible	0.2	0	0	HPO
11133	KPTN	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
11133	KPTN	C4280653	Turridolichocephaly	0.2	0	0	HPO
11133	KPTN	C4280654	Narrow skull shape	0.2	0	0	HPO
11133	KPTN	C4280655	Narrow head shape	0.2	0	0	HPO
11133	KPTN	C4280656	Narrow cranium shape	0.2	0	0	HPO
11133	KPTN	C4280663	Increased size of cranium	0.2	0	0	HPO
11133	KPTN	C4280664	Big calvaria	0.2	0	0	HPO
11136	SLC7A9	C0010691	Cystinuria	0.729925140376951	8	24	CTD_human;HPO;ORPHANET;UNIPROT
11136	SLC7A9	C0022658	Kidney Diseases	0.2	1	0	CTD_human
11136	SLC7A9	C0035078	Kidney Failure	0.2	0	0	HPO
11136	SLC7A9	C0262655	Recurrent urinary tract infection	0.2	0	0	HPO
11136	SLC7A9	C0392525	Nephrolithiasis	0.200549453568426	0	0	HPO
11136	SLC7A9	C0497552	Congenital neurologic anomalies	0.2	0	0	HPO
11136	SLC7A9	C1565489	Renal Insufficiency	0.2	0	0	HPO
11136	SLC7A9	C1839604	Renal failure in adulthood	0.2	0	0	HPO
11136	SLC7A9	C1861403	Variable expressivity	0.2	0	0	HPO
11136	SLC7A9	C1866862	Highly variable severity	0.2	0	0	HPO
11136	SLC7A9	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11136	SLC7A9	C4021733	Hyperlysinuria	0.2	0	0	HPO
11136	SLC7A9	C4025602	Ornithinuria	0.2	0	0	HPO
11136	SLC7A9	C4025635	Argininuria	0.2	0	0	HPO
1114	CHGB	C0036341	Schizophrenia	0.213836974793657	3	0	PSYGENET
1114	CHGB	C0221765	Chronic schizophrenia	0.200274726784213	1	0	PSYGENET
11141	IL1RAPL1	C0004352	Autistic Disorder	0.40433011601278	2	0	CTD_human;HPO
11141	IL1RAPL1	C0020534	Orbital separation excessive	0.2	0	0	HPO
11141	IL1RAPL1	C0025202	melanoma	0.2	1	0	CTD_human
11141	IL1RAPL1	C0025362	Mental Retardation	0.202197814273705	0	0	HPO
11141	IL1RAPL1	C0026351	Moderate mental retardation (I.Q. 35-49)	0.2	0	0	HPO
11141	IL1RAPL1	C0040433	Tooth Crowding	0.2	0	0	HPO
11141	IL1RAPL1	C0240379	Open mouth	0.2	0	0	HPO
11141	IL1RAPL1	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
11141	IL1RAPL1	C0399526	Class III malocclusion	0.2	0	0	HPO
11141	IL1RAPL1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
11141	IL1RAPL1	C0423903	Low intelligence	0.2	0	0	HPO
11141	IL1RAPL1	C0424295	Hyperactive behavior	0.2	0	0	HPO
11141	IL1RAPL1	C0426414	Small nose	0.2	0	0	HPO
11141	IL1RAPL1	C0431447	Synophrys	0.2	0	0	HPO
11141	IL1RAPL1	C0796206	Atkin syndrome	0.2	0	0	CTD_human
11141	IL1RAPL1	C0809983	Schizophrenia and related disorders	0.200274726784213	1	0	PSYGENET
11141	IL1RAPL1	C0917816	Mental deficiency	0.2	0	0	HPO
11141	IL1RAPL1	C1136249	Mental Retardation, X-Linked	0.204930726738519	1	0	CTD_human
11141	IL1RAPL1	C1317785	Tooth size discrepancy	0.2	0	0	HPO
11141	IL1RAPL1	C1510586	Autism Spectrum Disorders	0.201373633921065	1	0	CTD_human
11141	IL1RAPL1	C1839767	Inverted V-shaped upper lip	0.2	0	0	HPO
11141	IL1RAPL1	C1843367	Poor school performance	0.2	0	0	HPO
11141	IL1RAPL1	C1844820	Range of joint movement increased	0.2	0	0	HPO
11141	IL1RAPL1	C1845977	X- linked recessive	0.2	0	0	HPO
11141	IL1RAPL1	C1850072	Tented upper lip	0.2	0	0	HPO
11141	IL1RAPL1	C1853383	Tented mouth	0.2	0	0	HPO
11141	IL1RAPL1	C1854114	Short nose	0.2	0	0	HPO
11141	IL1RAPL1	C1856117	Fleshy upturned lobules	0.2	0	0	HPO
11141	IL1RAPL1	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
11141	IL1RAPL1	C3714756	Intellectual Disability	0.20439562854741	0	0	HPO
11141	IL1RAPL1	C4020876	Dull intelligence	0.2	0	0	HPO
11141	IL1RAPL1	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
11141	IL1RAPL1	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
11141	IL1RAPL1	C4280644	Increased size of mandible	0.2	0	0	HPO
11141	IL1RAPL1	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
11146	GLMN	C0037268	Skin Abnormalities	0.2	0	0	HPO
11146	GLMN	C0037274	Dermatologic disorders	0.2	0	0	HPO
11146	GLMN	C1841984	GLOMUVENOUS MALFORMATIONS	0.483296721410557	0	0	CTD_human;ORPHANET
11146	GLMN	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
11149	BVES	C4225199	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X	0.4	1	1	ORPHANET;UNIPROT
11151	CORO1A	C0021051	Immunologic Deficiency Syndromes	0.200274726784213	0	0	HPO
11151	CORO1A	C0024312	Lymphopenia	0.200549453568426	0	0	HPO
11151	CORO1A	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
11151	CORO1A	C0041296	Tuberculosis	0.201098907136852	1	0	CTD_human
11151	CORO1A	C0424295	Hyperactive behavior	0.2	0	0	HPO
11151	CORO1A	C0557874	Global developmental delay	0.2	0	0	HPO
11151	CORO1A	C1848924	Infantile onset	0.2	0	0	HPO
11151	CORO1A	C1864897	Cognitive delay	0.2	0	0	HPO
11151	CORO1A	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
11151	CORO1A	C3809383	IMMUNODEFICIENCY 8	0.4	1	3	ORPHANET;UNIPROT
11151	CORO1A	C4020875	Mental and motor retardation	0.2	0	0	HPO
11151	CORO1A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11152	WDR45	C0013363	Dysautonomia	0.2	0	0	HPO
11152	WDR45	C0013421	Dystonia	0.200824180352639	0	0	HPO
11152	WDR45	C0025362	Mental Retardation	0.2	0	0	HPO
11152	WDR45	C0026837	Muscle Rigidity	0.2	0	0	HPO
11152	WDR45	C0027746	Nerve Degeneration	0.2	0	0	HPO
11152	WDR45	C0037771	Paraparesis, Spastic	0.2	0	0	HPO
11152	WDR45	C0040822	Tremor	0.2	0	0	HPO
11152	WDR45	C0154671	Degenerative brain disorder	0.2	0	0	HPO
11152	WDR45	C0233565	Bradykinesia	0.2	0	0	HPO
11152	WDR45	C0235946	Cerebral atrophy	0.2	0	0	HPO
11152	WDR45	C0242422	Parkinsonian Disorders	0.200549453568426	0	0	HPO
11152	WDR45	C0262404	Cerebellar degeneration	0.2	0	0	HPO
11152	WDR45	C0423903	Low intelligence	0.2	0	0	HPO
11152	WDR45	C0497202	Abnormal ocular motility	0.2	0	0	HPO
11152	WDR45	C0497327	Dementia	0.200274726784213	0	0	HPO
11152	WDR45	C0524851	Neurodegenerative Disorders	0.200274726784213	0	0	HPO
11152	WDR45	C0557874	Global developmental delay	0.200824180352639	0	0	HPO
11152	WDR45	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
11152	WDR45	C0746940	nonverbal	0.2	0	0	HPO
11152	WDR45	C0917816	Mental deficiency	0.2	0	0	HPO
11152	WDR45	C1145628	Autonomic nervous system disorders	0.2	0	0	HPO
11152	WDR45	C1833297	Frontal release signs	0.2	0	0	HPO
11152	WDR45	C1843367	Poor school performance	0.2	0	0	HPO
11152	WDR45	C1847879	X-linked dominant	0.2	0	0	HPO
11152	WDR45	C1848207	Poor speech	0.2	0	0	HPO
11152	WDR45	C1854882	Absent speech	0.2	0	0	HPO
11152	WDR45	C1864897	Cognitive delay	0.2	0	0	HPO
11152	WDR45	C2931845	Neurodegeneration with brain iron accumulation (NBIA)	0.202747267842131	1	0	CTD_human
11152	WDR45	C3550973	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	0.203021994626344	0	0	ORPHANET
11152	WDR45	C3714756	Intellectual Disability	0.200824180352639	0	0	HPO
11152	WDR45	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
11152	WDR45	C4020860	Supratentorial atrophy	0.2	0	0	HPO
11152	WDR45	C4020871	Dystonic disease	0.2	0	0	HPO
11152	WDR45	C4020873	Infratentorial atrophy	0.2	0	0	HPO
11152	WDR45	C4020875	Mental and motor retardation	0.2	0	0	HPO
11152	WDR45	C4020876	Dull intelligence	0.2	0	0	HPO
11152	WDR45	C4280574	Problems speaking	0.2	0	0	HPO
11154	AP4S1	C0007789	Cerebral Palsy	0.200274726784213	0	0	HPO
11154	AP4S1	C0009081	Congenital clubfoot	0.2	0	0	HPO
11154	AP4S1	C0009917	Contracture	0.2	0	0	HPO
11154	AP4S1	C0009918	Contracture of joint	0.2	0	0	HPO
11154	AP4S1	C0024433	Macrostomia	0.2	0	0	HPO
11154	AP4S1	C0034935	Babinski Reflex	0.2	0	0	HPO
11154	AP4S1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
11154	AP4S1	C0037772	Spastic Paraplegia	0.2	0	0	HPO
11154	AP4S1	C0151889	Hyperreflexia	0.2	0	0	HPO
11154	AP4S1	C0240543	Bulbous nose	0.2	0	0	HPO
11154	AP4S1	C0333068	Flexion contracture	0.2	0	0	HPO
11154	AP4S1	C0349588	Short stature	0.2	0	0	HPO
11154	AP4S1	C0424688	Small head	0.2	0	0	HPO
11154	AP4S1	C0426415	Large nose	0.2	0	0	HPO
11154	AP4S1	C0557874	Global developmental delay	0.2	0	0	HPO
11154	AP4S1	C1400105	Hypertrophy of nose	0.2	0	0	HPO
11154	AP4S1	C1834118	Potato nose	0.2	0	0	HPO
11154	AP4S1	C1845847	Coarse facial features	0.2	0	0	HPO
11154	AP4S1	C1849097	Loss of ability to walk	0.2	0	0	HPO
11154	AP4S1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
11154	AP4S1	C1855751	Bulbous nasal tip	0.2	0	0	HPO
11154	AP4S1	C1864897	Cognitive delay	0.2	0	0	HPO
11154	AP4S1	C2752013	Prenatal onset	0.2	0	0	HPO
11154	AP4S1	C4020875	Mental and motor retardation	0.2	0	0	HPO
11154	AP4S1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11154	AP4S1	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
11154	AP4S1	C4280629	Hyperplasia of nose	0.2	0	0	HPO
11155	LDB3	C0007193	Cardiomyopathy, Dilated	0.208371149864029	0	0	HPO
11155	LDB3	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
11155	LDB3	C0151576	Elevated creatine kinase	0.2	0	0	HPO
11155	LDB3	C0152025	Polyneuropathy	0.2	0	0	HPO
11155	LDB3	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
11155	LDB3	C0544966	Autophagic vaculoes (finding)	0.2	0	0	HPO
11155	LDB3	C0878544	Cardiomyopathies	0.200274726784213	0	0	HPO
11155	LDB3	C1832244	CARDIOMYOPATHY, DILATED, 1C (disorder)	0.48	2	5	CTD_human;UNIPROT
11155	LDB3	C1834696	Hyporeflexia of lower limbs	0.2	0	0	HPO
11155	LDB3	C1836057	Muscle fiber splitting	0.2	0	0	HPO
11155	LDB3	C1836155	Myopathy, Myofibrillar, Zasp-Related	0.4	0	0	CTD_human;ORPHANET
11155	LDB3	C1836156	Muscle weakness, progressive, proximal	0.2	0	0	HPO
11155	LDB3	C1836609	Muscle weakness, distal, progressive	0.2	0	0	HPO
11155	LDB3	C1960469	Left ventricular noncompaction	0.200274726784213	0	0	ORPHANET
11155	LDB3	C2678065	Myofibrillar Myopathy	0.200549453568426	0	0	HPO
11155	LDB3	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
11155	LDB3	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
11155	LDB3	C4021726	EMG: myopathic abnormalities	0.2	0	0	HPO
11155	LDB3	C4021727	EMG: neuropathic changes	0.2	0	0	HPO
11156	PTP4A3	C0009375	Colonic Neoplasms	0.200549453568426	1	0	CTD_human
1116	CHI3L1	C0017636	Glioblastoma	0.212869092726064	1	0	CTD_human
1116	CHI3L1	C0017638	Glioma	0.211770185589212	1	0	CTD_human
1116	CHI3L1	C0027626	Neoplasm Invasiveness	0.202732912464814	1	0	CTD_human
1116	CHI3L1	C0029408	Degenerative polyarthritis	0.201098907136852	1	0	CTD_human
1116	CHI3L1	C0036341	Schizophrenia	0.214558840831671	0	0	CTD_human
1116	CHI3L1	C2677770	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7	0.2	0	0	CTD_human
11160	ERLIN2	C0011168	Deglutition Disorders	0.2	0	0	HPO
11160	ERLIN2	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
11160	ERLIN2	C0034935	Babinski Reflex	0.2	0	0	HPO
11160	ERLIN2	C0037772	Spastic Paraplegia	0.200274726784213	0	0	HPO
11160	ERLIN2	C0037932	Curvature of spine	0.2	0	0	HPO
11160	ERLIN2	C0038379	Strabismus	0.2	0	0	HPO
11160	ERLIN2	C0151786	Muscle Weakness	0.2	0	0	HPO
11160	ERLIN2	C0151889	Hyperreflexia	0.2	0	0	HPO
11160	ERLIN2	C0231687	Spastic gait	0.2	0	0	HPO
11160	ERLIN2	C0234132	Pyramidal sign	0.2	0	0	HPO
11160	ERLIN2	C0234958	muscle degeneration	0.2	0	0	HPO
11160	ERLIN2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
11160	ERLIN2	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
11160	ERLIN2	C0427068	Monoparesis - leg	0.2	0	0	HPO
11160	ERLIN2	C0454596	Dysarthria, Spastic	0.2	0	0	HPO
11160	ERLIN2	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
11160	ERLIN2	C0542223	Loss of speech	0.2	0	0	HPO
11160	ERLIN2	C0575059	Spastic tetraparesis	0.2	0	0	HPO
11160	ERLIN2	C0575081	Gait abnormality	0.2	0	0	HPO
11160	ERLIN2	C0700208	Acquired scoliosis	0.2	0	0	HPO
11160	ERLIN2	C0728829	Congenital pes cavus	0.2	0	0	HPO
11160	ERLIN2	C0746940	nonverbal	0.2	0	0	HPO
11160	ERLIN2	C1273957	Upper limb spasticity	0.2	0	0	HPO
11160	ERLIN2	C1836150	Gait imbalance	0.2	0	0	HPO
11160	ERLIN2	C1836296	Weakness of lower limb	0.2	0	0	HPO
11160	ERLIN2	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
11160	ERLIN2	C1845112	Hyperkyphosis	0.2	0	0	HPO
11160	ERLIN2	C1853396	Primary lateral sclerosis juvenile	0.200274726784213	0	0	ORPHANET
11160	ERLIN2	C1854494	Slow progression	0.2	0	0	HPO
11160	ERLIN2	C1854882	Absent speech	0.2	0	0	HPO
11160	ERLIN2	C1864985	Progressive disorder	0.2	0	0	HPO
11160	ERLIN2	C2749936	SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)	0.2	0	0	ORPHANET
11160	ERLIN2	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
11160	ERLIN2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11160	ERLIN2	C4025720	Pseudobulbar behavioral symptoms	0.2	0	0	HPO
11160	ERLIN2	C4025723	Abnormal upper motor neuron morphology	0.2	0	0	HPO
11167	FSTL1	C0003504	Aortic Valve Insufficiency	0.2	1	0	CTD_human
11167	FSTL1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11167	FSTL1	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
11167	FSTL1	C0043094	Weight Gain	0.2	1	0	CTD_human
11167	FSTL1	C2609414	Acute kidney injury	0.2	1	0	CTD_human
11168	PSIP1	C0023467	Leukemia, Myelocytic, Acute	0.206839458850693	1	0	CTD_human
11170	FAM107A	C0017638	Glioma	0.2	1	0	CTD_human
11171	STRAP	C0009404	Colorectal Neoplasms	0.202732912464814	1	0	CTD_human
11173	ADAMTS7	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
11173	ADAMTS7	C1956346	Coronary Artery Disease	0.202472541057918	1	0	CTD_human
11176	BAZ2A	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1118	CHIT1	C0017205	Gaucher Disease	0.210685633829676	1	0	CTD_human
11186	RASSF1	C0001418	Adenocarcinoma	0.217525092680369	1	0	CTD_human
11186	RASSF1	C0005686	Urinary Bladder Diseases	0.2	1	0	CTD_human
11186	RASSF1	C0005695	Bladder Neoplasm	0.212319639157638	1	0	CTD_human
11186	RASSF1	C0007120	Bronchioloalveolar Adenocarcinoma	0.2	0	0	HPO
11186	RASSF1	C0007131	Non-Small Cell Lung Carcinoma	0.215044460597091	1	0	CTD_human
11186	RASSF1	C0007194	Hypertrophic Cardiomyopathy	0.2	1	0	CTD_human
11186	RASSF1	C0021390	Inflammatory Bowel Diseases	0.2	1	0	CTD_human
11186	RASSF1	C0024121	Lung Neoplasms	0.231450026411334	1	0	CTD_human
11186	RASSF1	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
11186	RASSF1	C0025149	Medulloblastoma	0.201923087489492	1	0	CTD_human
11186	RASSF1	C0025500	Mesothelioma	0.20328236603324	2	0	CTD_human
11186	RASSF1	C0036323	Schistosomiasis	0.2	1	0	CTD_human
11186	RASSF1	C1449861	Micronuclei, Chromosome-Defective	0.2	1	0	CTD_human
11186	RASSF1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11187	PKP3	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
11188	NISCH	C0020649	Hypotension	0.2	2	0	CTD_human
11188	NISCH	C0428977	Bradycardia	0.2	1	0	CTD_human
1119	CHKA	C0080178	Spina Bifida	0.200274726784213	1	0	CTD_human
11197	WIF1	C0009404	Colorectal Neoplasms	0.200549453568426	1	0	CTD_human
11197	WIF1	C0014859	Esophageal Neoplasms	0.200274726784213	1	0	CTD_human
11197	WIF1	C0027439	Nasopharyngeal Neoplasms	0.2	1	0	CTD_human
11197	WIF1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
112	ADCY6	C0003886	Arthrogryposis	0.200274726784213	0	0	HPO
112	ADCY6	C0026827	Muscle hypotonia	0.2	0	0	HPO
112	ADCY6	C0234146	Absent reflex	0.2	0	0	HPO
112	ADCY6	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
112	ADCY6	C0278124	Absent tendon reflex	0.2	0	0	HPO
112	ADCY6	C0476273	Respiratory distress	0.2	0	0	HPO
112	ADCY6	C0476403	Electromyogram abnormal	0.2	0	0	HPO
112	ADCY6	C1836003	Facial diplegia	0.2	0	0	HPO
112	ADCY6	C1857108	Decreased joint mobility	0.2	0	0	HPO
112	ADCY6	C1866934	Decreased to absent deep tendon reflexes	0.2	0	0	HPO
112	ADCY6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
112	ADCY6	C4225385	LETHAL CONGENITAL CONTRACTURE SYNDROME 8	0.2	1	2	UNIPROT
1120	CHKB	C0014544	Epilepsy	0.2	0	0	HPO
1120	CHKB	C0020757	Ichthyoses	0.2	0	0	HPO
1120	CHKB	C0023012	Language Delay	0.2	0	0	HPO
1120	CHKB	C0025362	Mental Retardation	0.2	0	0	HPO
1120	CHKB	C0026848	Myopathy	0.2	0	0	HPO
1120	CHKB	C0027404	Narcolepsy	0.201098907136852	1	0	CTD_human
1120	CHKB	C0036572	Seizures	0.2	0	0	HPO
1120	CHKB	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1120	CHKB	C0231712	Waddling gait	0.2	0	0	HPO
1120	CHKB	C0233715	Speech impairment	0.2	0	0	HPO
1120	CHKB	C0234182	Gowers sign	0.2	0	0	HPO
1120	CHKB	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1120	CHKB	C0241210	Speech Delay	0.2	0	0	HPO
1120	CHKB	C0376175	Bell Palsy	0.2	0	0	HPO
1120	CHKB	C0423903	Low intelligence	0.2	0	0	HPO
1120	CHKB	C0424688	Small head	0.2	0	0	HPO
1120	CHKB	C0427055	Facial Paresis	0.2	0	0	HPO
1120	CHKB	C0454644	Delayed speech and language development	0.2	0	0	HPO
1120	CHKB	C0575071	Gowers sign present	0.2	0	0	HPO
1120	CHKB	C0699743	Congenital muscular dystrophy (disorder)	0.201098907136852	0	0	HPO
1120	CHKB	C0917816	Mental deficiency	0.2	0	0	HPO
1120	CHKB	C1843367	Poor school performance	0.2	0	0	HPO
1120	CHKB	C1848207	Poor speech	0.2	0	0	HPO
1120	CHKB	C1854301	Motor delay	0.2	0	0	HPO
1120	CHKB	C1854494	Slow progression	0.2	0	0	HPO
1120	CHKB	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1120	CHKB	C1865233	Muscular Dystrophy, Congenital, Megaconial Type	0.280549453568426	0	0	ORPHANET
1120	CHKB	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1120	CHKB	C2752013	Prenatal onset	0.2	0	0	HPO
1120	CHKB	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
1120	CHKB	C4020874	No development of motor milestones	0.2	0	0	HPO
1120	CHKB	C4020876	Dull intelligence	0.2	0	0	HPO
1120	CHKB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1120	CHKB	C4280574	Problems speaking	0.2	0	0	HPO
11200	CHEK2	C0001618	Tumors of Adrenal Cortex	0.2	0	0	HPO
11200	CHEK2	C0006142	Malignant neoplasm of breast	0.314890301595064	1	1	UNIPROT
11200	CHEK2	C0007114	Malignant neoplasm of skin	0.2	0	0	HPO
11200	CHEK2	C0009375	Colonic Neoplasms	0.202681755307501	0	0	HPO
11200	CHEK2	C0009404	Colorectal Neoplasms	0.221537415776984	1	0	CTD_human
11200	CHEK2	C0017638	Glioma	0.20350593566014	0	0	HPO
11200	CHEK2	C0024121	Lung Neoplasms	0.207821696295603	1	0	CTD_human
11200	CHEK2	C0024299	Lymphoma	0.203831819601666	0	0	HPO
11200	CHEK2	C0024305	Lymphoma, Non-Hodgkin	0.200274726784213	1	0	CTD_human
11200	CHEK2	C0025286	Meningioma	0.202681755307501	0	0	HPO
11200	CHEK2	C0027766	Nervous System Neoplasms	0.2	0	0	HPO
11200	CHEK2	C0027819	Neuroblastoma	0.200274726784213	1	0	CTD_human
11200	CHEK2	C0029463	Osteosarcoma	0.603557092817453	1	2	CTD_human;HPO;ORPHANET
11200	CHEK2	C0030193	Pain	0.2	0	0	HPO
11200	CHEK2	C0030297	Pancreatic Neoplasm	0.209953998034678	0	0	HPO
11200	CHEK2	C0033578	Prostatic Neoplasms	0.224493897868698	1	0	CTD_human
11200	CHEK2	C0035335	Retinoblastoma	0.200274726784213	0	0	HPO
11200	CHEK2	C0037286	Skin Neoplasms	0.2	0	0	HPO
11200	CHEK2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
11200	CHEK2	C0085390	Li-Fraumeni Syndrome	0.410685633829676	2	0	CTD_human;ORPHANET
11200	CHEK2	C0152031	Joint swelling	0.2	0	0	HPO
11200	CHEK2	C0206720	Squamous Cell Neoplasms	0.2	1	0	CTD_human
11200	CHEK2	C0221204	Lytic lesion	0.2	0	0	HPO
11200	CHEK2	C0242788	Breast Neoplasms, Male	0.202732912464814	1	0	CTD_human
11200	CHEK2	C0346647	Malignant neoplasm of pancreas	0.200549453568426	0	0	HPO
11200	CHEK2	C0376358	Malignant neoplasm of prostate	0.218353858653341	4	12	UNIPROT
11200	CHEK2	C0524801	Retinal Neoplasms	0.2	0	0	HPO
11200	CHEK2	C0677776	Hereditary Breast and Ovarian Cancer Syndrome	0.201373633921065	0	0	ORPHANET
11200	CHEK2	C0678222	Breast Carcinoma	0.235714481947703	0	0	HPO
11200	CHEK2	C0699791	Stomach Carcinoma	0.201648360705279	0	0	HPO
11200	CHEK2	C0750857	Alkaline phosphatase serum increased	0.2	0	0	HPO
11200	CHEK2	C1261473	Sarcoma	0.200824180352639	0	0	HPO
11200	CHEK2	C1458155	Mammary Neoplasms	0.29210065515107	4	0	CTD_human
11200	CHEK2	C1836482	Li-Fraumeni Syndrome 2	0.4	6	2	CTD_human;UNIPROT
11200	CHEK2	C1838578	Encephalopathy, progressive	0.2	0	0	HPO
11200	CHEK2	C1842408	Increased risk of pancreatic cancer	0.2	0	0	HPO
11200	CHEK2	C2931456	Prostate cancer, familial	0.400824180352639	1	0	CTD_human;ORPHANET
11200	CHEK2	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
11200	CHEK2	C4025038	Abnormality of the tibial metaphysis	0.2	0	0	HPO
11200	CHEK2	C4025040	Abnormality of the femoral metaphysis	0.2	0	0	HPO
11200	CHEK2	C4073168	Abnormal lactate dehydrogenase activity	0.2	0	0	HPO
11200	CHEK2	C4280444	Abnormality of the wide portion of the femoral bone	0.2	0	0	HPO
11200	CHEK2	C4280575	Progressive brain disease	0.2	0	0	HPO
1121	CHM	C0008525	Choroideremia	0.707675628318937	3	13	CTD_human;HPO;ORPHANET;UNIPROT
1121	CHM	C0027092	Myopia	0.2	0	0	HPO
1121	CHM	C0028077	Night Blindness	0.2	0	0	HPO
1121	CHM	C0042798	Low Vision	0.2	0	0	HPO
1121	CHM	C0235095	Visual field constriction	0.2	0	0	HPO
1121	CHM	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
1121	CHM	C0521683	Chorioretinal degeneration	0.2	0	0	HPO
1121	CHM	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1121	CHM	C1839364	Progressive visual loss	0.2	0	0	HPO
1121	CHM	C1847879	X-linked dominant	0.2	0	0	HPO
1121	CHM	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1121	CHM	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1121	CHM	C3665347	Visual Impairment	0.2	0	0	HPO
1121	CHM	C4020885	Difficulties with night vision	0.2	0	0	HPO
1121	CHM	C4048273	Chorioretinal atrophy	0.2	0	0	HPO
11213	IRAK3	C0035126	Reperfusion Injury	0.2	1	0	CTD_human
11213	IRAK3	C1970224	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5	0.2	0	0	CTD_human
11214	AKAP13	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
11214	AKAP13	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
11216	AKAP10	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
11216	AKAP10	C0264886	Conduction disorder of the heart	0.2	0	0	CTD_human
11217	AKAP2	C0043094	Weight Gain	0.2	1	0	CTD_human
11221	DUSP10	C0021368	Inflammation	0.2	1	0	CTD_human
11222	MRPL3	C0007194	Hypertrophic Cardiomyopathy	0.200274726784213	0	0	HPO
11222	MRPL3	C0013404	Dyspnea	0.2	0	0	HPO
11222	MRPL3	C0019209	Hepatomegaly	0.2	0	0	HPO
11222	MRPL3	C0086565	Liver Dysfunction	0.2	0	0	HPO
11222	MRPL3	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
11222	MRPL3	C0231246	Failure to gain weight	0.2	0	0	HPO
11222	MRPL3	C0232466	Feeding difficulties	0.2	0	0	HPO
11222	MRPL3	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
11222	MRPL3	C0268630	Hyper-beta-alaninemia	0.2	0	0	HPO
11222	MRPL3	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
11222	MRPL3	C0438717	Transaminases increased	0.2	0	0	HPO
11222	MRPL3	C0557874	Global developmental delay	0.2	0	0	HPO
11222	MRPL3	C0877359	Liver function test increased	0.2	0	0	HPO
11222	MRPL3	C1836440	Increased serum lactate	0.2	0	0	HPO
11222	MRPL3	C1839424	Increased blood alanine	0.2	0	0	HPO
11222	MRPL3	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
11222	MRPL3	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
11222	MRPL3	C1849489	Increased serum alanine	0.2	0	0	HPO
11222	MRPL3	C1864897	Cognitive delay	0.2	0	0	HPO
11222	MRPL3	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
11222	MRPL3	C3281234	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	0.4	1	1	ORPHANET;UNIPROT
11222	MRPL3	C4020875	Mental and motor retardation	0.2	0	0	HPO
11222	MRPL3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11228	RASSF8	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
1123	CHN1	C0005744	Blepharophimosis	0.2	0	0	HPO
1123	CHN1	C0013261	Duane Retraction Syndrome	0.607663639203332	0	0	CTD_human;HPO;ORPHANET
1123	CHN1	C0014306	Enophthalmos	0.2	0	0	HPO
1123	CHN1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1123	CHN1	C0028866	Oculomotor Nerve Paralysis	0.2	0	0	HPO
1123	CHN1	C0038379	Strabismus	0.200274726784213	0	0	HPO
1123	CHN1	C0423112	Short palpebral fissure	0.2	0	0	HPO
1123	CHN1	C0423224	Sunken eyes	0.2	0	0	HPO
1123	CHN1	C0751083	Duane Retraction Syndrome, Type 2	0.200274726784213	1	9	UNIPROT
1123	CHN1	C1840077	Anteverted nostril	0.2	0	0	HPO
1123	CHN1	C1846464	Globe retraction and deviation on adduction	0.2	0	0	HPO
1123	CHN1	C1855728	Low posterior hairline	0.2	0	0	HPO
1123	CHN1	C4025167	Abnormal vertebral segmentation and fusion	0.2	0	0	HPO
1123	CHN1	C4072873	Limited eye motility from Duane anomaly	0.2	0	0	HPO
11230	PRAF2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11231	SEC63	C0000731	Abdomen distended	0.2	0	0	HPO
11231	SEC63	C0003962	Ascites	0.2	0	0	HPO
11231	SEC63	C0004604	Back Pain	0.2	0	0	HPO
11231	SEC63	C0007222	Cardiovascular Diseases	0.2	0	0	HPO
11231	SEC63	C0019209	Hepatomegaly	0.2	0	0	HPO
11231	SEC63	C0022679	Cystic kidney	0.2	0	0	HPO
11231	SEC63	C0022680	Polycystic Kidney Diseases	0.200274726784213	1	0	CTD_human
11231	SEC63	C0158683	Polycystic liver disease	0.603021994626344	1	5	CTD_human;HPO;ORPHANET
11231	SEC63	C0243050	Cardiovascular Abnormalities	0.2	0	0	HPO
11231	SEC63	C0431718	Multiple renal cysts	0.2	0	0	HPO
11231	SEC63	C0497552	Congenital neurologic anomalies	0.2	0	0	HPO
11231	SEC63	C0741494	Elevated total bilirubin	0.2	0	0	HPO
11231	SEC63	C3887499	Renal cyst	0.2	0	0	HPO
11232	POLG2	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
11232	POLG2	C0005745	Blepharoptosis	0.200274726784213	0	0	HPO
11232	POLG2	C0151576	Elevated creatine kinase	0.2	0	0	HPO
11232	POLG2	C0162674	Chronic progressive external ophthalmoplegia	0.203231208875927	0	0	HPO
11232	POLG2	C0231528	Myalgia	0.2	0	0	HPO
11232	POLG2	C0240421	Muscle weakness, progressive	0.2	0	0	HPO
11232	POLG2	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
11232	POLG2	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
11232	POLG2	C0271650	Impaired glucose tolerance	0.2	0	0	HPO
11232	POLG2	C0376175	Bell Palsy	0.2	0	0	HPO
11232	POLG2	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
11232	POLG2	C0427055	Facial Paresis	0.2	0	0	HPO
11232	POLG2	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
11232	POLG2	C0587246	Muscle weakness of limb	0.2	0	0	HPO
11232	POLG2	C0855329	Electrocardiogram change	0.2	0	0	HPO
11232	POLG2	C1832603	EKG abnormalities	0.2	0	0	HPO
11232	POLG2	C1834846	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1	0.2	0	0	ORPHANET
11232	POLG2	C1836440	Increased serum lactate	0.2	0	0	HPO
11232	POLG2	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
11232	POLG2	C1853562	Adult onset	0.2	0	0	HPO
11232	POLG2	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
11232	POLG2	C1861403	Variable expressivity	0.2	0	0	HPO
11232	POLG2	C1864668	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4	0.4	1	2	CTD_human;UNIPROT
11232	POLG2	C1864985	Progressive disorder	0.2	0	0	HPO
11232	POLG2	C1866862	Highly variable severity	0.2	0	0	HPO
11232	POLG2	C3277376	Multiple mitochondrial DNA (mtDNA) deletions	0.2	0	0	HPO
11232	POLG2	C4021724	Decreased activity of cytochrome C oxidase in muscle tissue	0.2	0	0	HPO
11234	HPS5	C0001916	Albinism	0.2	0	0	HPO
11234	HPS5	C0013491	Ecchymosis	0.2	0	0	HPO
11234	HPS5	C0040034	Thrombocytopenia	0.2	0	0	HPO
11234	HPS5	C0078917	Albinism, Ocular	0.2	0	0	HPO
11234	HPS5	C0333913	Achromasia	0.2	0	0	HPO
11234	HPS5	C0392386	Decreased platelet count	0.2	0	0	HPO
11234	HPS5	C0423798	Increased tendency to bruise	0.2	0	0	HPO
11234	HPS5	C2931875	Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	0.2	0	0	CTD_human
11234	HPS5	C3888004	HERMANSKY-PUDLAK SYNDROME 5	0.280274726784213	1	7	UNIPROT
11234	HPS5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11235	PDCD10	C0014544	Epilepsy	0.2	0	0	HPO
11235	PDCD10	C0018681	Headache	0.2	0	0	HPO
11235	PDCD10	C0036572	Seizures	0.200274726784213	0	0	HPO
11235	PDCD10	C0522224	Paralysed	0.2	0	0	HPO
11235	PDCD10	C0553692	Brain hemorrhage	0.2	0	0	HPO
11235	PDCD10	C1864040	Cerebral Cavernous Malformations 3	0.282197814273705	0	0	CTD_human
11235	PDCD10	C2919945	Cavernous Hemangioma of Brain	0.213461612426442	0	0	ORPHANET
11235	PDCD10	C2937358	Cerebral Hemorrhage	0.2	0	0	HPO
11235	PDCD10	C4021762	Abnormality of the cerebrum	0.2	0	0	HPO
11236	RNF139	C0007134	Renal Cell Carcinoma	0.400274726784213	0	0	CTD_human;HPO
11236	RNF139	C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	0.200549453568426	0	0	ORPHANET
11236	RNF139	C1333985	Hereditary Clear Cell Renal Cell Carcinoma	0.2	0	0	ORPHANET
11236	RNF139	C1853237	Isolated cases	0.2	0	0	HPO
112398	EGLN2	C1861063	TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)	0.2	1	0	CTD_human
1124	CHN2	C0023903	Liver neoplasms	0.2	1	0	CTD_human
1124	CHN2	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
11240	PADI2	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
11252	PACSIN2	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
11253	MAN1B1	C0001807	Aggressive behavior	0.2	0	0	HPO
11253	MAN1B1	C0014544	Epilepsy	0.2	0	0	HPO
11253	MAN1B1	C0020534	Orbital separation excessive	0.2	0	0	HPO
11253	MAN1B1	C0026351	Moderate mental retardation (I.Q. 35-49)	0.2	0	0	HPO
11253	MAN1B1	C0036572	Seizures	0.2	0	0	HPO
11253	MAN1B1	C0221358	Long narrow head	0.2	0	0	HPO
11253	MAN1B1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
11253	MAN1B1	C0424323	Physical aggression	0.2	0	0	HPO
11253	MAN1B1	C0426415	Large nose	0.2	0	0	HPO
11253	MAN1B1	C0557874	Global developmental delay	0.2	0	0	HPO
11253	MAN1B1	C1142533	Smooth philtrum	0.2	0	0	HPO
11253	MAN1B1	C1400105	Hypertrophy of nose	0.2	0	0	HPO
11253	MAN1B1	C1457883	Aggressive reaction	0.2	0	0	HPO
11253	MAN1B1	C1836047	Long face	0.2	0	0	HPO
11253	MAN1B1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
11253	MAN1B1	C1844505	Pointed chin	0.2	0	0	HPO
11253	MAN1B1	C1849367	Nasal bridge wide	0.2	0	0	HPO
11253	MAN1B1	C1856121	Broad eyebrows	0.2	0	0	HPO
11253	MAN1B1	C1858085	Malar flattening	0.2	0	0	HPO
11253	MAN1B1	C1861324	Short philtrum	0.2	0	0	HPO
11253	MAN1B1	C1864897	Cognitive delay	0.2	0	0	HPO
11253	MAN1B1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
11253	MAN1B1	C3280127	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	0.2	1	4	UNIPROT
11253	MAN1B1	C3280131	Long eyebrows	0.2	0	0	HPO
11253	MAN1B1	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
11253	MAN1B1	C4020875	Mental and motor retardation	0.2	0	0	HPO
11253	MAN1B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11253	MAN1B1	C4280629	Hyperplasia of nose	0.2	0	0	HPO
11253	MAN1B1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
11253	MAN1B1	C4280653	Turridolichocephaly	0.2	0	0	HPO
11253	MAN1B1	C4280654	Narrow skull shape	0.2	0	0	HPO
11253	MAN1B1	C4280655	Narrow head shape	0.2	0	0	HPO
11253	MAN1B1	C4280656	Narrow cranium shape	0.2	0	0	HPO
11254	SLC6A14	C0021843	Intestinal Obstruction	0.2	1	0	CTD_human
11254	SLC6A14	C1859047	CYSTIC FIBROSIS MODIFIER 1	0.2	1	0	CTD_human
11254	SLC6A14	C2678155	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11	0.2	0	0	CTD_human
11255	HRH3	C0002622	Amnesia	0.2	1	0	CTD_human
11255	HRH3	C0020538	Hypertensive disease	0.2	1	0	CTD_human
11255	HRH3	C0025261	Memory Disorders	0.2	1	0	CTD_human
11257	TP53TG1	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
112574	SNX18	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
11262	SP140	C0023434	Chronic Lymphocytic Leukemia	0.205912964183428	1	1	CTD_human
11262	SP140	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11274	USP18	C0023269	leiomyosarcoma	0.200274726784213	1	0	CTD_human
112744	IL17F	C0006845	Candidiasis, Chronic Mucocutaneous	0.200549453568426	0	0	ORPHANET
112744	IL17F	C3151405	CANDIDIASIS, FAMILIAL, 6	0.2	1	1	UNIPROT
112752	IFT43	C0432235	Cranioectodermal Dysplasia	0.200274726784213	0	0	ORPHANET
112755	STX1B	C0009952	Febrile Convulsions	0.200549453568426	1	0	CTD_human
112755	STX1B	C0014544	Epilepsy	0.200549453568426	1	0	CTD_human
112755	STX1B	C1858672	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	0.2	0	0	ORPHANET
112755	STX1B	C4015395	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	0.2	1	4	UNIPROT
11276	SYNRG	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11277	TREX1	C0003635	Apraxias	0.2	0	0	HPO
11277	TREX1	C0003862	Arthralgia	0.2	0	0	HPO
11277	TREX1	C0006111	Brain Diseases	0.200274726784213	1	0	CTD_human
11277	TREX1	C0013362	Dysarthria	0.2	0	0	HPO
11277	TREX1	C0013421	Dystonia	0.2	0	0	HPO
11277	TREX1	C0014544	Epilepsy	0.2	0	0	HPO
11277	TREX1	C0015371	Extrapyramidal Disorders	0.2	0	0	HPO
11277	TREX1	C0015967	Fever	0.2	0	0	HPO
11277	TREX1	C0018965	Hematuria	0.2	0	0	HPO
11277	TREX1	C0018989	Hemiparesis	0.2	0	0	HPO
11277	TREX1	C0019214	Hepatosplenomegaly	0.2	0	0	HPO
11277	TREX1	C0020796	Profound Mental Retardation	0.2	0	0	HPO
11277	TREX1	C0021368	Inflammation	0.2	1	0	CTD_human
11277	TREX1	C0021400	Influenza	0.2	1	0	CTD_human
11277	TREX1	C0022353	Neonatal Jaundice	0.2	0	0	HPO
11277	TREX1	C0023520	Leukodystrophy	0.201098907136852	0	0	HPO
11277	TREX1	C0024141	Lupus Erythematosus, Systemic	0.411993755216112	2	8	CTD_human;UNIPROT
11277	TREX1	C0024145	Chilblain lupus 1	0.602197814273705	3	1	CTD_human;ORPHANET;UNIPROT
11277	TREX1	C0026838	Muscle Spasticity	0.2	0	0	HPO
11277	TREX1	C0028738	Nystagmus	0.2	0	0	HPO
11277	TREX1	C0030196	Pain in limb	0.2	0	0	HPO
11277	TREX1	C0031256	Petechiae	0.2	0	0	HPO
11277	TREX1	C0033687	Proteinuria	0.2	0	0	HPO
11277	TREX1	C0034150	Purpura	0.2	0	0	HPO
11277	TREX1	C0035309	Retinal Diseases	0.200549453568426	0	0	HPO
11277	TREX1	C0035317	Retinal Hemorrhage	0.2	0	0	HPO
11277	TREX1	C0036572	Seizures	0.2	0	0	HPO
11277	TREX1	C0037299	Skin Ulcer	0.2	0	0	HPO
11277	TREX1	C0038379	Strabismus	0.2	0	0	HPO
11277	TREX1	C0038454	Cerebrovascular accident	0.200549453568426	0	0	HPO
11277	TREX1	C0039446	Telangiectasis	0.2	0	0	HPO
11277	TREX1	C0040034	Thrombocytopenia	0.2	0	0	HPO
11277	TREX1	C0042798	Low Vision	0.2	0	0	HPO
11277	TREX1	C0078982	Arhinencephaly	0.2	0	0	HPO
11277	TREX1	C0086565	Liver Dysfunction	0.2	0	0	HPO
11277	TREX1	C0149931	Migraine Disorders	0.200274726784213	0	0	HPO
11277	TREX1	C0151632	ESR raised	0.2	0	0	HPO
11277	TREX1	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
11277	TREX1	C0154671	Degenerative brain disorder	0.2	0	0	HPO
11277	TREX1	C0221347	Acrocyanosis	0.2	0	0	HPO
11277	TREX1	C0233514	Abnormal behavior	0.2	0	0	HPO
11277	TREX1	C0234133	Extrapyramidal sign	0.2	0	0	HPO
11277	TREX1	C0234985	Mental deterioration	0.2	0	0	HPO
11277	TREX1	C0235946	Cerebral atrophy	0.2	0	0	HPO
11277	TREX1	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
11277	TREX1	C0236048	Polyposis, Gastric	0.2	0	0	HPO
11277	TREX1	C0240897	Retinal exudates	0.2	0	0	HPO
11277	TREX1	C0262988	Vasculitis of the skin	0.2	0	0	HPO
11277	TREX1	C0270612	Leukoencephalopathies	0.2	0	0	HPO
11277	TREX1	C0271051	Macular retinal edema	0.2	0	0	HPO
11277	TREX1	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
11277	TREX1	C0392386	Decreased platelet count	0.2	0	0	HPO
11277	TREX1	C0393591	AICARDI-GOUTIERES SYNDROME	0.204945082115836	0	0	ORPHANET
11277	TREX1	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
11277	TREX1	C0438717	Transaminases increased	0.2	0	0	HPO
11277	TREX1	C0497327	Dementia	0.2	0	0	HPO
11277	TREX1	C0521573	Coloboma of eyelid	0.2	0	0	HPO
11277	TREX1	C0557874	Global developmental delay	0.2	0	0	HPO
11277	TREX1	C0744641	Intermittent migraine headaches	0.2	0	0	HPO
11277	TREX1	C0796126	AICARDI-GOUTIERES SYNDROME 1	0.48796707674218	8	22	CTD_human;UNIPROT
11277	TREX1	C0877359	Liver function test increased	0.2	0	0	HPO
11277	TREX1	C1138421	Spider Veins	0.2	0	0	HPO
11277	TREX1	C1389280	Basal ganglia calcification	0.2	0	0	HPO
11277	TREX1	C1833999	Pigmentary retinal degeneration	0.2	0	0	HPO
11277	TREX1	C1836038	Poor head control	0.2	0	0	HPO
11277	TREX1	C1836696	Lower limb hyperreflexia	0.2	0	0	HPO
11277	TREX1	C1838578	Encephalopathy, progressive	0.2	0	0	HPO
11277	TREX1	C1839364	Progressive visual loss	0.2	0	0	HPO
11277	TREX1	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
11277	TREX1	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
11277	TREX1	C1850456	Progressive microcephaly	0.2	0	0	HPO
11277	TREX1	C1853562	Adult onset	0.2	0	0	HPO
11277	TREX1	C1853743	Axial hypotonia	0.2	0	0	HPO
11277	TREX1	C1856979	Deep white matter hypodensities	0.2	0	0	HPO
11277	TREX1	C1856983	Increased CSF alpha-interferon	0.2	0	0	HPO
11277	TREX1	C1859236	Prolonged neonatal jaundice	0.2	0	0	HPO
11277	TREX1	C1860518	Vasculopathy, Retinal, With Cerebral Leukodystrophy	0.400274726784213	0	0	CTD_human;ORPHANET
11277	TREX1	C1864897	Cognitive delay	0.2	0	0	HPO
11277	TREX1	C1864985	Progressive disorder	0.2	0	0	HPO
11277	TREX1	C2673431	Periventricular white matter abnormalities	0.2	0	0	HPO
11277	TREX1	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
11277	TREX1	C3161330	Profound intellectual disabilities	0.2	0	0	HPO
11277	TREX1	C3277687	Central nervous system degeneration	0.2	0	0	HPO
11277	TREX1	C3277688	Progressive forgetfulness	0.2	0	0	HPO
11277	TREX1	C3277693	Punctate vasculitis skin lesions	0.2	0	0	HPO
11277	TREX1	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
11277	TREX1	C3665347	Visual Impairment	0.2	0	0	HPO
11277	TREX1	C4020859	Pyramidal tract disease	0.2	0	0	HPO
11277	TREX1	C4020860	Supratentorial atrophy	0.2	0	0	HPO
11277	TREX1	C4020871	Dystonic disease	0.2	0	0	HPO
11277	TREX1	C4020875	Mental and motor retardation	0.2	0	0	HPO
11277	TREX1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11277	TREX1	C4021761	Morphological abnormality of the pyramidal tract	0.2	0	0	HPO
11277	TREX1	C4024224	Chilblain lesions	0.2	0	0	HPO
11277	TREX1	C4024229	Chronic CSF lymphocytosis	0.2	0	0	HPO
11277	TREX1	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
11277	TREX1	C4024946	Focal white matter lesions	0.2	0	0	HPO
11277	TREX1	C4025784	Abnormality of the musculature of the lower limbs	0.2	0	0	HPO
11277	TREX1	C4082173	Porencephaly	0.2	0	0	HPO
11277	TREX1	C4280575	Progressive brain disease	0.2	0	0	HPO
11278	KLF12	C0036341	Schizophrenia	0.2	1	1	CTD_human
11278	KLF12	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1128	CHRM1	C0007786	Brain Ischemia	0.2	1	0	CTD_human
1128	CHRM1	C0014544	Epilepsy	0.2	1	0	CTD_human
1128	CHRM1	C0025261	Memory Disorders	0.2	1	0	CTD_human
1128	CHRM1	C0036341	Schizophrenia	0.207114185634906	4	0	PSYGENET
1128	CHRM1	C0036572	Seizures	0.2	5	0	CTD_human
1128	CHRM1	C0221765	Chronic schizophrenia	0.200274726784213	1	0	PSYGENET
11280	SCN11A	C0002768	Congenital Pain Insensitivity	0.400549453568426	1	0	CTD_human;ORPHANET
11280	SCN11A	C0009806	Constipation	0.2	0	0	HPO
11280	SCN11A	C0011991	Diarrhea	0.2	0	0	HPO
11280	SCN11A	C0013363	Dysautonomia	0.2	0	0	HPO
11280	SCN11A	C0014544	Epilepsy	0.2	0	0	HPO
11280	SCN11A	C0014805	Primary Erythermalgia	0.2	0	0	ORPHANET
11280	SCN11A	C0020075	Hereditary Sensory Autonomic Neuropathy, Type 5	0.2	0	0	ORPHANET
11280	SCN11A	C0020429	Hyperalgesia	0.2	1	0	CTD_human
11280	SCN11A	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
11280	SCN11A	C0036572	Seizures	0.2	0	0	HPO
11280	SCN11A	C0038990	Sweating	0.2	0	0	HPO
11280	SCN11A	C0151786	Muscle Weakness	0.2	0	0	HPO
11280	SCN11A	C0237326	Dyschezia	0.2	0	0	HPO
11280	SCN11A	C0344307	Absence of pain sensation	0.2	0	0	HPO
11280	SCN11A	C0700590	Increased sweating	0.2	0	0	HPO
11280	SCN11A	C1145628	Autonomic nervous system disorders	0.2	0	0	HPO
11280	SCN11A	C1833661	PAROXYSMAL EXTREME PAIN DISORDER	0.2	0	0	ORPHANET
11280	SCN11A	C1854301	Motor delay	0.2	0	0	HPO
11280	SCN11A	C3809882	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	0.48	2	1	ORPHANET;UNIPROT
11280	SCN11A	C3809899	EPISODIC PAIN SYNDROME, FAMILIAL, 3	0.4	4	5	ORPHANET;UNIPROT
11280	SCN11A	C4020874	No development of motor milestones	0.2	0	0	HPO
11281	POU6F2	C0000737	Abdominal Pain	0.2	0	0	HPO
11281	POU6F2	C0004352	Autistic Disorder	0.202407028523288	1	0	CTD_human
11281	POU6F2	C0027708	Nephroblastoma	0.40328236603324	0	0	HPO;ORPHANET
11281	POU6F2	C1832099	Wilms tumor and radial bilateral aplasia	0.4	1	1	CTD_human;UNIPROT
112817	HOGA1	C3150878	HYPEROXALURIA, PRIMARY, TYPE III	0.680274726784213	1	29	CTD_human;ORPHANET;UNIPROT
112849	L3HYPDH	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
11285	B4GALT7	C0003507	Aortic Valve Stenosis	0.2	0	0	HPO
11285	B4GALT7	C0003706	Arachnodactyly	0.2	0	0	HPO
11285	B4GALT7	C0009917	Contracture	0.2	0	0	HPO
11285	B4GALT7	C0009918	Contracture of joint	0.2	0	0	HPO
11285	B4GALT7	C0010417	Cryptorchidism	0.2	0	0	HPO
11285	B4GALT7	C0010495	Cutis Laxa	0.2	0	0	HPO
11285	B4GALT7	C0015300	Exophthalmos	0.2	0	0	HPO
11285	B4GALT7	C0016202	Flatfoot	0.2	0	0	HPO
11285	B4GALT7	C0017574	Gingivitis	0.2	0	0	HPO
11285	B4GALT7	C0023787	Lipodystrophy	0.2	0	0	HPO
11285	B4GALT7	C0026034	Microstomia	0.2	0	0	HPO
11285	B4GALT7	C0026827	Muscle hypotonia	0.2	0	0	HPO
11285	B4GALT7	C0029422	Osteochondrodysplasias	0.2	0	0	HPO
11285	B4GALT7	C0029453	Osteopenia	0.2	0	0	HPO
11285	B4GALT7	C0037856	Spermatic Cord Torsion	0.2	0	0	HPO
11285	B4GALT7	C0086437	Joint laxity	0.2	0	0	HPO
11285	B4GALT7	C0158761	Radioulnar Synostosis	0.2	0	0	HPO
11285	B4GALT7	C0162154	Atrophic scar	0.2	0	0	HPO
11285	B4GALT7	C0231246	Failure to gain weight	0.2	0	0	HPO
11285	B4GALT7	C0234958	muscle degeneration	0.2	0	0	HPO
11285	B4GALT7	C0239137	Coxa valga	0.2	0	0	HPO
11285	B4GALT7	C0241074	Skin hyperelastic	0.2	0	0	HPO
11285	B4GALT7	C0264133	Acquired flat foot	0.2	0	0	HPO
11285	B4GALT7	C0266122	Cleft uvula	0.2	0	0	HPO
11285	B4GALT7	C0266617	Congenital anomaly of face	0.2	0	0	HPO
11285	B4GALT7	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
11285	B4GALT7	C0333068	Flexion contracture	0.2	0	0	HPO
11285	B4GALT7	C0349588	Short stature	0.2	0	0	HPO
11285	B4GALT7	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
11285	B4GALT7	C0423113	Telecanthus	0.2	0	0	HPO
11285	B4GALT7	C0423757	Thin skin	0.2	0	0	HPO
11285	B4GALT7	C0424503	Dysmorphic facies	0.2	0	0	HPO
11285	B4GALT7	C0424731	Single transverse palmar crease	0.2	0	0	HPO
11285	B4GALT7	C0426790	Narrow thorax	0.2	0	0	HPO
11285	B4GALT7	C0426799	Congenital hypoplasia of clavicle	0.2	0	0	HPO
11285	B4GALT7	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
11285	B4GALT7	C0557874	Global developmental delay	0.2	0	0	HPO
11285	B4GALT7	C0678230	Congenital Epicanthus	0.2	0	0	HPO
11285	B4GALT7	C0747078	Generalized osteopenia	0.2	0	0	HPO
11285	B4GALT7	C1260926	Abnormal pigmentation	0.2	0	0	HPO
11285	B4GALT7	C1385263	facial deformity	0.2	0	0	HPO
11285	B4GALT7	C1832446	Sparse eyebrow	0.2	0	0	HPO
11285	B4GALT7	C1837760	Prominent eyes	0.2	0	0	HPO
11285	B4GALT7	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
11285	B4GALT7	C1843300	Sparse eyelashes	0.2	0	0	HPO
11285	B4GALT7	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
11285	B4GALT7	C1848490	Protruding eyes	0.2	0	0	HPO
11285	B4GALT7	C1849364	Absent earlobe	0.2	0	0	HPO
11285	B4GALT7	C1849367	Nasal bridge wide	0.2	0	0	HPO
11285	B4GALT7	C1850530	Flexion contractures of joints	0.2	0	0	HPO
11285	B4GALT7	C1851797	Cutis gyrata of palms and soles	0.2	0	0	HPO
11285	B4GALT7	C1855538	Small face	0.2	0	0	HPO
11285	B4GALT7	C1857042	Sparse scalp hair	0.2	0	0	HPO
11285	B4GALT7	C1857710	Wizened face	0.2	0	0	HPO
11285	B4GALT7	C1862425	Prominent globes	0.2	0	0	HPO
11285	B4GALT7	C1864897	Cognitive delay	0.2	0	0	HPO
11285	B4GALT7	C1869122	EHLERS-DANLOS SYNDROME, PROGEROID FORM	0.600824180352639	1	7	CTD_human;ORPHANET;UNIPROT
11285	B4GALT7	C1956257	Pulmonary Stenosis	0.2	0	0	HPO
11285	B4GALT7	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
11285	B4GALT7	C2930812	Generalized elastolysis	0.2	0	0	HPO
11285	B4GALT7	C3150613	Long toes	0.2	0	0	HPO
11285	B4GALT7	C3549698	Coxa valga deformity	0.2	0	0	HPO
11285	B4GALT7	C4020875	Mental and motor retardation	0.2	0	0	HPO
11285	B4GALT7	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11285	B4GALT7	C4021168	Slender toe	0.2	0	0	HPO
11285	B4GALT7	C4072832	Distortion of face	0.2	0	0	HPO
11285	B4GALT7	C4072833	Funny looking face	0.2	0	0	HPO
11285	B4GALT7	C4083076	Increased head circumference	0.2	0	0	HPO
11285	B4GALT7	C4255213	Increased size of skull	0.2	0	0	HPO
11285	B4GALT7	C4280567	Abnormal skeletal development	0.2	0	0	HPO
11285	B4GALT7	C4280606	Hanging skin	0.2	0	0	HPO
11285	B4GALT7	C4280663	Increased size of cranium	0.2	0	0	HPO
11285	B4GALT7	C4280664	Big calvaria	0.2	0	0	HPO
112869	SGF29	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1129	CHRM2	C0001973	Alcoholic Intoxication, Chronic	0.20761248204602	5	0	PSYGENET
1129	CHRM2	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1129	CHRM2	C0005697	Neurogenic Urinary Bladder	0.202732912464814	1	0	CTD_human
1129	CHRM2	C0011570	Mental Depression	0.205912964183428	4	0	PSYGENET
1129	CHRM2	C0011581	Depressive disorder	0.281098907136852	4	0	PSYGENET
1129	CHRM2	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1129	CHRM2	C0011854	Diabetes Mellitus, Insulin-Dependent	0.2	1	0	CTD_human
1129	CHRM2	C0011882	Diabetic Neuropathies	0.2	1	0	CTD_human
1129	CHRM2	C0014544	Epilepsy	0.2	1	0	CTD_human
1129	CHRM2	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
1129	CHRM2	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1129	CHRM2	C0428977	Bradycardia	0.2	1	0	CTD_human
1129	CHRM2	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
113	ADCY7	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
113	ADCY7	C0011570	Mental Depression	0.200274726784213	1	0	PSYGENET
113	ADCY7	C0011581	Depressive disorder	0.200549453568426	2	0	PSYGENET
113	ADCY7	C0023467	Leukemia, Myelocytic, Acute	0.200274726784213	1	0	CTD_human
113	ADCY7	C0036341	Schizophrenia	0.2	1	0	CTD_human
113	ADCY7	C0041696	Unipolar Depression	0.200549453568426	2	0	PSYGENET
113	ADCY7	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
113	ADCY7	C1269683	Major Depressive Disorder	0.200549453568426	2	0	PSYGENET
113	ADCY7	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1130	LYST	C0002418	Amblyopia	0.2	0	0	HPO
1130	LYST	C0002871	Anemia	0.2	0	0	HPO
1130	LYST	C0005779	Blood Coagulation Disorders	0.2	0	0	HPO
1130	LYST	C0007965	Chediak-Higashi Syndrome	0.688776901717502	2	41	CTD_human;ORPHANET;UNIPROT
1130	LYST	C0013491	Ecchymosis	0.2	0	0	HPO
1130	LYST	C0013604	Edema	0.2	0	0	HPO
1130	LYST	C0014544	Epilepsy	0.2	0	0	HPO
1130	LYST	C0014591	Epistaxis	0.2	0	0	HPO
1130	LYST	C0015967	Fever	0.2	0	0	HPO
1130	LYST	C0017563	Gingival Diseases	0.2	0	0	HPO
1130	LYST	C0017565	Gingival Hemorrhage	0.2	0	0	HPO
1130	LYST	C0017574	Gingivitis	0.2	0	0	HPO
1130	LYST	C0019087	Hemorrhagic Disorders	0.2	0	0	HPO
1130	LYST	C0019209	Hepatomegaly	0.2	0	0	HPO
1130	LYST	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1130	LYST	C0022346	Icterus	0.2	0	0	HPO
1130	LYST	C0023530	Leukopenia	0.2	0	0	HPO
1130	LYST	C0024299	Lymphoma	0.2	0	0	HPO
1130	LYST	C0025362	Mental Retardation	0.2	0	0	HPO
1130	LYST	C0027746	Nerve Degeneration	0.2	0	0	HPO
1130	LYST	C0028738	Nystagmus	0.2	0	0	HPO
1130	LYST	C0030554	Paresthesia	0.2	0	0	HPO
1130	LYST	C0031090	Periodontal Diseases	0.2	0	0	HPO
1130	LYST	C0031099	Periodontitis	0.2	0	0	HPO
1130	LYST	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1130	LYST	C0036572	Seizures	0.200274726784213	0	0	HPO
1130	LYST	C0037299	Skin Ulcer	0.2	0	0	HPO
1130	LYST	C0038002	Splenomegaly	0.2	0	0	HPO
1130	LYST	C0038379	Strabismus	0.2	0	0	HPO
1130	LYST	C0040034	Thrombocytopenia	0.2	0	0	HPO
1130	LYST	C0040822	Tremor	0.2	0	0	HPO
1130	LYST	C0042798	Low Vision	0.2	0	0	HPO
1130	LYST	C0078917	Albinism, Ocular	0.200274726784213	0	0	HPO
1130	LYST	C0085636	Photophobia	0.2	0	0	HPO
1130	LYST	C0085684	Foot-drop	0.2	0	0	HPO
1130	LYST	C0151311	Cranial nerve palsies	0.2	0	0	HPO
1130	LYST	C0154920	Pigmentary iris degeneration	0.2	0	0	HPO
1130	LYST	C0162119	Hemoglobin low	0.2	0	0	HPO
1130	LYST	C0162835	Hypopigmentation disorder	0.2	0	0	HPO
1130	LYST	C0234146	Absent reflex	0.2	0	0	HPO
1130	LYST	C0234632	Reduced visual acuity	0.2	0	0	HPO
1130	LYST	C0239804	White hair	0.2	0	0	HPO
1130	LYST	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1130	LYST	C0278124	Absent tendon reflex	0.2	0	0	HPO
1130	LYST	C0392386	Decreased platelet count	0.2	0	0	HPO
1130	LYST	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1130	LYST	C0423903	Low intelligence	0.2	0	0	HPO
1130	LYST	C0442874	Neuropathy	0.2	0	0	HPO
1130	LYST	C0497156	Lymphadenopathy	0.2	0	0	HPO
1130	LYST	C0524851	Neurodegenerative Disorders	0.200549453568426	0	0	HPO
1130	LYST	C0557874	Global developmental delay	0.2	0	0	HPO
1130	LYST	C0575081	Gait abnormality	0.2	0	0	HPO
1130	LYST	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1130	LYST	C0853697	Neutrophil count decreased	0.2	0	0	HPO
1130	LYST	C0917816	Mental deficiency	0.2	0	0	HPO
1130	LYST	C1835686	Recurrent bacterial skin infections	0.2	0	0	HPO
1130	LYST	C1843367	Poor school performance	0.2	0	0	HPO
1130	LYST	C1846821	Coagulation abnormalities	0.2	0	0	HPO
1130	LYST	C1849412	Macular hypoplasia	0.2	0	0	HPO
1130	LYST	C1849923	Generalized hypopigmentation	0.2	0	0	HPO
1130	LYST	C1857640	Decreased nerve conduction velocity	0.2	0	0	HPO
1130	LYST	C1859178	Progressive peripheral neuropathy	0.2	0	0	HPO
1130	LYST	C1864897	Cognitive delay	0.2	0	0	HPO
1130	LYST	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
1130	LYST	C3278401	Hair hypopigmentation	0.2	0	0	HPO
1130	LYST	C3665347	Visual Impairment	0.2	0	0	HPO
1130	LYST	C3714756	Intellectual Disability	0.2	0	0	HPO
1130	LYST	C3806221	Giant melanosomes in melanocytes	0.2	0	0	HPO
1130	LYST	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1130	LYST	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
1130	LYST	C4020875	Mental and motor retardation	0.2	0	0	HPO
1130	LYST	C4020876	Dull intelligence	0.2	0	0	HPO
1130	LYST	C4020887	Photodysphoria	0.2	0	0	HPO
1130	LYST	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1130	LYST	C4021957	Recurrent cutaneous abscess formation	0.2	0	0	HPO
1130	LYST	C4023024	Abnormality of multiple cell lineages in the bone marrow	0.2	0	0	HPO
1130	LYST	C4025196	Recurrent systemic pyogenic infections	0.2	0	0	HPO
1131	CHRM3	C0003466	Anus, Imperforate	0.2	0	0	HPO
1131	CHRM3	C0003962	Ascites	0.2	1	0	CTD_human
1131	CHRM3	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1131	CHRM3	C0005686	Urinary Bladder Diseases	0.200274726784213	1	0	CTD_human
1131	CHRM3	C0009081	Congenital clubfoot	0.2	0	0	HPO
1131	CHRM3	C0009806	Constipation	0.200274726784213	0	0	HPO
1131	CHRM3	C0010417	Cryptorchidism	0.4	1	0	CTD_human;HPO
1131	CHRM3	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
1131	CHRM3	C0018798	Congenital Heart Defects	0.2	0	0	HPO
1131	CHRM3	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1131	CHRM3	C0020295	Hydronephrosis	0.2	0	0	HPO
1131	CHRM3	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
1131	CHRM3	C0033770	Prune Belly Syndrome	0.600274726784213	1	1	CTD_human;HPO;ORPHANET
1131	CHRM3	C0035078	Kidney Failure	0.2	0	0	HPO
1131	CHRM3	C0037268	Skin Abnormalities	0.2	0	0	HPO
1131	CHRM3	C0037274	Dermatologic disorders	0.2	0	0	HPO
1131	CHRM3	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
1131	CHRM3	C0042580	Vesico-Ureteral Reflux	0.2	0	0	HPO
1131	CHRM3	C0043352	Xerostomia	0.2	0	0	HPO
1131	CHRM3	C0079924	Oligohydramnios	0.2	0	0	HPO
1131	CHRM3	C0152021	Congenital heart disease	0.2	0	0	HPO
1131	CHRM3	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1131	CHRM3	C0237326	Dyschezia	0.2	0	0	HPO
1131	CHRM3	C0238506	Congenital posterior urethral valves	0.2	0	0	HPO
1131	CHRM3	C0241355	Small testicle	0.2	0	0	HPO
1131	CHRM3	C0262655	Recurrent urinary tract infection	0.2	0	0	HPO
1131	CHRM3	C0265363	Urethral obstruction sequence	0.2	0	0	ORPHANET
1131	CHRM3	C0520927	Decreased fertility	0.2	0	0	HPO
1131	CHRM3	C0521620	Dilatation of ureter	0.2	0	0	HPO
1131	CHRM3	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1131	CHRM3	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1131	CHRM3	C1565489	Renal Insufficiency	0.2	0	0	HPO
1131	CHRM3	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1131	CHRM3	C1842083	Abnormality of the ribs	0.2	0	0	HPO
1131	CHRM3	C2051831	Pectus excavatum	0.2	0	0	HPO
1131	CHRM3	C3149223	Absent abdominal musculature	0.2	0	0	HPO
1131	CHRM3	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
1131	CHRM3	C3714581	Multicystic Dysplastic Kidney	0.2	0	0	HPO
1131	CHRM3	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1131	CHRM3	C4020897	Uroureter	0.2	0	0	HPO
1131	CHRM3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1131	CHRM3	C4024996	Aplasia/Hypoplasia of the lungs	0.2	0	0	HPO
1131	CHRM3	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
11311	VPS45	C0002871	Anemia	0.2	0	0	HPO
11311	VPS45	C0019209	Hepatomegaly	0.2	0	0	HPO
11311	VPS45	C0020455	Hypergammaglobulinemia	0.2	0	0	HPO
11311	VPS45	C0023530	Leukopenia	0.2	0	0	HPO
11311	VPS45	C0038002	Splenomegaly	0.2	0	0	HPO
11311	VPS45	C0040034	Thrombocytopenia	0.2	0	0	HPO
11311	VPS45	C0151669	gamma globulins increased	0.2	0	0	HPO
11311	VPS45	C0162119	Hemoglobin low	0.2	0	0	HPO
11311	VPS45	C0231246	Failure to gain weight	0.2	0	0	HPO
11311	VPS45	C0392386	Decreased platelet count	0.2	0	0	HPO
11311	VPS45	C0541985	Globulin gamma serum plasma increased result	0.2	0	0	HPO
11311	VPS45	C0853697	Neutrophil count decreased	0.2	0	0	HPO
11311	VPS45	C1292120	Extramedullary erythropoiesis	0.2	0	0	HPO
11311	VPS45	C1306857	Hyperglobulinemia	0.2	0	0	HPO
11311	VPS45	C1848924	Infantile onset	0.2	0	0	HPO
11311	VPS45	C1853118	Severe congenital neutropenia	0.200549453568426	1	0	CTD_human
11311	VPS45	C2048011	Raised level of immunoglobulins NOS	0.2	0	0	HPO
11311	VPS45	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
11311	VPS45	C2613439	Extramedullary Hematopoiesis (disorder)	0.2	0	0	HPO
11311	VPS45	C2931351	Familial myelofibrosis	0.2	1	0	CTD_human
11311	VPS45	C3809031	NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	0.4	1	2	ORPHANET;UNIPROT
11311	VPS45	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11315	PARK7	C0003467	Anxiety	0.2	0	0	HPO
11315	PARK7	C0005747	Blepharospasm	0.2	0	0	HPO
11315	PARK7	C0026837	Muscle Rigidity	0.2	0	0	HPO
11315	PARK7	C0029456	Osteoporosis	0.2	1	0	CTD_human
11315	PARK7	C0030567	Parkinson Disease	0.305236237771581	9	0	CTD_human
11315	PARK7	C0206160	Reticulocytosis	0.2	1	0	CTD_human
11315	PARK7	C0233565	Bradykinesia	0.2	0	0	HPO
11315	PARK7	C0234378	Static Tremor	0.2	0	0	HPO
11315	PARK7	C0234379	Resting Tremor	0.2	0	0	HPO
11315	PARK7	C0242422	Parkinsonian Disorders	0.21998327836097	1	0	CTD_human
11315	PARK7	C0338614	Psychotic episodes	0.2	0	0	HPO
11315	PARK7	C0520459	Necrotizing Enterocolitis	0.2	1	0	CTD_human
11315	PARK7	C0543859	Amyotrophic Lateral Sclerosis, Guam Form	0.2	0	0	ORPHANET
11315	PARK7	C1853445	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	0.481373633921066	4	5	CTD_human;UNIPROT
11315	PARK7	C1853562	Adult onset	0.2	0	0	HPO
11315	PARK7	C1854494	Slow progression	0.2	0	0	HPO
11315	PARK7	C2239176	Liver carcinoma	0.200549453568426	1	0	CTD_human
11315	PARK7	C3809811	PARKINSON DISEASE 19, JUVENILE-ONSET	0.2	0	0	ORPHANET
11315	PARK7	C4020884	Anxiety disease	0.2	0	0	HPO
11315	PARK7	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11315	PARK7	C4275179	Young onset Parkinson disease	0.204945082115836	0	0	ORPHANET
113179	ADAT3	C3809039	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36	0.4	1	1	ORPHANET;UNIPROT
113189	CHST14	C0009081	Congenital clubfoot	0.200274726784213	1	0	CTD_human
113189	CHST14	C0022410	Joint Instability	0.2	1	0	CTD_human
113189	CHST14	C0026827	Muscle hypotonia	0.2	1	0	CTD_human
113189	CHST14	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
113189	CHST14	C0431886	Thumb in palm deformity	0.2	1	0	CTD_human
113189	CHST14	C1866294	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	0.601098907136852	2	10	CTD_human;ORPHANET;UNIPROT
1132	CHRM4	C0007398	Catatonia	0.2	1	0	CTD_human
1132	CHRM4	C0036341	Schizophrenia	0.203557092817453	2	0	PSYGENET
1132	CHRM4	C0040822	Tremor	0.2	1	0	CTD_human
113201	CASC4	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
11321	GPN1	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
11322	TMC6	C0007117	Basal cell carcinoma	0.2	0	0	HPO
11322	TMC6	C0014522	Epidermodysplasia Verruciformis	0.412044912373425	0	0	CTD_human;ORPHANET
11322	TMC6	C0036508	Seborrheic dermatitis	0.2	0	0	HPO
11322	TMC6	C0241148	Cutaneous plaque	0.2	0	0	HPO
11322	TMC6	C0241157	pustule	0.2	0	0	HPO
11322	TMC6	C0332563	Papule	0.2	0	0	HPO
11322	TMC6	C0542346	Pimples	0.2	0	0	HPO
11322	TMC6	C1836735	hypopigmented skin patch	0.2	0	0	HPO
11322	TMC6	C1853193	Recurrent skin infections	0.2	0	0	HPO
11322	TMC6	C1861975	Cafe au lait spots, multiple	0.2	0	0	HPO
11322	TMC6	C1862314	Basal cell nevi	0.2	0	0	HPO
11322	TMC6	C3665596	Warts	0.2	0	0	HPO
11322	TMC6	C3806554	Dysseborrheic dermatitis	0.2	0	0	HPO
11322	TMC6	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
113235	SLC46A1	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
113235	SLC46A1	C0002871	Anemia	0.2	1	0	CTD_human
113235	SLC46A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
113235	SLC46A1	C0024523	Malabsorption Syndrome	0.203007639249027	2	0	CTD_human
113235	SLC46A1	C0030312	Pancytopenia	0.2	1	0	CTD_human
113235	SLC46A1	C0342705	Folate Malabsorption, Hereditary	0.605494535684262	5	15	CTD_human;ORPHANET;UNIPROT
113235	SLC46A1	C0598608	Hyperhomocysteinemia	0.2	1	0	CTD_human
113246	C12orf57	C1857512	Temtamy syndrome	0.4	1	3	ORPHANET;UNIPROT
113246	C12orf57	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
113251	LARP4	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
113277	TMEM106A	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
113278	SLC52A3	C0030442	Progressive bulbar palsy	0.200274726784213	0	0	CTD_human
113278	SLC52A3	C0279626	Squamous cell carcinoma of esophagus	0.202472541057918	1	0	CTD_human
113278	SLC52A3	C0796274	Brown-Vialetto-Van Laere syndrome	0.602747267842131	4	28	CTD_human;ORPHANET;UNIPROT
11330	CTRC	C0149521	Pancreatitis, Chronic	0.214074899797874	1	0	CTD_human
11330	CTRC	C0238339	Hereditary pancreatitis	0.601648360705279	1	8	CTD_human;ORPHANET;UNIPROT
11330	CTRC	C1842402	TROPICAL CALCIFIC PANCREATITIS	0.200549453568426	0	0	ORPHANET
11337	GABARAP	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1134	CHRNA1	C0003886	Arthrogryposis	0.2	0	0	HPO
1134	CHRNA1	C0005745	Blepharoptosis	0.2	0	0	HPO
1134	CHRNA1	C0008925	Cleft Palate	0.2	0	0	HPO
1134	CHRNA1	C0009917	Contracture	0.2	0	0	HPO
1134	CHRNA1	C0009918	Contracture of joint	0.2	0	0	HPO
1134	CHRNA1	C0011168	Deglutition Disorders	0.2	0	0	HPO
1134	CHRNA1	C0013362	Dysarthria	0.2	0	0	HPO
1134	CHRNA1	C0013604	Edema	0.2	0	0	HPO
1134	CHRNA1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1134	CHRNA1	C0016059	Fibrosis	0.2	1	0	CTD_human
1134	CHRNA1	C0020224	Polyhydramnios	0.2	0	0	HPO
1134	CHRNA1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1134	CHRNA1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1134	CHRNA1	C0024591	Malignant hyperpyrexia due to anesthesia	0.2	0	0	HPO
1134	CHRNA1	C0025990	Micrognathism	0.2	0	0	HPO
1134	CHRNA1	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1134	CHRNA1	C0037932	Curvature of spine	0.2	0	0	HPO
1134	CHRNA1	C0085623	Akinesia	0.2	0	0	HPO
1134	CHRNA1	C0152421	Macrotia	0.2	0	0	HPO
1134	CHRNA1	C0206620	Lymphangioma, Cystic	0.2	0	0	HPO
1134	CHRNA1	C0232466	Feeding difficulties	0.2	0	0	HPO
1134	CHRNA1	C0234182	Gowers sign	0.2	0	0	HPO
1134	CHRNA1	C0234860	Weak cry	0.2	0	0	HPO
1134	CHRNA1	C0239234	Low set ears	0.2	0	0	HPO
1134	CHRNA1	C0239594	Short finger	0.2	0	0	HPO
1134	CHRNA1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1134	CHRNA1	C0240479	Neck muscle weakness	0.2	0	0	HPO
1134	CHRNA1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1134	CHRNA1	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1134	CHRNA1	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1134	CHRNA1	C0333068	Flexion contracture	0.2	0	0	HPO
1134	CHRNA1	C0376175	Bell Palsy	0.2	0	0	HPO
1134	CHRNA1	C0424503	Dysmorphic facies	0.2	0	0	HPO
1134	CHRNA1	C0424585	Tires quickly	0.2	0	0	HPO
1134	CHRNA1	C0426818	Thin rib	0.2	0	0	HPO
1134	CHRNA1	C0427055	Facial Paresis	0.2	0	0	HPO
1134	CHRNA1	C0432185	Aplasia of muscle	0.2	0	0	HPO
1134	CHRNA1	C0554972	Large auricle	0.2	0	0	HPO
1134	CHRNA1	C0575071	Gowers sign present	0.2	0	0	HPO
1134	CHRNA1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1134	CHRNA1	C0700208	Acquired scoliosis	0.2	0	0	HPO
1134	CHRNA1	C0746674	Generalized muscle weakness	0.2	0	0	HPO
1134	CHRNA1	C0751401	Ophthalmoparesis	0.2	0	0	HPO
1134	CHRNA1	C0751883	Congenital Myasthenic Syndromes, Postsynaptic	0.2	0	0	ORPHANET
1134	CHRNA1	C0947912	Myasthenias	0.2	0	0	HPO
1134	CHRNA1	C1276035	Pena-Shokeir syndrome type I	0.2	0	0	HPO
1134	CHRNA1	C1301959	Bulbar weakness	0.2	0	0	HPO
1134	CHRNA1	C1385263	facial deformity	0.2	0	0	HPO
1134	CHRNA1	C1386048	Intrauterine retardation	0.2	0	0	HPO
1134	CHRNA1	C1390474	Increased susceptibility to fractures	0.2	0	0	HPO
1134	CHRNA1	C1835581	Large protruding ears	0.2	0	0	HPO
1134	CHRNA1	C1835763	Vertebral body fusion	0.2	0	0	HPO
1134	CHRNA1	C1837098	Easy fatigability	0.2	0	0	HPO
1134	CHRNA1	C1837122	Myasthenic Syndrome, Congenital, Fast-Channel	0.2	0	0	CTD_human
1134	CHRNA1	C1837142	Poor suck	0.2	0	0	HPO
1134	CHRNA1	C1842876	Depressed nasal ridge	0.2	0	0	HPO
1134	CHRNA1	C1844548	Hypoplastic finger	0.2	0	0	HPO
1134	CHRNA1	C1848570	Large, floppy ears	0.2	0	0	HPO
1134	CHRNA1	C1848924	Infantile onset	0.2	0	0	HPO
1134	CHRNA1	C1849073	Fused vertebrae	0.2	0	0	HPO
1134	CHRNA1	C1850189	Large pinnae	0.2	0	0	HPO
1134	CHRNA1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1134	CHRNA1	C1853952	Decreased miniature endplate potentials (MEPP)	0.2	0	0	HPO
1134	CHRNA1	C1854301	Motor delay	0.2	0	0	HPO
1134	CHRNA1	C1854678	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	0.6	1	1	CTD_human;ORPHANET;UNIPROT
1134	CHRNA1	C1855062	Large dysplastic ears	0.2	0	0	HPO
1134	CHRNA1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1134	CHRNA1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1134	CHRNA1	C1860838	Large prominent ears	0.2	0	0	HPO
1134	CHRNA1	C1861403	Variable expressivity	0.2	0	0	HPO
1134	CHRNA1	C1864238	Prolonged miniature endplate currents (MEPC)	0.2	0	0	HPO
1134	CHRNA1	C1864580	Type 2 fiber atrophy	0.2	0	0	HPO
1134	CHRNA1	C1866862	Highly variable severity	0.2	0	0	HPO
1134	CHRNA1	C1867448	Multiple pterygia	0.2	0	0	HPO
1134	CHRNA1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1134	CHRNA1	C2931107	Myasthenic syndrome, congenital, postsynaptic slow-channel	0.2	0	0	CTD_human
1134	CHRNA1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1134	CHRNA1	C3151520	Early severe fetal akinesia sequence	0.2	0	0	HPO
1134	CHRNA1	C3151523	Abnormal cervical curvature	0.2	0	0	HPO
1134	CHRNA1	C3151525	Hypoplastic heart	0.2	0	0	HPO
1134	CHRNA1	C3278509	Spinal fusion	0.2	0	0	HPO
1134	CHRNA1	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1134	CHRNA1	C3807025	Intermittent episodes of respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1134	CHRNA1	C4020874	No development of motor milestones	0.2	0	0	HPO
1134	CHRNA1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1134	CHRNA1	C4025615	Decreased size of nerve terminals	0.2	0	0	HPO
1134	CHRNA1	C4072832	Distortion of face	0.2	0	0	HPO
1134	CHRNA1	C4072833	Funny looking face	0.2	0	0	HPO
1134	CHRNA1	C4082299	Bulbar palsy	0.2	0	0	HPO
1134	CHRNA1	C4084823	MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	0.2	5	7	UNIPROT
1134	CHRNA1	C4225405	MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	0.2	3	4	UNIPROT
11340	EXOSC8	C0011053	Deafness	0.2	0	0	HPO
11340	EXOSC8	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
11340	EXOSC8	C0026847	Spinal Muscular Atrophy	0.2	0	0	HPO
11340	EXOSC8	C0042798	Low Vision	0.2	0	0	HPO
11340	EXOSC8	C0151786	Muscle Weakness	0.2	0	0	HPO
11340	EXOSC8	C0231246	Failure to gain weight	0.2	0	0	HPO
11340	EXOSC8	C0232466	Feeding difficulties	0.2	0	0	HPO
11340	EXOSC8	C0235946	Cerebral atrophy	0.2	0	0	HPO
11340	EXOSC8	C0339789	Congenital deafness	0.2	0	0	HPO
11340	EXOSC8	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
11340	EXOSC8	C0557874	Global developmental delay	0.2	0	0	HPO
11340	EXOSC8	C0575059	Spastic tetraparesis	0.2	0	0	HPO
11340	EXOSC8	C1145670	Respiratory Failure	0.2	0	0	HPO
11340	EXOSC8	C1384666	hearing impairment	0.2	0	0	HPO
11340	EXOSC8	C1840379	Cerebellar vermis hypoplasia	0.2	0	0	HPO
11340	EXOSC8	C1843504	Pontocerebellar Hypoplasia Type 1	0.2	0	0	ORPHANET
11340	EXOSC8	C1864897	Cognitive delay	0.2	0	0	HPO
11340	EXOSC8	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
11340	EXOSC8	C3665347	Visual Impairment	0.2	0	0	HPO
11340	EXOSC8	C4015160	PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	0.200274726784213	1	2	UNIPROT
11340	EXOSC8	C4020875	Mental and motor retardation	0.2	0	0	HPO
11340	EXOSC8	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
11343	MGLL	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
11343	MGLL	C0029456	Osteoporosis	0.2	1	0	CTD_human
11343	MGLL	C0740858	Substance abuse problem	0.2	1	0	PSYGENET
1135	CHRNA2	C0005586	Bipolar Disorder	0.200274726784213	2	0	PSYGENET
1135	CHRNA2	C0011570	Mental Depression	0.2	1	0	PSYGENET
1135	CHRNA2	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1135	CHRNA2	C0014544	Epilepsy	0.203231208875927	0	0	HPO
1135	CHRNA2	C0036572	Seizures	0.200274726784213	0	0	HPO
1135	CHRNA2	C0233514	Abnormal behavior	0.2	0	0	HPO
1135	CHRNA2	C1835905	Epilepsy, Nocturnal Frontal Lobe, Type 4	0.4	1	1	CTD_human;UNIPROT
1136	CHRNA3	C0001973	Alcoholic Intoxication, Chronic	0.410452294445791	4	0	CTD_human;PSYGENET
1136	CHRNA3	C0024121	Lung Neoplasms	0.207872853452916	1	0	CTD_human
1136	CHRNA3	C0036341	Schizophrenia	0.202681755307501	1	1	PSYGENET
1136	CHRNA3	C0036572	Seizures	0.2	1	0	CTD_human
1136	CHRNA3	C0040336	Tobacco Use Disorder	0.238512456372608	1	0	CTD_human
1136	CHRNA3	C0600427	Cocaine Dependence	0.200274726784213	2	0	PSYGENET
1136	CHRNA3	C1861063	TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)	0.2	2	0	CTD_human
113612	CYP2U1	C3539507	SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	0.4	1	5	ORPHANET;UNIPROT
1137	CHRNA4	C0001973	Alcoholic Intoxication, Chronic	0.205638237399215	4	0	PSYGENET
1137	CHRNA4	C0004352	Autistic Disorder	0.202732912464814	1	0	CTD_human
1137	CHRNA4	C0008073	Developmental Disabilities	0.2	1	0	CTD_human
1137	CHRNA4	C0009171	Cocaine Abuse	0.2	1	0	PSYGENET
1137	CHRNA4	C0011570	Mental Depression	0.200824180352639	3	0	PSYGENET
1137	CHRNA4	C0011581	Depressive disorder	0.200824180352639	3	0	PSYGENET
1137	CHRNA4	C0013421	Dystonia	0.2	1	0	CTD_human
1137	CHRNA4	C0014544	Epilepsy	0.208385505241346	0	0	HPO
1137	CHRNA4	C0021368	Inflammation	0.2	1	0	CTD_human
1137	CHRNA4	C0027765	nervous system disorder	0.200274726784213	1	0	CTD_human
1137	CHRNA4	C0036341	Schizophrenia	0.212151812308383	4	0	PSYGENET
1137	CHRNA4	C0036572	Seizures	0.401373633921066	2	0	CTD_human;HPO
1137	CHRNA4	C0085541	Epilepsy, Frontal Lobe	0.215760062283148	3	0	CTD_human
1137	CHRNA4	C0233514	Abnormal behavior	0.201098907136852	0	0	HPO
1137	CHRNA4	C0344315	Depressed mood	0.2	3	0	PSYGENET
1137	CHRNA4	C0751495	Seizures, Focal	0.2	0	0	HPO
1137	CHRNA4	C1263846	Attention deficit hyperactivity disorder	0.211551201582644	1	0	CTD_human
1137	CHRNA4	C1838049	Epilepsy, Nocturnal Frontal Lobe, Type 1	0.4	2	5	CTD_human;UNIPROT
1137	CHRNA4	C1861063	TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)	0.2	0	0	CTD_human
1137	CHRNA4	C4042891	Sleep Wake Disorders	0.2	1	0	CTD_human
113878	DTX2	C0006118	Brain Neoplasms	0.2	1	0	CTD_human
1139	CHRNA7	C0002395	Alzheimer's Disease	0.227348065645787	1	0	CTD_human
1139	CHRNA7	C0004310	Auditory Perceptual Disorders	0.2	1	0	CTD_human
1139	CHRNA7	C0004352	Autistic Disorder	0.205689394556528	1	0	CTD_human
1139	CHRNA7	C0005586	Bipolar Disorder	0.207337755261807	5	0	PSYGENET
1139	CHRNA7	C0014548	Epilepsy, Generalized	0.202956482091714	1	0	CTD_human
1139	CHRNA7	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
1139	CHRNA7	C0025261	Memory Disorders	0.2	1	0	CTD_human
1139	CHRNA7	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1139	CHRNA7	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1139	CHRNA7	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1139	CHRNA7	C0036341	Schizophrenia	0.255721434868436	4	0	PSYGENET
1139	CHRNA7	C0036572	Seizures	0.201098907136852	5	0	CTD_human
1139	CHRNA7	C0037917	Spina Bifida Cystica	0.2	1	0	CTD_human
1139	CHRNA7	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
1139	CHRNA7	C0038644	Sudden infant death syndrome	0.2	1	0	CTD_human
1139	CHRNA7	C0040336	Tobacco Use Disorder	0.209628114093152	1	0	CTD_human
1139	CHRNA7	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1139	CHRNA7	C0423903	Low intelligence	0.2	0	0	HPO
1139	CHRNA7	C0424503	Dysmorphic facies	0.2	0	0	HPO
1139	CHRNA7	C0525041	Neurobehavioral Manifestations	0.2	1	0	CTD_human
1139	CHRNA7	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1139	CHRNA7	C0917816	Mental deficiency	0.2	0	0	HPO
1139	CHRNA7	C1306503	Congenital exomphalos	0.2	1	0	CTD_human
1139	CHRNA7	C1385263	facial deformity	0.2	0	0	HPO
1139	CHRNA7	C1837514	Phenotypic variability	0.2	0	0	HPO
1139	CHRNA7	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1139	CHRNA7	C1843367	Poor school performance	0.2	0	0	HPO
1139	CHRNA7	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1139	CHRNA7	C1864897	Cognitive delay	0.2	0	0	HPO
1139	CHRNA7	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1139	CHRNA7	C2677613	Chromosome 15q13.3 Microdeletion Syndrome	0.2	0	0	ORPHANET
1139	CHRNA7	C3714756	Intellectual Disability	0.200824180352639	0	0	HPO
1139	CHRNA7	C4020875	Mental and motor retardation	0.2	0	0	HPO
1139	CHRNA7	C4020876	Dull intelligence	0.2	0	0	HPO
1139	CHRNA7	C4072832	Distortion of face	0.2	0	0	HPO
1139	CHRNA7	C4072833	Funny looking face	0.2	0	0	HPO
114	ADCY8	C0005586	Bipolar Disorder	0.200549453568426	2	0	PSYGENET
114	ADCY8	C0011570	Mental Depression	0.200274726784213	1	0	PSYGENET
114	ADCY8	C0011581	Depressive disorder	0.200274726784213	1	0	PSYGENET
114	ADCY8	C0011875	Diabetic Angiopathies	0.2	1	0	CTD_human
114	ADCY8	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
114	ADCY8	C0424295	Hyperactive behavior	0.2	1	0	CTD_human
114	ADCY8	C0525045	Mood Disorders	0.400274726784213	4	0	CTD_human;PSYGENET
1140	CHRNB1	C0005745	Blepharoptosis	0.2	0	0	HPO
1140	CHRNB1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1140	CHRNB1	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1140	CHRNB1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1140	CHRNB1	C0151786	Muscle Weakness	0.2	0	0	HPO
1140	CHRNB1	C0232466	Feeding difficulties	0.2	0	0	HPO
1140	CHRNB1	C0234958	muscle degeneration	0.2	0	0	HPO
1140	CHRNB1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1140	CHRNB1	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1140	CHRNB1	C0376175	Bell Palsy	0.2	0	0	HPO
1140	CHRNB1	C0424585	Tires quickly	0.2	0	0	HPO
1140	CHRNB1	C0427055	Facial Paresis	0.2	0	0	HPO
1140	CHRNB1	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1140	CHRNB1	C0751883	Congenital Myasthenic Syndromes, Postsynaptic	0.2	0	0	ORPHANET
1140	CHRNB1	C1836047	Long face	0.2	0	0	HPO
1140	CHRNB1	C1837091	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	0.2	0	0	CTD_human
1140	CHRNB1	C1837098	Easy fatigability	0.2	0	0	HPO
1140	CHRNB1	C1837463	Narrow face	0.2	0	0	HPO
1140	CHRNB1	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1140	CHRNB1	C1849121	Thin face	0.2	0	0	HPO
1140	CHRNB1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1140	CHRNB1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1140	CHRNB1	C2752013	Prenatal onset	0.2	0	0	HPO
1140	CHRNB1	C2931107	Myasthenic syndrome, congenital, postsynaptic slow-channel	0.2	0	0	CTD_human
1140	CHRNB1	C4020855	Respiratory function loss	0.2	0	0	HPO
1140	CHRNB1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1140	CHRNB1	C4225374	MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	0.2	3	2	UNIPROT
1141	CHRNB2	C0002395	Alzheimer's Disease	0.220732176421995	1	0	CTD_human
1141	CHRNB2	C0003469	Anxiety Disorders	0.2	1	0	CTD_human
1141	CHRNB2	C0004352	Autistic Disorder	0.282732912464814	1	0	CTD_human
1141	CHRNB2	C0014544	Epilepsy	0.200824180352639	0	0	HPO
1141	CHRNB2	C0020672	Hypothermia, natural	0.2	1	0	CTD_human
1141	CHRNB2	C0021368	Inflammation	0.2	1	0	CTD_human
1141	CHRNB2	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1141	CHRNB2	C0034933	Reflex, Abnormal	0.2	1	0	CTD_human
1141	CHRNB2	C0036341	Schizophrenia	0.210503451603104	2	0	PSYGENET
1141	CHRNB2	C0036572	Seizures	0.2	0	0	HPO
1141	CHRNB2	C0038587	Substance Withdrawal Syndrome	0.202407028523288	1	0	CTD_human
1141	CHRNB2	C0038644	Sudden infant death syndrome	0.2	1	0	CTD_human
1141	CHRNB2	C0085541	Epilepsy, Frontal Lobe	0.21739406761111	1	0	CTD_human
1141	CHRNB2	C1263846	Attention deficit hyperactivity disorder	0.28	1	0	CTD_human
1141	CHRNB2	C1854335	Epilepsy, Nocturnal Frontal Lobe, Type 3	0.48	2	5	CTD_human;UNIPROT
1141	CHRNB2	C4042891	Sleep Wake Disorders	0.2	1	0	CTD_human
114134	SLC2A13	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1142	CHRNB3	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
1142	CHRNB3	C0005586	Bipolar Disorder	0.200549453568426	3	0	PSYGENET
1142	CHRNB3	C0011570	Mental Depression	0.2	1	0	PSYGENET
1142	CHRNB3	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1142	CHRNB3	C0600427	Cocaine Dependence	0.200549453568426	1	0	PSYGENET
1142	CHRNB3	C1861063	TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)	0.2	1	0	CTD_human
1142	CHRNB3	C3496069	cocaine use	0.200274726784213	1	0	PSYGENET
114294	LACTB	C0028754	Obesity	0.2	1	0	CTD_human
1143	CHRNB4	C0001973	Alcoholic Intoxication, Chronic	0.208045265922503	3	0	PSYGENET
1143	CHRNB4	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1143	CHRNB4	C0036572	Seizures	0.2	2	0	CTD_human
1143	CHRNB4	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
1143	CHRNB4	C0600427	Cocaine Dependence	0.2	2	0	PSYGENET
114327	EFHC1	C0014553	Absence Epilepsy	0.200824180352639	0	0	CTD_human
114327	EFHC1	C0270853	Myoclonic Epilepsy, Juvenile	0.704001865809541	4	6	CTD_human;ORPHANET;UNIPROT
114327	EFHC1	C2750892	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	0.2	0	0	ORPHANET
1144	CHRND	C0005745	Blepharoptosis	0.2	0	0	HPO
1144	CHRND	C0008925	Cleft Palate	0.2	0	0	HPO
1144	CHRND	C0009917	Contracture	0.2	0	0	HPO
1144	CHRND	C0009918	Contracture of joint	0.2	0	0	HPO
1144	CHRND	C0011168	Deglutition Disorders	0.2	0	0	HPO
1144	CHRND	C0013604	Edema	0.2	0	0	HPO
1144	CHRND	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1144	CHRND	C0020224	Polyhydramnios	0.2	0	0	HPO
1144	CHRND	C0020534	Orbital separation excessive	0.2	0	0	HPO
1144	CHRND	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1144	CHRND	C0024591	Malignant hyperpyrexia due to anesthesia	0.2	0	0	HPO
1144	CHRND	C0025990	Micrognathism	0.2	0	0	HPO
1144	CHRND	C0026827	Muscle hypotonia	0.2	0	0	HPO
1144	CHRND	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1144	CHRND	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1144	CHRND	C0085623	Akinesia	0.2	0	0	HPO
1144	CHRND	C0206620	Lymphangioma, Cystic	0.2	0	0	HPO
1144	CHRND	C0232466	Feeding difficulties	0.2	0	0	HPO
1144	CHRND	C0239234	Low set ears	0.2	0	0	HPO
1144	CHRND	C0239594	Short finger	0.2	0	0	HPO
1144	CHRND	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1144	CHRND	C0240479	Neck muscle weakness	0.2	0	0	HPO
1144	CHRND	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1144	CHRND	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1144	CHRND	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1144	CHRND	C0333068	Flexion contracture	0.2	0	0	HPO
1144	CHRND	C0376175	Bell Palsy	0.2	0	0	HPO
1144	CHRND	C0424503	Dysmorphic facies	0.2	0	0	HPO
1144	CHRND	C0424585	Tires quickly	0.2	0	0	HPO
1144	CHRND	C0426818	Thin rib	0.2	0	0	HPO
1144	CHRND	C0427055	Facial Paresis	0.2	0	0	HPO
1144	CHRND	C0432185	Aplasia of muscle	0.2	0	0	HPO
1144	CHRND	C0522224	Paralysed	0.2	1	0	CTD_human
1144	CHRND	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1144	CHRND	C0746674	Generalized muscle weakness	0.2	0	0	HPO
1144	CHRND	C0751883	Congenital Myasthenic Syndromes, Postsynaptic	0.2	0	0	ORPHANET
1144	CHRND	C1276035	Pena-Shokeir syndrome type I	0.200274726784213	0	0	HPO
1144	CHRND	C1385263	facial deformity	0.2	0	0	HPO
1144	CHRND	C1386048	Intrauterine retardation	0.2	0	0	HPO
1144	CHRND	C1390474	Increased susceptibility to fractures	0.2	0	0	HPO
1144	CHRND	C1835763	Vertebral body fusion	0.2	0	0	HPO
1144	CHRND	C1837098	Easy fatigability	0.2	0	0	HPO
1144	CHRND	C1837122	Myasthenic Syndrome, Congenital, Fast-Channel	0.2	0	0	CTD_human
1144	CHRND	C1842876	Depressed nasal ridge	0.2	0	0	HPO
1144	CHRND	C1844548	Hypoplastic finger	0.2	0	0	HPO
1144	CHRND	C1848924	Infantile onset	0.2	0	0	HPO
1144	CHRND	C1849073	Fused vertebrae	0.2	0	0	HPO
1144	CHRND	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1144	CHRND	C1854678	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	0.6	1	3	CTD_human;ORPHANET;UNIPROT
1144	CHRND	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1144	CHRND	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1144	CHRND	C1864985	Progressive disorder	0.2	0	0	HPO
1144	CHRND	C1867448	Multiple pterygia	0.2	0	0	HPO
1144	CHRND	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1144	CHRND	C2752013	Prenatal onset	0.2	0	0	HPO
1144	CHRND	C2931107	Myasthenic syndrome, congenital, postsynaptic slow-channel	0.2	0	0	CTD_human
1144	CHRND	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1144	CHRND	C3151520	Early severe fetal akinesia sequence	0.2	0	0	HPO
1144	CHRND	C3151523	Abnormal cervical curvature	0.2	0	0	HPO
1144	CHRND	C3151525	Hypoplastic heart	0.2	0	0	HPO
1144	CHRND	C3278509	Spinal fusion	0.2	0	0	HPO
1144	CHRND	C4020855	Respiratory function loss	0.2	0	0	HPO
1144	CHRND	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1144	CHRND	C4072832	Distortion of face	0.2	0	0	HPO
1144	CHRND	C4072833	Funny looking face	0.2	0	0	HPO
1144	CHRND	C4225370	MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	0.2	1	1	UNIPROT
1144	CHRND	C4225371	MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL	0.2	3	5	UNIPROT
1144	CHRND	C4225372	MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL	0.28	2	2	UNIPROT
1145	CHRNE	C0003886	Arthrogryposis	0.2	0	0	HPO
1145	CHRNE	C0005745	Blepharoptosis	0.2	0	0	HPO
1145	CHRNE	C0011168	Deglutition Disorders	0.2	0	0	HPO
1145	CHRNE	C0013362	Dysarthria	0.2	0	0	HPO
1145	CHRNE	C0024636	Malocclusion	0.2	0	0	HPO
1145	CHRNE	C0026821	Muscle Cramp	0.2	0	0	HPO
1145	CHRNE	C0026827	Muscle hypotonia	0.2	0	0	HPO
1145	CHRNE	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1145	CHRNE	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1145	CHRNE	C0038379	Strabismus	0.2	0	0	HPO
1145	CHRNE	C0232466	Feeding difficulties	0.2	0	0	HPO
1145	CHRNE	C0234182	Gowers sign	0.2	0	0	HPO
1145	CHRNE	C0234860	Weak cry	0.2	0	0	HPO
1145	CHRNE	C0234958	muscle degeneration	0.2	0	0	HPO
1145	CHRNE	C0235659	Reduced fetal movement	0.2	0	0	HPO
1145	CHRNE	C0240479	Neck muscle weakness	0.2	0	0	HPO
1145	CHRNE	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1145	CHRNE	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1145	CHRNE	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
1145	CHRNE	C0376175	Bell Palsy	0.2	0	0	HPO
1145	CHRNE	C0399526	Class III malocclusion	0.2	0	0	HPO
1145	CHRNE	C0424585	Tires quickly	0.2	0	0	HPO
1145	CHRNE	C0427055	Facial Paresis	0.2	0	0	HPO
1145	CHRNE	C0476273	Respiratory distress	0.2	0	0	HPO
1145	CHRNE	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1145	CHRNE	C0575071	Gowers sign present	0.2	0	0	HPO
1145	CHRNE	C0587246	Muscle weakness of limb	0.2	0	0	HPO
1145	CHRNE	C0751401	Ophthalmoparesis	0.200274726784213	0	0	HPO
1145	CHRNE	C0751883	Congenital Myasthenic Syndromes, Postsynaptic	0.2	0	0	ORPHANET
1145	CHRNE	C0947912	Myasthenias	0.200274726784213	0	0	HPO
1145	CHRNE	C1301959	Bulbar weakness	0.2	0	0	HPO
1145	CHRNE	C1836047	Long face	0.2	0	0	HPO
1145	CHRNE	C1837091	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	0.48	1	15	CTD_human;UNIPROT
1145	CHRNE	C1837098	Easy fatigability	0.2	0	0	HPO
1145	CHRNE	C1837108	Decreased muscle mass	0.2	0	0	HPO
1145	CHRNE	C1837122	Myasthenic Syndrome, Congenital, Fast-Channel	0.2	0	0	CTD_human
1145	CHRNE	C1837142	Poor suck	0.2	0	0	HPO
1145	CHRNE	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1145	CHRNE	C1848924	Infantile onset	0.2	0	0	HPO
1145	CHRNE	C1853950	Generalized hypotonia due to defect at the neuromuscular junction	0.2	0	0	HPO
1145	CHRNE	C1853952	Decreased miniature endplate potentials (MEPP)	0.2	0	0	HPO
1145	CHRNE	C1854301	Motor delay	0.2	0	0	HPO
1145	CHRNE	C1858120	Generalized hypotonia	0.2	0	0	HPO
1145	CHRNE	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1145	CHRNE	C1861403	Variable expressivity	0.2	0	0	HPO
1145	CHRNE	C1864580	Type 2 fiber atrophy	0.2	0	0	HPO
1145	CHRNE	C1866862	Highly variable severity	0.2	0	0	HPO
1145	CHRNE	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
1145	CHRNE	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1145	CHRNE	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1145	CHRNE	C2752013	Prenatal onset	0.2	0	0	HPO
1145	CHRNE	C2931107	Myasthenic syndrome, congenital, postsynaptic slow-channel	0.2	0	0	CTD_human
1145	CHRNE	C3806462	Apneic episodes precipitated by illness, fatigue, stress	0.2	0	0	HPO
1145	CHRNE	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1145	CHRNE	C3839460	Nonprogressive	0.2	0	0	HPO
1145	CHRNE	C4020841	EMG: decrement at repetitive stimulation	0.2	0	0	HPO
1145	CHRNE	C4020855	Respiratory function loss	0.2	0	0	HPO
1145	CHRNE	C4020874	No development of motor milestones	0.2	0	0	HPO
1145	CHRNE	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1145	CHRNE	C4021728	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0.2	0	0	HPO
1145	CHRNE	C4021753	Abnormality of the immune system	0.2	0	0	HPO
1145	CHRNE	C4025615	Decreased size of nerve terminals	0.2	0	0	HPO
1145	CHRNE	C4025671	Sudden episodic apnea	0.2	0	0	HPO
1145	CHRNE	C4082299	Bulbar palsy	0.2	0	0	HPO
1145	CHRNE	C4225369	MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	0.2	3	5	UNIPROT
1145	CHRNE	C4225413	MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	0.28	5	4	UNIPROT
1145	CHRNE	C4280613	Angle class 3 malocclusion	0.2	0	0	HPO
1145	CHRNE	C4280614	Angle class 2 malocclusion	0.2	0	0	HPO
1145	CHRNE	C4280644	Increased size of mandible	0.2	0	0	HPO
1145	CHRNE	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
114548	NLRP3	C0002792	anaphylaxis	0.202407028523288	1	0	CTD_human
114548	NLRP3	C0010346	Crohn Disease	0.218940114001763	1	0	CTD_human
114548	NLRP3	C0013182	Drug Allergy	0.202407028523288	1	0	CTD_human
114548	NLRP3	C0016470	Food Allergy	0.202407028523288	1	0	CTD_human
114548	NLRP3	C0021368	Inflammation	0.202732912464814	2	0	CTD_human
114548	NLRP3	C0028797	Occupational Diseases	0.2	1	0	CTD_human
114548	NLRP3	C0034069	Pulmonary Fibrosis	0.200274726784213	1	0	CTD_human
114548	NLRP3	C0268390	Muckle-Wells Syndrome	0.690164891015885	5	8	CTD_human;ORPHANET;UNIPROT
114548	NLRP3	C0343068	Familial cold urticaria	0.688516530310606	7	17	CTD_human;ORPHANET;UNIPROT
114548	NLRP3	C0409818	Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	0.49236270528959	8	18	ORPHANET;UNIPROT
114548	NLRP3	C2316212	Cryopyrin-Associated Periodic Syndromes	0.208241803526393	3	0	CTD_human
114609	TIRAP	C0004610	Bacteremia	0.2	1	0	CTD_human
114609	TIRAP	C0024530	Malaria	0.200274726784213	1	0	CTD_human
114609	TIRAP	C0032269	Pneumococcal Infections	0.2	1	0	CTD_human
114609	TIRAP	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
114609	TIRAP	C0041296	Tuberculosis	0.216467572943845	1	0	CTD_human
114609	TIRAP	C1834752	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)	0.2	0	0	CTD_human
114609	TIRAP	C1835828	Invasive Pneumococcal Disease, Recurrent Isolated, 1	0.2	0	0	CTD_human
1147	CHUK	C0005941	Bone Diseases, Developmental	0.2	1	0	CTD_human
1147	CHUK	C0008925	Cleft Palate	0.2	1	0	CTD_human
1147	CHUK	C0015929	Fetal Diseases	0.2	4	0	CTD_human
1147	CHUK	C0037268	Skin Abnormalities	0.2	3	0	CTD_human
1147	CHUK	C0206762	Limb Deformities, Congenital	0.2	4	0	CTD_human
1147	CHUK	C0241442	Protrusion of tongue	0.2	0	0	HPO
1147	CHUK	C0345371	Hypoplasia of lower limb	0.2	0	0	HPO
1147	CHUK	C0423757	Thin skin	0.2	0	0	HPO
1147	CHUK	C0424688	Small head	0.2	0	0	HPO
1147	CHUK	C0685775	Congenital absence of jaw	0.2	0	0	HPO
1147	CHUK	C0685776	Congenital absence of mandible	0.2	0	0	HPO
1147	CHUK	C0702139	Congenital absence of external ear	0.2	0	0	HPO
1147	CHUK	C0795690	Congenital omphalocele	0.2	0	0	HPO
1147	CHUK	C1408788	Absent ear	0.2	0	0	HPO
1147	CHUK	C1837406	Hypoplasia involving bones of the upper limbs	0.2	0	0	HPO
1147	CHUK	C1848869	Absent external genitalia	0.2	0	0	HPO
1147	CHUK	C2677485	Lack of sweat glands	0.2	0	0	HPO
1147	CHUK	C3150891	COCOON SYNDROME	0.480549453568426	0	0	CTD_human;ORPHANET
1147	CHUK	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1147	CHUK	C4021371	Absent mandible	0.2	0	0	HPO
114757	CYGB	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
114757	CYGB	C0751870	Heredodegenerative Disorders, Nervous System	0.2	1	0	CTD_human
114781	BTBD9	C0035258	Restless Legs Syndrome	0.2146243533663	1	3	CTD_human
114781	BTBD9	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
114784	CSMD2	C0011570	Mental Depression	0.2	1	0	PSYGENET
114784	CSMD2	C0011581	Depressive disorder	0.2	1	0	PSYGENET
114784	CSMD2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
114786	XKR4	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
114788	CSMD3	C0004352	Autistic Disorder	0.200274726784213	1	0	CTD_human
114788	CSMD3	C0007134	Renal Cell Carcinoma	0.2	2	0	CTD_human
114788	CSMD3	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
114795	TMEM132B	C0025202	melanoma	0.2	1	0	CTD_human
114826	SMYD4	C0025149	Medulloblastoma	0.2	1	0	CTD_human
114879	OSBPL5	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
114882	OSBPL8	C0043094	Weight Gain	0.2	1	0	CTD_human
114899	C1QTNF3	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1149	CIDEA	C0018801	Heart failure	0.2	1	0	CTD_human
1149	CIDEA	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1149	CIDEA	C0023903	Liver neoplasms	0.2	1	0	CTD_human
1149	CIDEA	C0028754	Obesity	0.204879569581206	1	0	CTD_human
114904	C1QTNF6	C0011854	Diabetes Mellitus, Insulin-Dependent	0.202956482091714	1	1	CTD_human
114907	FBXO32	C0026846	Muscular Atrophy	0.210931649859255	1	0	CTD_human
114990	VASN	C2239176	Liver carcinoma	0.200274726784213	1	0	CTD_human
115019	SLC26A9	C0021843	Intestinal Obstruction	0.2	1	0	CTD_human
115019	SLC26A9	C1859047	CYSTIC FIBROSIS MODIFIER 1	0.2	1	0	CTD_human
115111	SLC26A7	C0036341	Schizophrenia	0.2	1	0	CTD_human
1152	CKB	C0001418	Adenocarcinoma	0.200274726784213	1	0	CTD_human
1152	CKB	C0027051	Myocardial Infarction	0.2	1	0	CTD_human
1152	CKB	C0036341	Schizophrenia	0.203007639249027	1	0	PSYGENET
1152	CKB	C0038356	Stomach Neoplasms	0.200274726784213	1	0	CTD_human
1152	CKB	C0149721	Left Ventricular Hypertrophy	0.2	1	0	CTD_human
1152	CKB	C0149925	Small cell carcinoma of lung	0.200274726784213	1	0	CTD_human
1152	CKB	C0857501	acute schizophrenia	0.2	1	0	PSYGENET
1152	CKB	C0948089	Acute Coronary Syndrome	0.2	1	0	CTD_human
115207	KCTD12	C0005586	Bipolar Disorder	0.2	1	0	PSYGENET
115207	KCTD12	C0036341	Schizophrenia	0.2	1	0	PSYGENET
115207	KCTD12	C0525045	Mood Disorders	0.2	1	0	PSYGENET
115265	DDIT4L	C0025202	melanoma	0.2	1	0	CTD_human
115286	SLC25A26	C4225206	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28	0.4	1	4	ORPHANET;UNIPROT
1153	CIRBP	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1153	CIRBP	C0600467	Neurogenic Inflammation	0.2	1	0	CTD_human
1153	CIRBP	C0751865	Alcohol-Induced Disorders, Nervous System	0.2	1	0	CTD_human
1153	CIRBP	C1510586	Autism Spectrum Disorders	0.2	1	0	CTD_human
115361	GBP4	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1154	CISH	C0024530	Malaria	0.2	0	0	CTD_human
1154	CISH	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
1154	CISH	C1834752	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)	0.2	0	0	CTD_human
1155	TBCB	C0027627	Neoplasm Metastasis	0.2	1	0	CTD_human
115650	TNFRSF13C	C0009447	Common Variable Immunodeficiency	0.407887208830233	0	0	CTD_human;ORPHANET
115761	ARL11	C0023434	Chronic Lymphocytic Leukemia	0.40328236603324	0	0	CTD_human;ORPHANET
115761	ARL11	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
115761	ARL11	C0919267	ovarian neoplasm	0.2	1	0	CTD_human
1158	CKM	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1158	CKM	C0022116	Ischemia	0.2	1	0	CTD_human
1158	CKM	C0027051	Myocardial Infarction	0.2	2	0	CTD_human
1158	CKM	C0149721	Left Ventricular Hypertrophy	0.2	1	0	CTD_human
1158	CKM	C0948089	Acute Coronary Syndrome	0.2	1	0	CTD_human
115948	CCDC151	C0008780	Ciliary Motility Disorders	0.200549453568426	0	0	ORPHANET
115948	CCDC151	C0022521	Kartagener Syndrome	0.200549453568426	0	0	ORPHANET
116039	OSR2	C0014175	Endometriosis	0.2	1	0	CTD_human
116071	BATF2	C0025202	melanoma	0.200274726784213	1	0	CTD_human
1161	ERCC8	C0003028	Anhidrosis	0.2	0	0	HPO
1161	ERCC8	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1161	ERCC8	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1161	ERCC8	C0009207	Cockayne Syndrome	0.220979871183197	2	0	CTD_human
1161	ERCC8	C0010417	Cryptorchidism	0.2	0	0	HPO
1161	ERCC8	C0011334	Dental caries	0.2	0	0	HPO
1161	ERCC8	C0013362	Dysarthria	0.2	0	0	HPO
1161	ERCC8	C0014544	Epilepsy	0.2	0	0	HPO
1161	ERCC8	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1161	ERCC8	C0016689	Freckles	0.2	0	0	HPO
1161	ERCC8	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1161	ERCC8	C0019209	Hepatomegaly	0.2	0	0	HPO
1161	ERCC8	C0020258	Hydrocephalus, Normal Pressure	0.2	0	0	HPO
1161	ERCC8	C0020490	Hyperopia	0.2	0	0	HPO
1161	ERCC8	C0020538	Hypertensive disease	0.2	0	0	HPO
1161	ERCC8	C0020619	Hypogonadism	0.2	0	0	HPO
1161	ERCC8	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1161	ERCC8	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1161	ERCC8	C0024636	Malocclusion	0.2	0	0	HPO
1161	ERCC8	C0025362	Mental Retardation	0.2	0	0	HPO
1161	ERCC8	C0028738	Nystagmus	0.2	0	0	HPO
1161	ERCC8	C0029124	Optic Atrophy	0.2	0	0	HPO
1161	ERCC8	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1161	ERCC8	C0033687	Proteinuria	0.2	0	0	HPO
1161	ERCC8	C0035078	Kidney Failure	0.200274726784213	0	0	HPO
1161	ERCC8	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1161	ERCC8	C0036572	Seizures	0.2	0	0	HPO
1161	ERCC8	C0038002	Splenomegaly	0.2	0	0	HPO
1161	ERCC8	C0038379	Strabismus	0.2	0	0	HPO
1161	ERCC8	C0040822	Tremor	0.2	0	0	HPO
1161	ERCC8	C0086543	Cataract	0.2	0	0	HPO
1161	ERCC8	C0151786	Muscle Weakness	0.2	0	0	HPO
1161	ERCC8	C0151908	Dry skin	0.2	0	0	HPO
1161	ERCC8	C0152025	Polyneuropathy	0.2	0	0	HPO
1161	ERCC8	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1161	ERCC8	C0156404	Irregular periods	0.2	0	0	HPO
1161	ERCC8	C0235357	Tooth hypoplasia	0.2	0	0	HPO
1161	ERCC8	C0235857	Lacrimation decreased	0.2	0	0	HPO
1161	ERCC8	C0235946	Cerebral atrophy	0.2	0	0	HPO
1161	ERCC8	C0259817	Xerosis	0.2	0	0	HPO
1161	ERCC8	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1161	ERCC8	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1161	ERCC8	C0277960	Dry hair	0.2	0	0	HPO
1161	ERCC8	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
1161	ERCC8	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1161	ERCC8	C0399526	Class III malocclusion	0.2	0	0	HPO
1161	ERCC8	C0423250	Corneal stromal opacities	0.2	0	0	HPO
1161	ERCC8	C0423903	Low intelligence	0.2	0	0	HPO
1161	ERCC8	C0424688	Small head	0.2	0	0	HPO
1161	ERCC8	C0431483	Simple ear	0.2	0	0	HPO
1161	ERCC8	C0497247	Increase in blood pressure	0.2	0	0	HPO
1161	ERCC8	C0497327	Dementia	0.2	0	0	HPO
1161	ERCC8	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1161	ERCC8	C0522214	Abnormal visual evoked potential	0.2	0	0	HPO
1161	ERCC8	C0522216	Abnormal auditory evoked potential	0.2	0	0	HPO
1161	ERCC8	C0575081	Gait abnormality	0.2	0	0	HPO
1161	ERCC8	C0751037	Cockayne Syndrome, Type III	0.2	0	0	ORPHANET
1161	ERCC8	C0751038	Cockayne Syndrome, Type II	0.200824180352639	0	0	ORPHANET
1161	ERCC8	C0751039	Cockayne Syndrome, Type I	0.482197814273705	3	10	ORPHANET;UNIPROT
1161	ERCC8	C0855329	Electrocardiogram change	0.2	0	0	HPO
1161	ERCC8	C0857379	Auricular malformation	0.2	0	0	HPO
1161	ERCC8	C0917816	Mental deficiency	0.2	0	0	HPO
1161	ERCC8	C1260926	Abnormal pigmentation	0.2	0	0	HPO
1161	ERCC8	C1386048	Intrauterine retardation	0.2	0	0	HPO
1161	ERCC8	C1389280	Basal ganglia calcification	0.2	0	0	HPO
1161	ERCC8	C1510497	Lens Opacities	0.2	0	0	HPO
1161	ERCC8	C1565489	Renal Insufficiency	0.2	0	0	HPO
1161	ERCC8	C1832603	EKG abnormalities	0.2	0	0	HPO
1161	ERCC8	C1837767	Loss of facial adipose tissue	0.2	0	0	HPO
1161	ERCC8	C1837770	Sparse hair	0.2	0	0	HPO
1161	ERCC8	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1161	ERCC8	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1161	ERCC8	C1843367	Poor school performance	0.2	0	0	HPO
1161	ERCC8	C1845112	Hyperkyphosis	0.2	0	0	HPO
1161	ERCC8	C1848924	Infantile onset	0.2	0	0	HPO
1161	ERCC8	C1849538	Delayed eruption of primary teeth	0.2	0	0	HPO
1161	ERCC8	C1849953	Square pelvis	0.2	0	0	HPO
1161	ERCC8	C1856661	Cloudy cornea	0.2	0	0	HPO
1161	ERCC8	C1857108	Decreased joint mobility	0.2	0	0	HPO
1161	ERCC8	C1857638	Patchy demyelination of subcortical white matter	0.2	0	0	HPO
1161	ERCC8	C1857640	Decreased nerve conduction velocity	0.2	0	0	HPO
1161	ERCC8	C1857641	Severe postnatal growth retardation	0.2	0	0	HPO
1161	ERCC8	C1857644	Salt and pepper retinal pigmentation	0.2	0	0	HPO
1161	ERCC8	C1857645	Slender nose	0.2	0	0	HPO
1161	ERCC8	C1857651	Sclerotic ivory phalangeal epiphyses	0.2	0	0	HPO
1161	ERCC8	C1857652	Thymic hormone decreased	0.2	0	0	HPO
1161	ERCC8	C1857657	Decreased subcutaneous adipose tissue	0.2	0	0	HPO
1161	ERCC8	C1857707	Increased cellular sensitivity to UV light	0.2	0	0	HPO
1161	ERCC8	C1857710	Wizened face	0.2	0	0	HPO
1161	ERCC8	C1858452	Thickened calvaria	0.2	0	0	HPO
1161	ERCC8	C1860844	Thin, sparse hair	0.2	0	0	HPO
1161	ERCC8	C1865027	Hypoplastic iliac wing	0.2	0	0	HPO
1161	ERCC8	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
1161	ERCC8	C3536734	Hypoplastic pelvis	0.2	0	0	HPO
1161	ERCC8	C3553298	UV-SENSITIVE SYNDROME 2	0.2	1	1	UNIPROT
1161	ERCC8	C3714756	Intellectual Disability	0.2	0	0	HPO
1161	ERCC8	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1161	ERCC8	C4020876	Dull intelligence	0.2	0	0	HPO
1161	ERCC8	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1161	ERCC8	C4021786	Atypical scarring of skin	0.2	0	0	HPO
1161	ERCC8	C4025610	Peripheral dysmyelination	0.2	0	0	HPO
1161	ERCC8	C4280560	Increased thickness of cranium	0.2	0	0	HPO
1161	ERCC8	C4280611	Decreased size of teeth	0.2	0	0	HPO
1161	ERCC8	C4280613	Angle class 3 malocclusion	0.2	0	0	HPO
1161	ERCC8	C4280614	Angle class 2 malocclusion	0.2	0	0	HPO
1161	ERCC8	C4280623	Rotting teeth	0.2	0	0	HPO
1161	ERCC8	C4280644	Increased size of mandible	0.2	0	0	HPO
1161	ERCC8	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
116113	FOXP4	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
116115	ZNF526	C3714756	Intellectual Disability	0.2	1	1	CTD_human
116150	NUS1	C0025202	melanoma	0.2	1	0	CTD_human
116228	COX20	C0268237	Cytochrome-c Oxidase Deficiency	0.200274726784213	0	0	ORPHANET
116285	ACSM1	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
116285	ACSM1	C0036341	Schizophrenia	0.200549453568426	2	2	PSYGENET
116285	ACSM1	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
116285	ACSM1	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
116369	SLC26A8	C0036341	Schizophrenia	0.2	1	0	CTD_human
116369	SLC26A8	C1847540	Azoospermia, Nonobstructive	0.2	1	3	UNIPROT
1164	CKS2	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
116449	CLNK	C0042900	Vitiligo	0.2	1	1	CTD_human
116461	TSEN15	C2932714	Pontocerebellar Hypoplasia Type 2	0.2	0	0	ORPHANET
116519	APOA5	C0020479	Hyperlipoproteinemia Type III	0.203231208875927	1	0	CTD_human
116519	APOA5	C0020480	Hyperlipoproteinemia Type IV	0.200274726784213	0	0	CTD_human
116519	APOA5	C0020481	Hyperlipoproteinemia Type V	0.400274726784213	0	0	CTD_human;ORPHANET
116519	APOA5	C0020557	Hypertriglyceridemia	0.324716035584786	1	0	CTD_human
116519	APOA5	C1956346	Coronary Artery Disease	0.222577074731163	1	0	CTD_human
116519	APOA5	C2362324	Pediatric Obesity	0.200274726784213	1	0	CTD_human
116840	CNTROB	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
116966	WDR17	C0023903	Liver neoplasms	0.2	1	0	CTD_human
116987	AGAP1	C0004352	Autistic Disorder	0.205414667772315	1	0	CTD_human
117	ADCYAP1R1	C0004096	Asthma	0.200274726784213	1	0	CTD_human
117	ADCYAP1R1	C0011570	Mental Depression	0.200274726784213	1	0	PSYGENET
117	ADCYAP1R1	C0011581	Depressive disorder	0.200274726784213	1	0	PSYGENET
117	ADCYAP1R1	C0036341	Schizophrenia	0.200824180352639	1	0	PSYGENET
117144	CATSPER1	C2751811	Spermatogenic Failure 7	0.2	0	0	CTD_human
117145	THEM4	C2239176	Liver carcinoma	0.200274726784213	1	0	CTD_human
117155	CATSPER2	C1970187	Deafness, Sensorineural, And Male Infertility	0.2	0	0	ORPHANET
117156	SCGB3A2	C0004096	Asthma	0.222981147853012	0	0	CTD_human
117289	TAGAP	C0003873	Rheumatoid Arthritis	0.205912964183428	2	0	CTD_human
117289	TAGAP	C0010346	Crohn Disease	0.200549453568426	1	0	CTD_human
117289	TAGAP	C0033860	Psoriasis	0.2	1	0	CTD_human
117289	TAGAP	C2675865	DIABETES MELLITUS, INSULIN-DEPENDENT, 21 (disorder)	0.2	0	0	CTD_human
1174	AP1S1	C0008370	Cholestasis	0.2	0	0	HPO
1174	AP1S1	C0008372	Intrahepatic Cholestasis	0.4	1	0	CTD_human;HPO
1174	AP1S1	C0011053	Deafness	0.2	0	0	HPO
1174	AP1S1	C0011991	Diarrhea	0.2	0	0	HPO
1174	AP1S1	C0016382	Flushing	0.2	0	0	HPO
1174	AP1S1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1174	AP1S1	C0020757	Ichthyoses	0.200274726784213	0	0	HPO
1174	AP1S1	C0021831	Intestinal Diseases	0.2	0	0	HPO
1174	AP1S1	C0023794	Lipoidosis	0.2	1	0	CTD_human
1174	AP1S1	C0023890	Liver Cirrhosis	0.2	0	0	HPO
1174	AP1S1	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1174	AP1S1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1174	AP1S1	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1174	AP1S1	C0041834	Erythema	0.2	0	0	HPO
1174	AP1S1	C0151686	Growth retardation	0.2	0	0	HPO
1174	AP1S1	C0239676	High forehead	0.2	0	0	HPO
1174	AP1S1	C0239946	Fibrosis, Liver	0.2	0	0	HPO
1174	AP1S1	C0240997	Decreased serum ceruloplasmin	0.2	0	0	HPO
1174	AP1S1	C0268070	Hypocupremia	0.200274726784213	0	0	HPO
1174	AP1S1	C0339789	Congenital deafness	0.2	0	0	HPO
1174	AP1S1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
1174	AP1S1	C0423903	Low intelligence	0.2	0	0	HPO
1174	AP1S1	C0442874	Neuropathy	0.2	0	0	HPO
1174	AP1S1	C0456070	Growth delay	0.2	0	0	HPO
1174	AP1S1	C0557874	Global developmental delay	0.2	0	0	HPO
1174	AP1S1	C0870082	Hyperkeratosis	0.2	0	0	HPO
1174	AP1S1	C0878787	Growth failure	0.2	0	0	HPO
1174	AP1S1	C0917816	Mental deficiency	0.2	0	0	HPO
1174	AP1S1	C1384666	hearing impairment	0.2	0	0	HPO
1174	AP1S1	C1836330	ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	0.400549453568426	1	0	CTD_human;ORPHANET
1174	AP1S1	C1837385	Poor growth	0.2	0	0	HPO
1174	AP1S1	C1843367	Poor school performance	0.2	0	0	HPO
1174	AP1S1	C1864897	Cognitive delay	0.2	0	0	HPO
1174	AP1S1	C2677762	Tall forehead	0.2	0	0	HPO
1174	AP1S1	C2752013	Prenatal onset	0.2	0	0	HPO
1174	AP1S1	C3552463	Very poor growth	0.2	0	0	HPO
1174	AP1S1	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1174	AP1S1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1174	AP1S1	C4020876	Dull intelligence	0.2	0	0	HPO
1174	AP1S1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1175	AP2S1	C0020437	Hypercalcemia	0.200549453568426	0	0	HPO
1175	AP2S1	C0020599	Hypocalciuria	0.200274726784213	0	0	HPO
1175	AP2S1	C0023798	Lipoma	0.2	0	0	HPO
1175	AP2S1	C0030305	Pancreatitis	0.2	0	0	HPO
1175	AP2S1	C0151714	Hypermagnesemia	0.2	0	0	HPO
1175	AP2S1	C0221002	Hyperparathyroidism, Primary	0.200549453568426	0	0	HPO
1175	AP2S1	C0553730	Calcium pyrophosphate deposition disease	0.2	0	0	HPO
1175	AP2S1	C0745730	Multiple lipomata	0.2	0	0	HPO
1175	AP2S1	C1833372	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III	0.6	2	2	CTD_human;ORPHANET;UNIPROT
1175	AP2S1	C4025604	Parathormone-independent increased renal tubular calcium reabsorption	0.2	0	0	HPO
117531	TMC1	C1832978	Deafness, Autosomal Recessive 7	0.48	1	9	CTD_human;UNIPROT
117531	TMC1	C1847626	Deafness, Autosomal Dominant 36	0.480274726784213	1	2	CTD_human;UNIPROT
117579	RLN3	C0020507	Hyperplasia	0.2	1	0	CTD_human
117579	RLN3	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1176	AP3S1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
118	ADD1	C0020538	Hypertensive disease	0.322728179941388	2	0	CTD_human
118	ADD1	C0085580	Essential Hypertension	0.211263798152737	0	0	CTD_human
118	ADD1	C2239176	Liver carcinoma	0.2	1	0	CTD_human
1180	CLCN1	C0011168	Deglutition Disorders	0.2	0	0	HPO
1180	CLCN1	C0027125	Myotonia	0.210605765917729	0	0	HPO
1180	CLCN1	C0027127	Myotonia Congenita	0.427349744377411	1	29	CTD_human;ORPHANET
1180	CLCN1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1180	CLCN1	C0751360	Becker Generalized Myotonia	0.284120901763197	24	24	UNIPROT
1180	CLCN1	C1837352	Childhood onset	0.2	0	0	HPO
1180	CLCN1	C1837514	Phenotypic variability	0.2	0	0	HPO
1180	CLCN1	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1180	CLCN1	C1850663	Muscle hypertrophy of the lower extremities	0.2	0	0	HPO
1180	CLCN1	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1180	CLCN1	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1180	CLCN1	C1868623	Handgrip myotonia	0.2	0	0	HPO
1180	CLCN1	C2936781	Generalized Myotonia of Thomsen	0.61593415348436	14	16	CTD_human;ORPHANET;UNIPROT
1180	CLCN1	C4020837	EMG: spontaneous, repetitive electrical activity	0.2	0	0	HPO
1180	CLCN1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1180	CLCN1	C4025576	EMG: myotonic runs	0.2	0	0	HPO
1181	CLCN2	C0014553	Absence Epilepsy	0.203007639249027	0	0	CTD_human
1181	CLCN2	C0017638	Glioma	0.203007639249027	1	0	CTD_human
1181	CLCN2	C0018681	Headache	0.2	0	0	HPO
1181	CLCN2	C0270612	Leukoencephalopathies	0.200549453568426	0	0	HPO
1181	CLCN2	C0270850	Idiopathic generalized epilepsy	0.201098907136852	0	0	CTD_human
1181	CLCN2	C0270853	Myoclonic Epilepsy, Juvenile	0.400824180352639	0	0	CTD_human;ORPHANET
1181	CLCN2	C0750937	Ataxia, Appendicular	0.2	0	0	HPO
1181	CLCN2	C0751837	Gait Ataxia	0.2	0	0	HPO
1181	CLCN2	C2750893	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	0.2	1	2	UNIPROT
1181	CLCN2	C3810242	LEUKOENCEPHALOPATHY WITH ATAXIA	0.4	1	20	ORPHANET;UNIPROT
1181	CLCN2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1182	CLCN3	C0017638	Glioma	0.203557092817453	1	0	CTD_human
1182	CLCN3	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1182	CLCN3	C2931822	Nasopharyngeal carcinoma	0.202197814273705	1	0	CTD_human
1183	CLCN4	C0025362	Mental Retardation	0.200549453568426	0	0	HPO
1183	CLCN4	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1183	CLCN4	C0423903	Low intelligence	0.2	0	0	HPO
1183	CLCN4	C0917816	Mental deficiency	0.2	0	0	HPO
1183	CLCN4	C1843367	Poor school performance	0.2	0	0	HPO
1183	CLCN4	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
1183	CLCN4	C3887959	MENTAL RETARDATION, X-LINKED 49	0.2	2	1	UNIPROT
1183	CLCN4	C4020876	Dull intelligence	0.2	0	0	HPO
1184	CLCN5	C0017638	Glioma	0.2	1	0	CTD_human
1184	CLCN5	C0017668	Focal glomerulosclerosis	0.2	0	0	HPO
1184	CLCN5	C0017979	Glycosuria	0.2	0	0	HPO
1184	CLCN5	C0018021	Goiter	0.2	1	0	CTD_human
1184	CLCN5	C0020438	Hypercalciuria	0.203296721410557	0	0	HPO
1184	CLCN5	C0027709	Nephrocalcinosis	0.201648360705279	0	0	HPO
1184	CLCN5	C0029442	Osteomalacia	0.2	0	0	HPO
1184	CLCN5	C0033687	Proteinuria	0.2	1	0	CTD_human
1184	CLCN5	C0035078	Kidney Failure	0.201923087489492	0	0	HPO
1184	CLCN5	C0035579	Rickets	0.2	0	0	HPO
1184	CLCN5	C0085682	Hypophosphatemia	0.2	0	0	HPO
1184	CLCN5	C0151825	Bone pain	0.2	0	0	HPO
1184	CLCN5	C0178664	Glomerulosclerosis (disorder)	0.200274726784213	0	0	HPO
1184	CLCN5	C0238621	Aminoaciduria	0.2	0	0	HPO
1184	CLCN5	C0239937	Microscopic hematuria	0.2	0	0	HPO
1184	CLCN5	C0268079	Hyperphosphaturia	0.2	0	0	HPO
1184	CLCN5	C0349588	Short stature	0.2	0	0	HPO
1184	CLCN5	C0392525	Nephrolithiasis	0.206043989252688	0	0	HPO
1184	CLCN5	C0403720	X-linked recessive nephrolithiasis with renal failure	0.400549453568426	1	1	CTD_human;UNIPROT
1184	CLCN5	C0544755	Genu varum	0.2	0	0	HPO
1184	CLCN5	C0748318	Progressive renal failure	0.2	0	0	HPO
1184	CLCN5	C0878681	Dent's disease	0.22026426949714	3	0	CTD_human
1184	CLCN5	C0948023	Urine phosphorous concentration above normal	0.2	0	0	HPO
1184	CLCN5	C1561643	Chronic Kidney Diseases	0.2	0	0	HPO
1184	CLCN5	C1565489	Renal Insufficiency	0.200274726784213	0	0	HPO
1184	CLCN5	C1704375	Hypophosphatemic Rickets	0.200274726784213	0	0	HPO
1184	CLCN5	C1833324	Sparse bone trabeculae	0.2	0	0	HPO
1184	CLCN5	C1833325	Thin bony cortex	0.2	0	0	HPO
1184	CLCN5	C1833329	'Bulging' epiphyses	0.2	0	0	HPO
1184	CLCN5	C1833331	Increased serum 1,25-dihydroxyvitamin D3	0.2	0	0	HPO
1184	CLCN5	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1184	CLCN5	C1837081	Tibial bowing	0.2	0	0	HPO
1184	CLCN5	C1837514	Phenotypic variability	0.2	0	0	HPO
1184	CLCN5	C1838662	Metaphyseal irregularity	0.2	0	0	HPO
1184	CLCN5	C1838663	Enlargement of the wrists	0.2	0	0	HPO
1184	CLCN5	C1838664	Enlargement of the ankles	0.2	0	0	HPO
1184	CLCN5	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1184	CLCN5	C1839603	Proximal tubulopathy	0.2	0	0	HPO
1184	CLCN5	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1184	CLCN5	C1839606	Low-molecular-weight proteinuria	0.2	0	0	HPO
1184	CLCN5	C1839874	Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	0.4	3	3	CTD_human;UNIPROT
1184	CLCN5	C1845168	Hypophosphatemic Rickets, X-Linked Recessive	0.201098907136852	6	1	UNIPROT
1184	CLCN5	C1845169	Renal phosphate wasting	0.2	0	0	HPO
1184	CLCN5	C1845977	X- linked recessive	0.2	0	0	HPO
1184	CLCN5	C1848336	Dent disease 1	0.681098907136852	12	23	CTD_human;ORPHANET;UNIPROT
1184	CLCN5	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1184	CLCN5	C1854494	Slow progression	0.2	0	0	HPO
1184	CLCN5	C1858395	Tubular atrophy	0.2	0	0	HPO
1184	CLCN5	C1859461	Femoral bowing	0.2	0	0	HPO
1184	CLCN5	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1184	CLCN5	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1184	CLCN5	C1969372	Tubulointerstitial fibrosis	0.2	0	0	HPO
1184	CLCN5	C3536983	Familial Hypophosphatemic Rickets	0.200274726784213	0	0	CTD_human
1184	CLCN5	C3805574	Increased fracture rate	0.2	0	0	HPO
1184	CLCN5	C3806283	Frequent fractures	0.2	0	0	HPO
1184	CLCN5	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
1184	CLCN5	C4023801	Fibular bowing	0.2	0	0	HPO
1184	CLCN5	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
1184	CLCN5	C4280679	Increased calcium level in kidney	0.2	0	0	HPO
118429	ANTXR2	C0009917	Contracture	0.2	2	0	CTD_human
118429	ANTXR2	C0016045	fibroma	0.2	2	0	CTD_human
118429	ANTXR2	C0017567	Gingival Hypertrophy	0.2	2	0	CTD_human
118429	ANTXR2	C0029456	Osteoporosis	0.2	1	0	CTD_human
118429	ANTXR2	C0038013	Ankylosing spondylitis	0.202472541057918	2	2	CTD_human
118429	ANTXR2	C0221204	Lytic lesion	0.2	1	0	CTD_human
118429	ANTXR2	C2745948	Hyalinosis, Systemic	0.604120901763197	2	11	CTD_human;ORPHANET;UNIPROT
118490	MSS51	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1186	CLCN7	C0002871	Anemia	0.2	0	0	HPO
1186	CLCN7	C0003864	Arthritis	0.2	0	0	HPO
1186	CLCN7	C0005904	Body Temperature Changes	0.2	0	0	HPO
1186	CLCN7	C0008711	Chronic rhinitis	0.2	0	0	HPO
1186	CLCN7	C0010278	Craniosynostosis	0.2	0	0	HPO
1186	CLCN7	C0011053	Deafness	0.2	0	0	HPO
1186	CLCN7	C0015469	Facial paralysis	0.2	0	0	HPO
1186	CLCN7	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1186	CLCN7	C0019209	Hepatomegaly	0.2	0	0	HPO
1186	CLCN7	C0019214	Hepatosplenomegaly	0.2	0	0	HPO
1186	CLCN7	C0020255	Hydrocephalus	0.2	0	0	HPO
1186	CLCN7	C0028738	Nystagmus	0.2	0	0	HPO
1186	CLCN7	C0029124	Optic Atrophy	0.200274726784213	0	0	HPO
1186	CLCN7	C0029408	Degenerative polyarthritis	0.200274726784213	0	0	HPO
1186	CLCN7	C0029410	Osteoarthritis of hip	0.2	0	0	HPO
1186	CLCN7	C0029445	Bone necrosis	0.2	0	0	HPO
1186	CLCN7	C0029454	Osteopetrosis	0.42683709258898	0	0	CTD_human;HPO
1186	CLCN7	C0029882	Otitis Media	0.2	0	0	HPO
1186	CLCN7	C0030232	Pallor	0.2	0	0	HPO
1186	CLCN7	C0038002	Splenomegaly	0.2	0	0	HPO
1186	CLCN7	C0040822	Tremor	0.2	0	0	HPO
1186	CLCN7	C0042798	Low Vision	0.2	0	0	HPO
1186	CLCN7	C0085660	Aseptic necrosis	0.2	0	0	HPO
1186	CLCN7	C0151686	Growth retardation	0.2	0	0	HPO
1186	CLCN7	C0151825	Bone pain	0.2	0	0	HPO
1186	CLCN7	C0162119	Hemoglobin low	0.2	0	0	HPO
1186	CLCN7	C0206160	Reticulocytosis	0.2	0	0	HPO
1186	CLCN7	C0221354	Frontal bossing	0.2	0	0	HPO
1186	CLCN7	C0235942	Skull malformation	0.2	0	0	HPO
1186	CLCN7	C0239174	Late tooth eruption	0.2	0	0	HPO
1186	CLCN7	C0240231	Long bone fractures	0.2	0	0	HPO
1186	CLCN7	C0241054	Skin bulla	0.2	0	0	HPO
1186	CLCN7	C0242567	Opsoclonus	0.2	0	0	HPO
1186	CLCN7	C0266052	Precocious exfoliation of primary tooth	0.2	0	0	HPO
1186	CLCN7	C0271344	Compression of optic nerve	0.2	0	0	HPO
1186	CLCN7	C0339789	Congenital deafness	0.2	0	0	HPO
1186	CLCN7	C0349588	Short stature	0.2	0	0	HPO
1186	CLCN7	C0376175	Bell Palsy	0.2	0	0	HPO
1186	CLCN7	C0426790	Narrow thorax	0.2	0	0	HPO
1186	CLCN7	C0427055	Facial Paresis	0.2	0	0	HPO
1186	CLCN7	C0432261	Osteopetrosis - intermediate type	0.2	0	0	ORPHANET
1186	CLCN7	C0456070	Growth delay	0.2	0	0	HPO
1186	CLCN7	C0497156	Lymphadenopathy	0.2	0	0	HPO
1186	CLCN7	C0520474	Aseptic Necrosis of Bone	0.2	0	0	HPO
1186	CLCN7	C0522214	Abnormal visual evoked potential	0.2	0	0	HPO
1186	CLCN7	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1186	CLCN7	C0877326	Bone infarction	0.2	0	0	HPO
1186	CLCN7	C0878787	Growth failure	0.2	0	0	HPO
1186	CLCN7	C1290708	Osteomyelitis of mandible	0.2	0	0	HPO
1186	CLCN7	C1318518	Infantile malignant osteopetrosis	0.201373633921065	0	0	ORPHANET
1186	CLCN7	C1384666	hearing impairment	0.2	0	0	HPO
1186	CLCN7	C1832160	Poor temperature regulation	0.2	0	0	HPO
1186	CLCN7	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1186	CLCN7	C1837385	Poor growth	0.2	0	0	HPO
1186	CLCN7	C1839829	Short distal phalanges	0.2	0	0	HPO
1186	CLCN7	C1839866	Elevated serum acid phosphatase	0.2	0	0	HPO
1186	CLCN7	C1842083	Abnormality of the ribs	0.2	0	0	HPO
1186	CLCN7	C1843331	Diffuse, symmetrical osteosclerosis	0.2	0	0	HPO
1186	CLCN7	C1855340	Bowing of the long bones	0.2	0	0	HPO
1186	CLCN7	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1186	CLCN7	C1969106	Osteopetrosis, Autosomal Recessive 4	0.48	6	12	CTD_human;UNIPROT
1186	CLCN7	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1186	CLCN7	C2220104	Blister of skin	0.2	0	0	HPO
1186	CLCN7	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
1186	CLCN7	C3179239	Osteopetrosis Autosomal Dominant Type 2	0.48	5	5	ORPHANET;UNIPROT
1186	CLCN7	C3552463	Very poor growth	0.2	0	0	HPO
1186	CLCN7	C3665347	Visual Impairment	0.2	0	0	HPO
1186	CLCN7	C3805574	Increased fracture rate	0.2	0	0	HPO
1186	CLCN7	C3806283	Frequent fractures	0.2	0	0	HPO
1186	CLCN7	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1186	CLCN7	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1186	CLCN7	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1186	CLCN7	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1186	CLCN7	C4021785	Abnormality of the metacarpal bones	0.2	0	0	HPO
1186	CLCN7	C4023722	Abnormality of hair texture	0.2	0	0	HPO
1186	CLCN7	C4025251	Abnormality of the vertebral endplates	0.2	0	0	HPO
1186	CLCN7	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1186	CLCN7	C4072880	Abnormality of hair consistency	0.2	0	0	HPO
1186	CLCN7	C4072881	Abnormality of hair curl pattern	0.2	0	0	HPO
1186	CLCN7	C4073290	Abnormality of hair volume	0.2	0	0	HPO
1186	CLCN7	C4083076	Increased head circumference	0.2	0	0	HPO
1186	CLCN7	C4255213	Increased size of skull	0.2	0	0	HPO
1186	CLCN7	C4280476	Increased bone density in skeletal bones	0.2	0	0	HPO
1186	CLCN7	C4280663	Increased size of cranium	0.2	0	0	HPO
1186	CLCN7	C4280664	Big calvaria	0.2	0	0	HPO
1188	CLCNKB	C0004775	Bartter Disease	0.221631639066249	1	0	CTD_human
1188	CLCNKB	C0008521	Choroid Diseases	0.2	0	0	HPO
1188	CLCNKB	C0011175	Dehydration	0.200274726784213	0	0	HPO
1188	CLCNKB	C0013604	Edema	0.2	0	0	HPO
1188	CLCNKB	C0018784	Sensorineural Hearing Loss (disorder)	0.201098907136852	0	0	HPO
1188	CLCNKB	C0020224	Polyhydramnios	0.2	0	0	HPO
1188	CLCNKB	C0020428	Hyperaldosteronism	0.2	0	0	HPO
1188	CLCNKB	C0020621	Hypokalemia	0.2	0	0	HPO
1188	CLCNKB	C0020625	Hyponatremia	0.2	0	0	HPO
1188	CLCNKB	C0020649	Hypotension	0.2	0	0	HPO
1188	CLCNKB	C0025362	Mental Retardation	0.2	0	0	HPO
1188	CLCNKB	C0026827	Muscle hypotonia	0.2	0	0	HPO
1188	CLCNKB	C0032617	Polyuria	0.2	0	0	HPO
1188	CLCNKB	C0035078	Kidney Failure	0.200274726784213	0	0	HPO
1188	CLCNKB	C0085680	Hypochloremia (disorder)	0.2	0	0	HPO
1188	CLCNKB	C0151526	Premature Birth	0.2	0	0	HPO
1188	CLCNKB	C0231246	Failure to gain weight	0.2	0	0	HPO
1188	CLCNKB	C0233315	Premature birth of newborn	0.2	0	0	HPO
1188	CLCNKB	C0240783	Elevated plasma renin	0.2	0	0	HPO
1188	CLCNKB	C0268450	Gitelman Syndrome	0.202197814273705	0	0	ORPHANET
1188	CLCNKB	C0423903	Low intelligence	0.2	0	0	HPO
1188	CLCNKB	C0595901	Serum chloride level decreased (finding)	0.2	0	0	HPO
1188	CLCNKB	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1188	CLCNKB	C0740896	Hypokalemic hypochloremic metabolic alkalosis	0.2	0	0	HPO
1188	CLCNKB	C0740898	Hypokalemic metabolic alkalosis	0.2	0	0	HPO
1188	CLCNKB	C0746674	Generalized muscle weakness	0.2	0	0	HPO
1188	CLCNKB	C0853068	Glomerular filtration rate decreased	0.2	0	0	HPO
1188	CLCNKB	C0917816	Mental deficiency	0.2	0	0	HPO
1188	CLCNKB	C1565489	Renal Insufficiency	0.2	0	0	HPO
1188	CLCNKB	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1188	CLCNKB	C1843367	Poor school performance	0.2	0	0	HPO
1188	CLCNKB	C1846343	Bartter syndrome, type 3	0.60357144819477	1	7	CTD_human;ORPHANET;UNIPROT
1188	CLCNKB	C1846345	Hyperactive renin-angiotensin system	0.2	0	0	HPO
1188	CLCNKB	C1846347	Renal salt wasting	0.2	0	0	HPO
1188	CLCNKB	C1846348	Renal potassium wasting	0.2	0	0	HPO
1188	CLCNKB	C1846349	Impaired reabsorption of chloride	0.2	0	0	HPO
1188	CLCNKB	C1846351	Increased urinary potassium	0.2	0	0	HPO
1188	CLCNKB	C1846352	Increased urinary chloride	0.2	0	0	HPO
1188	CLCNKB	C1854301	Motor delay	0.2	0	0	HPO
1188	CLCNKB	C1865270	BARTTER SYNDROME, TYPE 4A	0.2	0	0	CTD_human
1188	CLCNKB	C1865279	Fetal polyuria	0.2	0	0	HPO
1188	CLCNKB	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1188	CLCNKB	C2752013	Prenatal onset	0.2	0	0	HPO
1188	CLCNKB	C3150267	Increased plasma renin activity	0.2	0	0	HPO
1188	CLCNKB	C3671887	Sodium concentration in urine above normal	0.2	0	0	HPO
1188	CLCNKB	C3714756	Intellectual Disability	0.2	0	0	HPO
1188	CLCNKB	C4020874	No development of motor milestones	0.2	0	0	HPO
1188	CLCNKB	C4020876	Dull intelligence	0.2	0	0	HPO
1188	CLCNKB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1188	CLCNKB	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
1188	CLCNKB	C4025836	Abnormality of the choroid	0.2	0	0	HPO
1188	CLCNKB	C4025840	Abnormality of the sclera	0.2	0	0	HPO
118813	ZFYVE27	C1853251	Spastic Paraplegia 33, Autosomal Dominant	0.4	1	1	CTD_human;UNIPROT
1191	CLU	C0002395	Alzheimer's Disease	0.258134727743681	3	5	CTD_human
1191	CLU	C0022658	Kidney Diseases	0.200274726784213	3	0	CTD_human
1191	CLU	C0024141	Lupus Erythematosus, Systemic	0.204106546385879	1	0	CTD_human
1191	CLU	C0025202	melanoma	0.203007639249027	1	0	CTD_human
1191	CLU	C0027686	Pathologic Neovascularization	0.2	1	0	CTD_human
1191	CLU	C0029408	Degenerative polyarthritis	0.200549453568426	2	0	CTD_human
1191	CLU	C0033578	Prostatic Neoplasms	0.297771108709948	1	0	CTD_human
1191	CLU	C0036341	Schizophrenia	0.200549453568426	1	0	PSYGENET
1191	CLU	C0036572	Seizures	0.2	1	0	CTD_human
1191	CLU	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
1191	CLU	C0333641	Atrophic	0.2	1	0	CTD_human
1191	CLU	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
1191	CLU	C2609414	Acute kidney injury	0.28	5	0	CTD_human
1191	CLU	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1191	CLU	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1192	CLIC1	C0019693	HIV Infections	0.2	1	0	CTD_human
1192	CLIC1	C0022548	Keloid	0.2	1	0	CTD_human
1192	CLIC1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1192	CLIC1	C0027627	Neoplasm Metastasis	0.201373633921065	1	0	CTD_human
1192	CLIC1	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1192	CLIC1	C0279626	Squamous cell carcinoma of esophagus	0.2	1	0	CTD_human
1192	CLIC1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1193	CLIC2	C0014544	Epilepsy	0.2	0	0	HPO
1193	CLIC2	C0018800	Cardiomegaly	0.2	0	0	HPO
1193	CLIC2	C0018801	Heart failure	0.2	0	0	HPO
1193	CLIC2	C0018802	Congestive heart failure	0.200274726784213	0	0	HPO
1193	CLIC2	C0020796	Profound Mental Retardation	0.2	0	0	HPO
1193	CLIC2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1193	CLIC2	C0036572	Seizures	0.200274726784213	0	0	HPO
1193	CLIC2	C0152421	Macrotia	0.2	0	0	HPO
1193	CLIC2	C0554972	Large auricle	0.2	0	0	HPO
1193	CLIC2	C0557874	Global developmental delay	0.2	0	0	HPO
1193	CLIC2	C0746940	nonverbal	0.2	0	0	HPO
1193	CLIC2	C1263023	Macroorchidism	0.2	0	0	HPO
1193	CLIC2	C1835581	Large protruding ears	0.2	0	0	HPO
1193	CLIC2	C1845977	X- linked recessive	0.2	0	0	HPO
1193	CLIC2	C1848570	Large, floppy ears	0.2	0	0	HPO
1193	CLIC2	C1850189	Large pinnae	0.2	0	0	HPO
1193	CLIC2	C1854882	Absent speech	0.2	0	0	HPO
1193	CLIC2	C1855062	Large dysplastic ears	0.2	0	0	HPO
1193	CLIC2	C1859698	Contractures of the large joints	0.2	0	0	HPO
1193	CLIC2	C1860838	Large prominent ears	0.2	0	0	HPO
1193	CLIC2	C1864897	Cognitive delay	0.2	0	0	HPO
1193	CLIC2	C3161330	Profound intellectual disabilities	0.2	0	0	HPO
1193	CLIC2	C3550913	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32	0.4	1	1	ORPHANET;UNIPROT
1193	CLIC2	C4020875	Mental and motor retardation	0.2	0	0	HPO
119391	GSTO2	C0005695	Bladder Neoplasm	0.202681755307501	1	0	CTD_human
119559	SFXN4	C3810001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	0.2	0	0	ORPHANET
12	SERPINA3	C0023794	Lipoidosis	0.2	3	0	CTD_human
12	SERPINA3	C0033578	Prostatic Neoplasms	0.202407028523288	1	0	CTD_human
12	SERPINA3	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
12	SERPINA3	C0349204	Nonorganic psychosis	0.200274726784213	1	0	PSYGENET
12	SERPINA3	C0400965	Antichymotrypsin deficiency-alpha-1	0.2	0	0	ORPHANET
120	ADD3	C0007786	Brain Ischemia	0.2	1	0	CTD_human
120	ADD3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
120	ADD3	C0235032	Neurotoxicity Syndromes	0.2	1	0	CTD_human
120	ADD3	C2751938	Cerebral Palsy, Spastic Quadriplegic, 1	0.2	0	0	ORPHANET
1200	TPP1	C0002395	Alzheimer's Disease	0.2	1	0	CTD_human
1200	TPP1	C0007758	Cerebellar Ataxia	0.200274726784213	0	0	HPO
1200	TPP1	C0014544	Epilepsy	0.200549453568426	0	0	HPO
1200	TPP1	C0023012	Language Delay	0.2	0	0	HPO
1200	TPP1	C0027066	Myoclonus	0.2	0	0	HPO
1200	TPP1	C0027877	Neuronal Ceroid-Lipofuscinoses	0.222129935477362	2	2	CTD_human
1200	TPP1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1200	TPP1	C0035304	Retinal Degeneration	0.2	0	0	HPO
1200	TPP1	C0036572	Seizures	0.203557092817453	0	0	HPO
1200	TPP1	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1200	TPP1	C0233715	Speech impairment	0.2	0	0	HPO
1200	TPP1	C0235946	Cerebral atrophy	0.200274726784213	0	0	HPO
1200	TPP1	C0241210	Speech Delay	0.2	0	0	HPO
1200	TPP1	C0454644	Delayed speech and language development	0.2	0	0	HPO
1200	TPP1	C1836474	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7	0.400274726784213	1	3	ORPHANET;UNIPROT
1200	TPP1	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1200	TPP1	C1836830	Developmental regression	0.2	0	0	HPO
1200	TPP1	C1836852	'Curvilinear profiles' ultrastructurally in cells	0.2	0	0	HPO
1200	TPP1	C1839364	Progressive visual loss	0.2	0	0	HPO
1200	TPP1	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1200	TPP1	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1200	TPP1	C1855019	Psychomotor regression	0.2	0	0	HPO
1200	TPP1	C1855685	Extinguished electroretinogram	0.2	0	0	HPO
1200	TPP1	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1200	TPP1	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1200	TPP1	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1200	TPP1	C1859828	Lipopigment in extraneuronal cells	0.2	0	0	HPO
1200	TPP1	C1876161	CEROID LIPOFUSCINOSIS, NEURONAL, 2	0.682197814273705	15	46	CTD_human;ORPHANET;UNIPROT
1200	TPP1	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1200	TPP1	C4020857	Neuronal lipopigments	0.2	0	0	HPO
1200	TPP1	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1200	TPP1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1200	TPP1	C4021781	Abnormal nervous system electrophysiology	0.2	0	0	HPO
1200	TPP1	C4025728	Increased neuronal autofluorescent lipopigment	0.2	0	0	HPO
1201	CLN3	C0003467	Anxiety	0.2	0	0	HPO
1201	CLN3	C0013362	Dysarthria	0.2	0	0	HPO
1201	CLN3	C0014544	Epilepsy	0.200274726784213	0	0	HPO
1201	CLN3	C0024437	Macular degeneration	0.2	0	0	HPO
1201	CLN3	C0025362	Mental Retardation	0.2	0	0	HPO
1201	CLN3	C0027066	Myoclonus	0.2	0	0	HPO
1201	CLN3	C0027877	Neuronal Ceroid-Lipofuscinoses	0.235534126394535	0	0	CTD_human
1201	CLN3	C0029124	Optic Atrophy	0.200274726784213	0	0	HPO
1201	CLN3	C0033975	Psychotic Disorders	0.2	0	0	HPO
1201	CLN3	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	HPO
1201	CLN3	C0036572	Seizures	0.200274726784213	0	0	HPO
1201	CLN3	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1201	CLN3	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1201	CLN3	C0235946	Cerebral atrophy	0.200274726784213	0	0	HPO
1201	CLN3	C0242422	Parkinsonian Disorders	0.2	0	0	HPO
1201	CLN3	C0271215	Blindness, Legal	0.2	0	0	HPO
1201	CLN3	C0423903	Low intelligence	0.2	0	0	HPO
1201	CLN3	C0456909	Blind Vision	0.2	0	0	HPO
1201	CLN3	C0497327	Dementia	0.2	0	0	HPO
1201	CLN3	C0742038	Cerebellar signs	0.2	0	0	HPO
1201	CLN3	C0751383	Juvenile Neuronal Ceroid Lipofuscinosis	0.513725881923581	2	64	ORPHANET;UNIPROT
1201	CLN3	C0917816	Mental deficiency	0.2	0	0	HPO
1201	CLN3	C1836842	Psychomotor degeneration	0.2	0	0	HPO
1201	CLN3	C1836843	Progressive inability to walk	0.2	0	0	HPO
1201	CLN3	C1836851	'Fingerprint profiles' ultrastructurally in cells	0.2	0	0	HPO
1201	CLN3	C1836852	'Curvilinear profiles' ultrastructurally in cells	0.2	0	0	HPO
1201	CLN3	C1836855	Vacuolated lymphocytes	0.2	0	0	HPO
1201	CLN3	C1839364	Progressive visual loss	0.2	0	0	HPO
1201	CLN3	C1843367	Poor school performance	0.2	0	0	HPO
1201	CLN3	C1855685	Extinguished electroretinogram	0.2	0	0	HPO
1201	CLN3	C1859828	Lipopigment in extraneuronal cells	0.2	0	0	HPO
1201	CLN3	C1866129	Cerebellar abnormalities	0.2	0	0	HPO
1201	CLN3	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1201	CLN3	C3714756	Intellectual Disability	0.2	0	0	HPO
1201	CLN3	C4020857	Neuronal lipopigments	0.2	0	0	HPO
1201	CLN3	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1201	CLN3	C4020876	Dull intelligence	0.2	0	0	HPO
1201	CLN3	C4020884	Anxiety disease	0.2	0	0	HPO
1201	CLN3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1201	CLN3	C4025728	Increased neuronal autofluorescent lipopigment	0.2	0	0	HPO
120114	FAT3	C0279626	Squamous cell carcinoma of esophagus	0.2	1	0	CTD_human
120227	CYP2R1	C0005944	Metabolic Bone Disorder	0.2	1	0	CTD_human
120227	CYP2R1	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
120227	CYP2R1	C0268689	Vitamin D-dependent rickets, type 1	0.2	0	0	ORPHANET
120227	CYP2R1	C1838657	Vitamin D Hydroxylation-Deficient Rickets, Type 1B	0.4	1	1	CTD_human;UNIPROT
1203	CLN5	C0014544	Epilepsy	0.200274726784213	0	0	HPO
1203	CLN5	C0025362	Mental Retardation	0.2	0	0	HPO
1203	CLN5	C0027066	Myoclonus	0.2	0	0	HPO
1203	CLN5	C0035304	Retinal Degeneration	0.2	0	0	HPO
1203	CLN5	C0036572	Seizures	0.2	0	0	HPO
1203	CLN5	C0233844	Clumsiness	0.2	0	0	HPO
1203	CLN5	C0423903	Low intelligence	0.2	0	0	HPO
1203	CLN5	C0917816	Mental deficiency	0.2	0	0	HPO
1203	CLN5	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1203	CLN5	C1836830	Developmental regression	0.2	0	0	HPO
1203	CLN5	C1836851	'Fingerprint profiles' ultrastructurally in cells	0.2	0	0	HPO
1203	CLN5	C1836852	'Curvilinear profiles' ultrastructurally in cells	0.2	0	0	HPO
1203	CLN5	C1839364	Progressive visual loss	0.2	0	0	HPO
1203	CLN5	C1843367	Poor school performance	0.2	0	0	HPO
1203	CLN5	C1850442	CEROID LIPOFUSCINOSIS, NEURONAL, 5	0.680274726784213	5	43	CTD_human;ORPHANET;UNIPROT
1203	CLN5	C1850447	'Rectilinear' profiles ultrastructurally	0.2	0	0	HPO
1203	CLN5	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1203	CLN5	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1203	CLN5	C1855019	Psychomotor regression	0.2	0	0	HPO
1203	CLN5	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1203	CLN5	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1203	CLN5	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1203	CLN5	C1866284	Motor deterioration	0.2	0	0	HPO
1203	CLN5	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1203	CLN5	C3714756	Intellectual Disability	0.2	0	0	HPO
1203	CLN5	C4020857	Neuronal lipopigments	0.2	0	0	HPO
1203	CLN5	C4020876	Dull intelligence	0.2	0	0	HPO
1203	CLN5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1203	CLN5	C4021781	Abnormal nervous system electrophysiology	0.2	0	0	HPO
1203	CLN5	C4025728	Increased neuronal autofluorescent lipopigment	0.2	0	0	HPO
120534	ARL14EP	C3714756	Intellectual Disability	0.2	1	0	CTD_human
1207	CLNS1A	C0025202	melanoma	0.2	1	0	CTD_human
120892	LRRK2	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
120892	LRRK2	C0014175	Endometriosis	0.2	1	0	CTD_human
120892	LRRK2	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
120892	LRRK2	C0030567	Parkinson Disease	0.44	10	3	CTD_human
120892	LRRK2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
120892	LRRK2	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
120892	LRRK2	C0242422	Parkinsonian Disorders	0.240559076422318	2	0	CTD_human
120892	LRRK2	C1846862	PARKINSON DISEASE 8 (disorder)	0.480824180352639	10	28	CTD_human;UNIPROT
120892	LRRK2	C3809811	PARKINSON DISEASE 19, JUVENILE-ONSET	0.2	0	0	ORPHANET
120892	LRRK2	C4274355	Autosomal dominant late onset Parkinson disease	0.201373633921065	0	0	ORPHANET
120892	LRRK2	C4275179	Young onset Parkinson disease	0.203021994626344	0	0	ORPHANET
1209	CLPTM1	C0030297	Pancreatic Neoplasm	0.2	1	0	CTD_human
121256	TMEM132D	C0023903	Liver neoplasms	0.200274726784213	1	0	CTD_human
121256	TMEM132D	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
121256	TMEM132D	C0149925	Small cell carcinoma of lung	0.200274726784213	1	0	CTD_human
121260	SLC15A4	C0024141	Lupus Erythematosus, Systemic	0.203231208875927	1	3	CTD_human
121278	TPH2	C0001956	alcohol use disorder	0.200549453568426	1	0	PSYGENET
121278	TPH2	C0004352	Autistic Disorder	0.21554107827658	1	0	CTD_human
121278	TPH2	C0005586	Bipolar Disorder	0.221621869309264	5	0	PSYGENET
121278	TPH2	C0005587	Depression, Bipolar	0.2	1	0	PSYGENET
121278	TPH2	C0011570	Mental Depression	0.225574944223205	5	0	PSYGENET
121278	TPH2	C0011581	Depressive disorder	0.406593442821114	6	0	CTD_human;PSYGENET
121278	TPH2	C0015967	Fever	0.2	1	0	CTD_human
121278	TPH2	C0033975	Psychotic Disorders	0.200824180352639	2	0	PSYGENET
121278	TPH2	C0036341	Schizophrenia	0.204879569581206	2	0	PSYGENET
121278	TPH2	C0036349	Paranoid Schizophrenia	0.200824180352639	1	0	PSYGENET
121278	TPH2	C0038586	Substance Use Disorders	0.200549453568426	1	0	PSYGENET
121278	TPH2	C0041696	Unipolar Depression	0.206593442821114	5	0	PSYGENET
121278	TPH2	C0085762	Alcohol abuse	0.200274726784213	1	0	PSYGENET
121278	TPH2	C0338715	Drug-induced depressive state	0.2	1	0	PSYGENET
121278	TPH2	C0525045	Mood Disorders	0.205205453522732	5	0	PSYGENET
121278	TPH2	C0600427	Cocaine Dependence	0.202956482091714	2	0	PSYGENET
121278	TPH2	C1263846	Attention deficit hyperactivity disorder	0.220420647857786	0	0	CTD_human
121278	TPH2	C1269683	Major Depressive Disorder	0.491956953436117	5	0	CTD_human;PSYGENET
121278	TPH2	C2751802	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	0.2	1	1	UNIPROT
1213	CLTC	C0079744	Diffuse Large B-Cell Lymphoma	0.200274726784213	1	0	CTD_human
1213	CLTC	C0334121	Inflammatory Myofibroblastic Tumor	0.201373633921065	0	0	ORPHANET
121391	KRT74	C0343073	Wooly hair	0.2	0	0	ORPHANET
121391	KRT74	C0345427	Woolly hair, congenital	0.2	0	0	ORPHANET
121391	KRT74	C1860238	WOOLLY HAIR, AUTOSOMAL DOMINANT	0.4	1	1	CTD_human;UNIPROT
121391	KRT74	C3151432	HYPOTRICHOSIS 3	0.2	1	1	UNIPROT
121391	KRT74	C3554117	ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE	0.2	1	1	UNIPROT
121512	FGD4	C1836336	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	0.681098907136852	2	7	CTD_human;ORPHANET;UNIPROT
121551	BTBD11	C0023903	Liver neoplasms	0.2	1	0	CTD_human
121601	ANO4	C0014175	Endometriosis	0.2	1	0	CTD_human
121601	ANO4	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
122042	RXFP2	C0010417	Cryptorchidism	0.494624353366301	1	1	CTD_human;UNIPROT
122953	JDP2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
122953	JDP2	C2239176	Liver carcinoma	0.2	1	0	CTD_human
123	PLIN2	C0015695	Fatty Liver	0.2	1	0	CTD_human
123	PLIN2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
123	PLIN2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
123016	TTC8	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	ORPHANET
123016	TTC8	C0752166	Bardet-Biedl Syndrome	0.406238848124954	0	0	CTD_human;ORPHANET
123016	TTC8	C3150715	RETINITIS PIGMENTOSA 51	0.2	0	0	CTD_human
123264	SLC51B	C0008370	Cholestasis	0.203007639249027	2	0	CTD_human
123264	SLC51B	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
123355	LRRC28	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1235	CCR6	C0003862	Arthralgia	0.2	0	0	HPO
1235	CCR6	C0003864	Arthritis	0.200549453568426	0	0	HPO
1235	CCR6	C0003873	Rheumatoid Arthritis	0.208161935614446	3	4	CTD_human
1235	CCR6	C0004364	Autoimmune Diseases	0.201373633921065	0	0	HPO
1235	CCR6	C0009324	Ulcerative Colitis	0.201098907136852	1	0	CTD_human
1235	CCR6	C0009917	Contracture	0.2	0	0	HPO
1235	CCR6	C0009918	Contracture of joint	0.2	0	0	HPO
1235	CCR6	C0011168	Deglutition Disorders	0.2	0	0	HPO
1235	CCR6	C0011334	Dental caries	0.2	0	0	HPO
1235	CCR6	C0013404	Dyspnea	0.2	0	0	HPO
1235	CCR6	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1235	CCR6	C0018834	Heartburn	0.2	0	0	HPO
1235	CCR6	C0020517	Hypersensitivity	0.2	1	0	CTD_human
1235	CCR6	C0027498	Nausea and vomiting	0.2	0	0	HPO
1235	CCR6	C0028961	Oliguria	0.2	0	0	HPO
1235	CCR6	C0032285	Pneumonia	0.2	1	0	CTD_human
1235	CCR6	C0034069	Pulmonary Fibrosis	0.2	0	0	HPO
1235	CCR6	C0037299	Skin Ulcer	0.2	0	0	HPO
1235	CCR6	C0042900	Vitiligo	0.204814057046576	1	0	CTD_human
1235	CCR6	C0043352	Xerostomia	0.2	0	0	HPO
1235	CCR6	C0151786	Muscle Weakness	0.2	0	0	HPO
1235	CCR6	C0178417	Anhedonia	0.2	1	0	PSYGENET
1235	CCR6	C0206138	CREST Syndrome	0.2	0	0	ORPHANET
1235	CCR6	C0221204	Lytic lesion	0.2	0	0	HPO
1235	CCR6	C0235896	Infiltrate of lung	0.2	0	0	HPO
1235	CCR6	C0333068	Flexion contracture	0.2	0	0	HPO
1235	CCR6	C0748540	Scleroderma, Limited	0.2	0	0	ORPHANET
1235	CCR6	C1258104	Diffuse Scleroderma	0.2	0	0	ORPHANET
1235	CCR6	C1384606	Dyspareunia	0.2	0	0	HPO
1235	CCR6	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1235	CCR6	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1235	CCR6	C3714745	Malabsorption	0.2	0	0	HPO
1235	CCR6	C4021910	Narrow foramen obturatorium	0.2	0	0	HPO
1235	CCR6	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
1235	CCR6	C4022020	Mucosal telangiectasiae	0.2	0	0	HPO
1235	CCR6	C4280623	Rotting teeth	0.2	0	0	HPO
1236	CCR7	C0023493	Adult T-Cell Lymphoma/Leukemia	0.200274726784213	1	0	CTD_human
1236	CCR7	C0038220	Status Epilepticus	0.2	1	0	CTD_human
1236	CCR7	C0178417	Anhedonia	0.2	1	0	PSYGENET
123606	NIPA1	C1838192	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)	0.600549453568426	2	2	CTD_human;ORPHANET;UNIPROT
123624	AGBL1	C0016781	Fuchs Endothelial Dystrophy	0.200274726784213	0	0	ORPHANET
123624	AGBL1	C3809798	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	0.2	1	2	UNIPROT
123872	DNAAF1	C0008780	Ciliary Motility Disorders	0.200549453568426	0	0	ORPHANET
123872	DNAAF1	C0022521	Kartagener Syndrome	0.200824180352639	0	0	ORPHANET
123872	DNAAF1	C2750790	CILIARY DYSKINESIA, PRIMARY, 13	0.4	1	5	CTD_human;UNIPROT
123920	CMTM3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1240	CMKLR1	C0011570	Mental Depression	0.2	1	0	PSYGENET
1240	CMKLR1	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1241	LTB4R	C0002792	anaphylaxis	0.2	1	0	CTD_human
1241	LTB4R	C0021368	Inflammation	0.202732912464814	1	0	CTD_human
1241	LTB4R	C0023895	Liver diseases	0.2	1	0	CTD_human
1244	ABCC2	C0002170	Alopecia	0.200274726784213	1	0	CTD_human
1244	ABCC2	C0003873	Rheumatoid Arthritis	0.202407028523288	1	0	CTD_human
1244	ABCC2	C0005424	Biliary Tract Diseases	0.2	0	0	HPO
1244	ABCC2	C0008370	Cholestasis	0.282197814273705	3	0	CTD_human
1244	ABCC2	C0009404	Colorectal Neoplasms	0.205139940988102	1	0	CTD_human
1244	ABCC2	C0013182	Drug Allergy	0.2	1	0	CTD_human
1244	ABCC2	C0017178	Gastrointestinal Diseases	0.2	1	0	CTD_human
1244	ABCC2	C0018799	Heart Diseases	0.2	1	0	CTD_human
1244	ABCC2	C0020433	Hyperbilirubinemia	0.201648360705279	1	0	CTD_human
1244	ABCC2	C0022346	Icterus	0.200549453568426	0	0	HPO
1244	ABCC2	C0022350	Jaundice, Chronic Idiopathic	0.701631639066249	5	15	CTD_human;ORPHANET;UNIPROT
1244	ABCC2	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
1244	ABCC2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1244	ABCC2	C0027765	nervous system disorder	0.2	1	0	CTD_human
1244	ABCC2	C0036572	Seizures	0.200549453568426	1	0	CTD_human
1244	ABCC2	C0038220	Status Epilepticus	0.2	1	0	CTD_human
1244	ABCC2	C0041755	Adverse reaction to drug	0.2	3	0	CTD_human
1244	ABCC2	C0268307	Conjugated hyperbilirubinemia	0.203296721410557	0	0	HPO
1244	ABCC2	C0279626	Squamous cell carcinoma of esophagus	0.200549453568426	1	0	CTD_human
1244	ABCC2	C0522153	Urine color abnormal	0.2	0	0	HPO
1244	ABCC2	C0549613	BILIARY TRACT ABNORMALITY	0.2	0	0	HPO
1244	ABCC2	C1168401	Squamous cell carcinoma of the head and neck	0.200274726784213	1	0	CTD_human
1244	ABCC2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1244	ABCC2	C4025362	Abnormality of the gastric mucosa	0.2	0	0	HPO
1244	ABCC2	C4277682	Chemical and Drug Induced Liver Injury	0.2	2	0	CTD_human
124454	EARS2	C3554079	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	0.400824180352639	3	12	ORPHANET;UNIPROT
124512	METTL23	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
124583	CANT1	C0432242	Desbuquois syndrome	0.402197814273705	0	0	CTD_human;ORPHANET
124583	CANT1	C4012146	DESBUQUOIS DYSPLASIA 1	0.2	4	17	UNIPROT
124925	SEZ6	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
124935	SLC43A2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
124997	WDR81	C0394006	Dysequilibrium syndrome	0.200274726784213	0	0	ORPHANET
124997	WDR81	C2750234	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	0.2	1	2	UNIPROT
125	ADH1B	C0001969	Alcoholic Intoxication	0.203231208875927	5	0	PSYGENET
125	ADH1B	C0001973	Alcoholic Intoxication, Chronic	0.509395765910802	8	1	CTD_human;PSYGENET
125	ADH1B	C0007785	Cerebral Infarction	0.205414667772315	1	0	CTD_human
125	ADH1B	C0009404	Colorectal Neoplasms	0.205465824929628	1	0	CTD_human
125	ADH1B	C0014859	Esophageal Neoplasms	0.25834226326164	1	0	CTD_human
125	ADH1B	C0023055	Laryngeal neoplasm	0.209628114093152	1	0	CTD_human
125	ADH1B	C0026640	Mouth Neoplasms	0.209628114093152	1	0	CTD_human
125	ADH1B	C0028754	Obesity	0.200549453568426	1	0	CTD_human
125	ADH1B	C0031347	Pharyngeal Neoplasms	0.207221085569864	1	0	CTD_human
125	ADH1B	C0033975	Psychotic Disorders	0.200549453568426	1	0	PSYGENET
125	ADH1B	C0085762	Alcohol abuse	0.226268099506585	5	0	PSYGENET
125	ADH1B	C0279626	Squamous cell carcinoma of esophagus	0.204670355331623	1	0	CTD_human
125	ADH1B	C0349464	Wernicke-Korsakoff Syndrome	0.200274726784213	1	0	PSYGENET
125	ADH1B	C0393756	Hangover from alcohol	0.2	1	0	PSYGENET
125336	LOXHD1	C2746083	DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)	0.2	0	0	CTD_human
1258	CNGB1	C0017601	Glaucoma	0.2	0	0	HPO
1258	CNGB1	C0018777	Conductive hearing loss	0.2	0	0	HPO
1258	CNGB1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1258	CNGB1	C0020459	Hyperinsulinism	0.2	0	0	HPO
1258	CNGB1	C0020619	Hypogonadism	0.2	0	0	HPO
1258	CNGB1	C0022578	Keratoconus	0.2	0	0	HPO
1258	CNGB1	C0025362	Mental Retardation	0.2	0	0	HPO
1258	CNGB1	C0028077	Night Blindness	0.2	0	0	HPO
1258	CNGB1	C0028738	Nystagmus	0.2	0	0	HPO
1258	CNGB1	C0028754	Obesity	0.2	0	0	HPO
1258	CNGB1	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1258	CNGB1	C0029124	Optic Atrophy	0.2	0	0	HPO
1258	CNGB1	C0035334	Retinitis Pigmentosa	0.603231208875927	1	2	CTD_human;HPO;ORPHANET
1258	CNGB1	C0085636	Photophobia	0.2	0	0	HPO
1258	CNGB1	C0086543	Cataract	0.2	0	0	HPO
1258	CNGB1	C0241688	Loss of peripheral vision	0.2	0	0	HPO
1258	CNGB1	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
1258	CNGB1	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1258	CNGB1	C0271215	Blindness, Legal	0.2	0	0	HPO
1258	CNGB1	C0423903	Low intelligence	0.2	0	0	HPO
1258	CNGB1	C0456909	Blind Vision	0.2	0	0	HPO
1258	CNGB1	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
1258	CNGB1	C0917816	Mental deficiency	0.2	0	0	HPO
1258	CNGB1	C1510497	Lens Opacities	0.2	0	0	HPO
1258	CNGB1	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1258	CNGB1	C1836926	Fundus with peripheral 'bony spicules'	0.2	0	0	HPO
1258	CNGB1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1258	CNGB1	C1840077	Anteverted nostril	0.2	0	0	HPO
1258	CNGB1	C1843367	Poor school performance	0.2	0	0	HPO
1258	CNGB1	C1849367	Nasal bridge wide	0.2	0	0	HPO
1258	CNGB1	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1258	CNGB1	C2937228	Tunnel visual field constriction	0.2	0	0	HPO
1258	CNGB1	C3151066	RETINITIS PIGMENTOSA 45	0.2	1	6	UNIPROT
1258	CNGB1	C3714756	Intellectual Disability	0.2	0	0	HPO
1258	CNGB1	C4020876	Dull intelligence	0.2	0	0	HPO
1258	CNGB1	C4020885	Difficulties with night vision	0.2	0	0	HPO
1258	CNGB1	C4020887	Photodysphoria	0.2	0	0	HPO
1258	CNGB1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1258	CNGB1	C4021786	Atypical scarring of skin	0.2	0	0	HPO
1258	CNGB1	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
1258	CNGB1	C4024818	Night blindness, progressive	0.2	0	0	HPO
1259	CNGA1	C0017601	Glaucoma	0.2	0	0	HPO
1259	CNGA1	C0018777	Conductive hearing loss	0.2	0	0	HPO
1259	CNGA1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1259	CNGA1	C0020459	Hyperinsulinism	0.2	0	0	HPO
1259	CNGA1	C0020619	Hypogonadism	0.2	0	0	HPO
1259	CNGA1	C0022578	Keratoconus	0.2	0	0	HPO
1259	CNGA1	C0025362	Mental Retardation	0.2	0	0	HPO
1259	CNGA1	C0028077	Night Blindness	0.2	0	0	HPO
1259	CNGA1	C0028738	Nystagmus	0.2	0	0	HPO
1259	CNGA1	C0028754	Obesity	0.2	0	0	HPO
1259	CNGA1	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1259	CNGA1	C0029124	Optic Atrophy	0.2	0	0	HPO
1259	CNGA1	C0035334	Retinitis Pigmentosa	0.606015278498054	1	4	CTD_human;HPO;ORPHANET
1259	CNGA1	C0085636	Photophobia	0.2	0	0	HPO
1259	CNGA1	C0086543	Cataract	0.2	0	0	HPO
1259	CNGA1	C0235095	Visual field constriction	0.2	0	0	HPO
1259	CNGA1	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
1259	CNGA1	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1259	CNGA1	C0271215	Blindness, Legal	0.2	0	0	HPO
1259	CNGA1	C0423903	Low intelligence	0.2	0	0	HPO
1259	CNGA1	C0456909	Blind Vision	0.2	0	0	HPO
1259	CNGA1	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
1259	CNGA1	C0917816	Mental deficiency	0.2	0	0	HPO
1259	CNGA1	C1510497	Lens Opacities	0.2	0	0	HPO
1259	CNGA1	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1259	CNGA1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1259	CNGA1	C1840077	Anteverted nostril	0.2	0	0	HPO
1259	CNGA1	C1843367	Poor school performance	0.2	0	0	HPO
1259	CNGA1	C1849367	Nasal bridge wide	0.2	0	0	HPO
1259	CNGA1	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1259	CNGA1	C3151059	RETINITIS PIGMENTOSA 49	0.2	1	3	UNIPROT
1259	CNGA1	C3714756	Intellectual Disability	0.2	0	0	HPO
1259	CNGA1	C4020876	Dull intelligence	0.2	0	0	HPO
1259	CNGA1	C4020885	Difficulties with night vision	0.2	0	0	HPO
1259	CNGA1	C4020887	Photodysphoria	0.2	0	0	HPO
1259	CNGA1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1259	CNGA1	C4021786	Atypical scarring of skin	0.2	0	0	HPO
1259	CNGA1	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
1259	CNGA1	C4024818	Night blindness, progressive	0.2	0	0	HPO
125972	CALR3	C3151266	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19	0.2	1	1	UNIPROT
125997	MBD3L2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
126	ADH1C	C0001969	Alcoholic Intoxication	0.200549453568426	5	0	PSYGENET
126	ADH1C	C0001973	Alcoholic Intoxication, Chronic	0.477967441521422	6	0	CTD_human;PSYGENET
126	ADH1C	C0026640	Mouth Neoplasms	0.216849199663016	1	0	CTD_human
126	ADH1C	C0085762	Alcohol abuse	0.212859322969079	4	0	PSYGENET
126	ADH1C	C3160718	PARKINSON DISEASE, LATE-ONSET	0.2	0	0	CTD_human
126129	CPT1C	C0025202	melanoma	0.2	1	0	CTD_human
126129	CPT1C	C0031117	Peripheral Neuropathy	0.200274726784213	1	0	CTD_human
126129	CPT1C	C4225387	SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT	0.4	1	1	ORPHANET;UNIPROT
126133	ALDH16A1	C0018099	Gout	0.2	1	0	CTD_human
126133	ALDH16A1	C0268117	Gout, HPRT-Related	0.2	1	0	CTD_human
126133	ALDH16A1	C0740394	Hyperuricemia	0.200274726784213	1	0	CTD_human
126308	MOB3A	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
126326	GIPC3	C1866094	DEAFNESS, AUTOSOMAL RECESSIVE 15	0.2	2	6	UNIPROT
126328	NDUFA11	C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	0.2	0	0	CTD_human
126328	NDUFA11	C2936907	NADH:Q(1) Oxidoreductase deficiency	0.2	0	0	ORPHANET
126393	HSPB6	C0018799	Heart Diseases	0.200549453568426	1	0	CTD_human
126393	HSPB6	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
126410	CYP4F22	C0079154	Congenital Nonbullous Ichthyosiform Erythroderma	0.200274726784213	0	0	ORPHANET
126410	CYP4F22	C1858133	Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive	0.2	1	5	UNIPROT
126410	CYP4F22	C1858142	ICHTHYOSIS, LAMELLAR, 3	0.2	0	0	CTD_human
1265	CNN2	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1266	CNN3	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1266	CNN3	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1266	CNN3	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1267	CNP	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1267	CNP	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
1267	CNP	C0036341	Schizophrenia	0.222706421068799	5	0	PSYGENET
1267	CNP	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
1267	CNP	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
126792	B3GALT6	C0432243	Spondyloepimetaphyseal Dysplasia With Joint Laxity	0.400274726784213	2	8	ORPHANET;UNIPROT
126792	B3GALT6	C1869122	EHLERS-DANLOS SYNDROME, PROGEROID FORM	0.2	0	0	ORPHANET
126792	B3GALT6	C3809210	EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2	0.2	1	5	UNIPROT
1269	CNR2	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
1269	CNR2	C0004153	Atherosclerosis	0.201098907136852	1	0	CTD_human
1269	CNR2	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1269	CNR2	C0011570	Mental Depression	0.201098907136852	5	0	PSYGENET
1269	CNR2	C0011581	Depressive disorder	0.401098907136852	5	0	CTD_human;PSYGENET
1269	CNR2	C0020429	Hyperalgesia	0.200274726784213	2	0	CTD_human
1269	CNR2	C0021053	Immune System Diseases	0.2	1	0	CTD_human
1269	CNR2	C0023467	Leukemia, Myelocytic, Acute	0.205465824929628	1	0	CTD_human
1269	CNR2	C0023890	Liver Cirrhosis	0.200274726784213	1	0	CTD_human
1269	CNR2	C0024809	Marijuana Abuse	0.200824180352639	1	0	PSYGENET
1269	CNR2	C0030297	Pancreatic Neoplasm	0.2	1	0	CTD_human
1269	CNR2	C0030305	Pancreatitis	0.200274726784213	1	0	CTD_human
1269	CNR2	C0033975	Psychotic Disorders	0.2	1	0	PSYGENET
1269	CNR2	C0036341	Schizophrenia	0.203231208875927	4	0	PSYGENET
1269	CNR2	C0085762	Alcohol abuse	0.200274726784213	1	0	PSYGENET
1269	CNR2	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1269	CNR2	C3160814	Cannabis use	0.2	1	0	PSYGENET
1272	CNTN1	C0003706	Arachnodactyly	0.2	0	0	HPO
1272	CNTN1	C0020224	Polyhydramnios	0.2	0	0	HPO
1272	CNTN1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1272	CNTN1	C0024032	Low Birth Weights	0.2	0	0	HPO
1272	CNTN1	C0085623	Akinesia	0.2	0	0	HPO
1272	CNTN1	C0158113	Contracture of joint of hand	0.2	0	0	HPO
1272	CNTN1	C0221358	Long narrow head	0.2	0	0	HPO
1272	CNTN1	C0234146	Absent reflex	0.2	0	0	HPO
1272	CNTN1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
1272	CNTN1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1272	CNTN1	C0278124	Absent tendon reflex	0.2	0	0	HPO
1272	CNTN1	C0685409	Congenital Camptodactyly	0.2	0	0	HPO
1272	CNTN1	C1276035	Pena-Shokeir syndrome type I	0.2	0	0	HPO
1272	CNTN1	C1446712	Overlapping fingers	0.2	0	0	HPO
1272	CNTN1	C1837142	Poor suck	0.2	0	0	HPO
1272	CNTN1	C1837404	High, narrow palate	0.2	0	0	HPO
1272	CNTN1	C1844947	Death in early childhood	0.2	0	0	HPO
1272	CNTN1	C1849025	Oval face	0.2	0	0	HPO
1272	CNTN1	C1858430	Death in infancy	0.2	0	0	HPO
1272	CNTN1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1272	CNTN1	C2675527	Myopathy, Congenital, Compton-North	0.48	0	0	CTD_human;ORPHANET
1272	CNTN1	C3151520	Early severe fetal akinesia sequence	0.2	0	0	HPO
1272	CNTN1	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1272	CNTN1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1272	CNTN1	C4280653	Turridolichocephaly	0.2	0	0	HPO
1272	CNTN1	C4280654	Narrow skull shape	0.2	0	0	HPO
1272	CNTN1	C4280655	Narrow head shape	0.2	0	0	HPO
1272	CNTN1	C4280656	Narrow cranium shape	0.2	0	0	HPO
1277	COL1A1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1277	COL1A1	C0002949	Aneurysm, Dissecting	0.2	1	0	CTD_human
1277	COL1A1	C0003504	Aortic Valve Insufficiency	0.2	1	0	CTD_human
1277	COL1A1	C0004364	Autoimmune Diseases	0.2	1	0	CTD_human
1277	COL1A1	C0006157	Breech Presentation	0.2	0	0	HPO
1277	COL1A1	C0006386	Bunion	0.2	0	0	HPO
1277	COL1A1	C0006663	Calcinosis	0.2	1	0	CTD_human
1277	COL1A1	C0007114	Malignant neoplasm of skin	0.200274726784213	0	0	HPO
1277	COL1A1	C0007642	Cellulitis	0.2	0	0	HPO
1277	COL1A1	C0008311	Cholangitis	0.2	1	0	CTD_human
1277	COL1A1	C0011053	Deafness	0.202407028523288	0	0	HPO
1277	COL1A1	C0011436	Dentinogenesis Imperfecta	0.200274726784213	0	0	HPO
1277	COL1A1	C0013491	Ecchymosis	0.2	0	0	HPO
1277	COL1A1	C0013581	Ectopia Lentis	0.2	0	0	HPO
1277	COL1A1	C0015967	Fever	0.2	0	0	HPO
1277	COL1A1	C0016057	Fibrosarcoma	0.200549453568426	0	0	HPO
1277	COL1A1	C0016059	Fibrosis	0.2	1	0	CTD_human
1277	COL1A1	C0016202	Flatfoot	0.2	0	0	HPO
1277	COL1A1	C0016382	Flushing	0.2	0	0	HPO
1277	COL1A1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1277	COL1A1	C0018536	Hallux Valgus	0.2	0	0	HPO
1277	COL1A1	C0018772	Hearing Loss, Partial	0.202407028523288	0	0	HPO
1277	COL1A1	C0018801	Heart failure	0.2	0	0	HPO
1277	COL1A1	C0018802	Congestive heart failure	0.200274726784213	0	0	HPO
1277	COL1A1	C0018824	Heart valve disease	0.2	1	0	CTD_human
1277	COL1A1	C0018834	Heartburn	0.2	0	0	HPO
1277	COL1A1	C0019288	Hernia, Femoral	0.2	0	0	HPO
1277	COL1A1	C0019294	Hernia, Inguinal	0.200274726784213	0	0	HPO
1277	COL1A1	C0019322	Umbilical hernia	0.2	0	0	HPO
1277	COL1A1	C0020453	Hyperesthesia	0.2	0	0	HPO
1277	COL1A1	C0020497	Cortical Congenital Hyperostosis	0.604381273170092	1	3	CTD_human;ORPHANET;UNIPROT
1277	COL1A1	C0020538	Hypertensive disease	0.2	1	0	CTD_human
1277	COL1A1	C0020542	Pulmonary Hypertension	0.28	0	0	HPO
1277	COL1A1	C0022548	Keloid	0.200274726784213	1	0	CTD_human
1277	COL1A1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1277	COL1A1	C0023890	Liver Cirrhosis	0.202681755307501	4	0	CTD_human
1277	COL1A1	C0023893	Liver Cirrhosis, Experimental	0.28	3	0	CTD_human
1277	COL1A1	C0023931	Lobstein's Disease	0.488516530310606	12	25	ORPHANET;UNIPROT
1277	COL1A1	C0024032	Low Birth Weights	0.2	0	0	HPO
1277	COL1A1	C0025990	Micrognathism	0.2	0	0	HPO
1277	COL1A1	C0026267	Mitral Valve Prolapse Syndrome	0.2	0	0	HPO
1277	COL1A1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1277	COL1A1	C0027092	Myopia	0.210177567661578	0	0	HPO
1277	COL1A1	C0027726	Nephrotic Syndrome	0.200274726784213	1	0	CTD_human
1277	COL1A1	C0029172	Oral Submucous Fibrosis	0.202681755307501	1	0	CTD_human
1277	COL1A1	C0029408	Degenerative polyarthritis	0.209470057000881	0	0	HPO
1277	COL1A1	C0029434	Osteogenesis Imperfecta	0.27791397599172	1	26	CTD_human
1277	COL1A1	C0029453	Osteopenia	0.203780662444353	0	0	HPO
1277	COL1A1	C0029456	Osteoporosis	0.273161475500207	0	0	CTD_human
1277	COL1A1	C0029899	Otosclerosis	0.213301876602548	0	0	HPO
1277	COL1A1	C0032209	Platybasia	0.2	0	0	HPO
1277	COL1A1	C0034088	Pulmonary Valve Insufficiency	0.2	0	0	HPO
1277	COL1A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1277	COL1A1	C0037286	Skin Neoplasms	0.200274726784213	0	0	HPO
1277	COL1A1	C0037299	Skin Ulcer	0.2	0	0	HPO
1277	COL1A1	C0037932	Curvature of spine	0.2	0	0	HPO
1277	COL1A1	C0041834	Erythema	0.2	0	0	HPO
1277	COL1A1	C0042345	Varicosity	0.2	0	0	HPO
1277	COL1A1	C0086437	Joint laxity	0.200274726784213	0	0	HPO
1277	COL1A1	C0149721	Left Ventricular Hypertrophy	0.2	1	0	CTD_human
1277	COL1A1	C0151526	Premature Birth	0.209628114093152	0	0	HPO
1277	COL1A1	C0151786	Muscle Weakness	0.2	0	0	HPO
1277	COL1A1	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1277	COL1A1	C0158713	Bilateral congenital dislocation of hip	0.2	0	0	HPO
1277	COL1A1	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1277	COL1A1	C0162154	Atrophic scar	0.2	0	0	HPO
1277	COL1A1	C0162627	Skin Diseases, Bacterial	0.2	0	0	HPO
1277	COL1A1	C0221354	Frontal bossing	0.2	0	0	HPO
1277	COL1A1	C0222716	Structure of wormian bone	0.2	0	0	HPO
1277	COL1A1	C0233315	Premature birth of newborn	0.2	0	0	HPO
1277	COL1A1	C0233514	Abnormal behavior	0.2	0	0	HPO
1277	COL1A1	C0235833	Congenital diaphragmatic hernia	0.2	0	0	HPO
1277	COL1A1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
1277	COL1A1	C0238669	Aortic root dilatation	0.2	0	0	HPO
1277	COL1A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1277	COL1A1	C0240538	Convex nasal ridge	0.2	0	0	HPO
1277	COL1A1	C0241074	Skin hyperelastic	0.2	0	0	HPO
1277	COL1A1	C0241178	Velvety skin	0.2	0	0	HPO
1277	COL1A1	C0241181	Fragile skin	0.2	0	0	HPO
1277	COL1A1	C0262361	abnormal growth	0.2	0	0	HPO
1277	COL1A1	C0264133	Acquired flat foot	0.2	0	0	HPO
1277	COL1A1	C0265004	Dilatation of aorta	0.2	0	0	HPO
1277	COL1A1	C0266614	Bat ear	0.2	0	0	HPO
1277	COL1A1	C0268335	Ehlers-Danlos syndrome type 1	0.4	0	0	CTD_human;ORPHANET
1277	COL1A1	C0268336	Ehlers-Danlos syndrome type 2	0.2	0	0	ORPHANET
1277	COL1A1	C0268345	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	0.400274726784213	0	0	CTD_human;ORPHANET
1277	COL1A1	C0268358	Osteogenesis imperfecta, dominant perinatal lethal	0.682197814273705	39	1	CTD_human;ORPHANET;UNIPROT
1277	COL1A1	C0268362	Osteogenesis imperfecta type III (disorder)	0.682747267842131	18	10	CTD_human;ORPHANET;UNIPROT
1277	COL1A1	C0268363	Osteogenesis imperfecta type IV (disorder)	0.681648360705279	14	4	CTD_human;ORPHANET;UNIPROT
1277	COL1A1	C0334008	Pachyderma	0.2	0	0	HPO
1277	COL1A1	C0339789	Congenital deafness	0.2	0	0	HPO
1277	COL1A1	C0349588	Short stature	0.2	0	0	HPO
1277	COL1A1	C0392784	Dermatofibrosarcoma Protuberans	0.213736339210655	0	0	ORPHANET
1277	COL1A1	C0409495	Protrusio acetabuli	0.2	0	0	HPO
1277	COL1A1	C0423757	Thin skin	0.2	0	0	HPO
1277	COL1A1	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1277	COL1A1	C0426824	Beading of ribs	0.2	0	0	HPO
1277	COL1A1	C0455988	Hydrops Fetalis, Non-Immune	0.2	0	0	HPO
1277	COL1A1	C0456132	Large fontanelle	0.2	0	0	HPO
1277	COL1A1	C0497552	Congenital neurologic anomalies	0.2	0	0	HPO
1277	COL1A1	C0542514	Blue sclera	0.2	0	0	HPO
1277	COL1A1	C0546964	Genu recurvatum	0.2	0	0	HPO
1277	COL1A1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1277	COL1A1	C0700208	Acquired scoliosis	0.200549453568426	0	0	HPO
1277	COL1A1	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1277	COL1A1	C0747078	Generalized osteopenia	0.2	0	0	HPO
1277	COL1A1	C1384666	hearing impairment	0.202407028523288	0	0	HPO
1277	COL1A1	C1390474	Increased susceptibility to fractures	0.2	0	0	HPO
1277	COL1A1	C1394691	Bowel diverticula	0.2	0	0	HPO
1277	COL1A1	C1395674	Bowel diverticulosis	0.2	0	0	HPO
1277	COL1A1	C1619692	Nephrogenic Fibrosing Dermopathy	0.2	1	0	CTD_human
1277	COL1A1	C1833144	Slender, gracile long tubular bones	0.2	0	0	HPO
1277	COL1A1	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1277	COL1A1	C1833753	Biconcave flattened vertebrae	0.2	0	0	HPO
1277	COL1A1	C1833754	Femoral bowing present at birth, straightening with time	0.2	0	0	HPO
1277	COL1A1	C1833762	Soft calvaria	0.2	0	0	HPO
1277	COL1A1	C1834345	Periosteal thickening of long tubular bones	0.2	0	0	HPO
1277	COL1A1	C1835121	Premature osteoarthritis	0.2	0	0	HPO
1277	COL1A1	C1835884	Triangular face	0.2	0	0	HPO
1277	COL1A1	C1837081	Tibial bowing	0.2	0	0	HPO
1277	COL1A1	C1837658	Gross motor development delay	0.2	0	0	HPO
1277	COL1A1	C1844592	Soft skin	0.2	0	0	HPO
1277	COL1A1	C1844597	Molluscoid pseudotumors	0.2	0	0	HPO
1277	COL1A1	C1844704	Platyspondyly	0.2	0	0	HPO
1277	COL1A1	C1844820	Range of joint movement increased	0.2	0	0	HPO
1277	COL1A1	C1845112	Hyperkyphosis	0.2	0	0	HPO
1277	COL1A1	C1845878	Irregularly spaced teeth	0.2	0	0	HPO
1277	COL1A1	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
1277	COL1A1	C1850171	Short limb dwarfism recognizable at birth	0.2	0	0	HPO
1277	COL1A1	C1850178	Bowing of limbs due to multiple fractures	0.2	0	0	HPO
1277	COL1A1	C1851789	Poor wound healing	0.2	0	0	HPO
1277	COL1A1	C1851828	Cigarette-paper scars	0.2	0	0	HPO
1277	COL1A1	C1851833	Premature birth following premature rupture of fetal membranes	0.2	0	0	HPO
1277	COL1A1	C1851835	Narrow maxilla	0.2	0	0	HPO
1277	COL1A1	C1853171	Multiple fractures present at birth	0.2	0	0	HPO
1277	COL1A1	C1853242	Midface retrusion	0.2	0	0	HPO
1277	COL1A1	C1856087	Biconcave vertebral bodies	0.2	0	0	HPO
1277	COL1A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1277	COL1A1	C1858085	Malar flattening	0.2	0	0	HPO
1277	COL1A1	C1859443	Severe osteoporosis	0.2	0	0	HPO
1277	COL1A1	C1859461	Femoral bowing	0.2	0	0	HPO
1277	COL1A1	C1860834	Infantile muscular hypotonia	0.2	0	0	HPO
1277	COL1A1	C1863351	Calvarial hyperostosis	0.2	0	0	HPO
1277	COL1A1	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1277	COL1A1	C1970497	Crumpled long bones	0.2	0	0	HPO
1277	COL1A1	C2051831	Pectus excavatum	0.2	0	0	HPO
1277	COL1A1	C2673410	Small midface	0.2	0	0	HPO
1277	COL1A1	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
1277	COL1A1	C2973725	Pulmonary arterial hypertension	0.2	0	0	HPO
1277	COL1A1	C3150077	Short stature, mild	0.2	0	0	HPO
1277	COL1A1	C3203102	Idiopathic pulmonary arterial hypertension	0.2	0	0	HPO
1277	COL1A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1277	COL1A1	C3805574	Increased fracture rate	0.2	0	0	HPO
1277	COL1A1	C3806283	Frequent fractures	0.2	0	0	HPO
1277	COL1A1	C4020838	Relative short stature	0.2	0	0	HPO
1277	COL1A1	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1277	COL1A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1277	COL1A1	C4020878	Diffusely thickened skin	0.2	0	0	HPO
1277	COL1A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1277	COL1A1	C4021629	Absent ossification of calvaria	0.2	0	0	HPO
1277	COL1A1	C4021630	Broad long bones	0.2	0	0	HPO
1277	COL1A1	C4021797	Abnormality of the thorax	0.2	0	0	HPO
1277	COL1A1	C4025145	Cortical irregularity	0.2	0	0	HPO
1277	COL1A1	C4072820	Large bregma sutures	0.2	0	0	HPO
1277	COL1A1	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
1277	COL1A1	C4072822	Wide bregma sutures	0.2	0	0	HPO
1277	COL1A1	C4225429	Ehlers-Danlos syndrome classic type	0.2	2	0	UNIPROT
1277	COL1A1	C4280320	Hypotrophic midface	0.2	0	0	HPO
1277	COL1A1	C4280321	Decreased projection of midface	0.2	0	0	HPO
1277	COL1A1	C4280519	Increased ossification of calvarial bones	0.2	0	0	HPO
1277	COL1A1	C4280520	Enlargement of calvarial bones	0.2	0	0	HPO
1277	COL1A1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1278	COL1A2	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1278	COL1A2	C0003504	Aortic Valve Insufficiency	0.200274726784213	0	0	HPO
1278	COL1A2	C0006157	Breech Presentation	0.2	0	0	HPO
1278	COL1A2	C0011053	Deafness	0.2	0	0	HPO
1278	COL1A2	C0011436	Dentinogenesis Imperfecta	0.200274726784213	0	0	HPO
1278	COL1A2	C0013491	Ecchymosis	0.2	0	0	HPO
1278	COL1A2	C0016059	Fibrosis	0.2	1	0	CTD_human
1278	COL1A2	C0016202	Flatfoot	0.2	0	0	HPO
1278	COL1A2	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1278	COL1A2	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1278	COL1A2	C0018801	Heart failure	0.2	0	0	HPO
1278	COL1A2	C0018802	Congestive heart failure	0.2	0	0	HPO
1278	COL1A2	C0018824	Heart valve disease	0.2	1	0	CTD_human
1278	COL1A2	C0018834	Heartburn	0.2	0	0	HPO
1278	COL1A2	C0019270	Hernia	0.2	0	0	HPO
1278	COL1A2	C0019294	Hernia, Inguinal	0.200274726784213	0	0	HPO
1278	COL1A2	C0020542	Pulmonary Hypertension	0.2	0	0	HPO
1278	COL1A2	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1278	COL1A2	C0023890	Liver Cirrhosis	0.202732912464814	1	0	CTD_human
1278	COL1A2	C0023893	Liver Cirrhosis, Experimental	0.28	1	0	CTD_human
1278	COL1A2	C0023931	Lobstein's Disease	0.402747267842131	6	8	ORPHANET;UNIPROT
1278	COL1A2	C0024032	Low Birth Weights	0.2	0	0	HPO
1278	COL1A2	C0025990	Micrognathism	0.2	0	0	HPO
1278	COL1A2	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
1278	COL1A2	C0026267	Mitral Valve Prolapse Syndrome	0.2	0	0	HPO
1278	COL1A2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1278	COL1A2	C0029172	Oral Submucous Fibrosis	0.202956482091714	1	0	CTD_human
1278	COL1A2	C0029408	Degenerative polyarthritis	0.200274726784213	1	0	CTD_human
1278	COL1A2	C0029453	Osteopenia	0.200274726784213	0	0	HPO
1278	COL1A2	C0029456	Osteoporosis	0.204055389228567	0	0	CTD_human
1278	COL1A2	C0029899	Otosclerosis	0.200549453568426	0	0	HPO
1278	COL1A2	C0032209	Platybasia	0.2	0	0	HPO
1278	COL1A2	C0034088	Pulmonary Valve Insufficiency	0.2	0	0	HPO
1278	COL1A2	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1278	COL1A2	C0036421	Systemic Scleroderma	0.210085023103938	1	0	CTD_human
1278	COL1A2	C0037932	Curvature of spine	0.2	0	0	HPO
1278	COL1A2	C0086437	Joint laxity	0.200549453568426	0	0	HPO
1278	COL1A2	C0151526	Premature Birth	0.207221085569864	0	0	HPO
1278	COL1A2	C0151786	Muscle Weakness	0.2	0	0	HPO
1278	COL1A2	C0158713	Bilateral congenital dislocation of hip	0.2	0	0	HPO
1278	COL1A2	C0162154	Atrophic scar	0.2	0	0	HPO
1278	COL1A2	C0221354	Frontal bossing	0.2	0	0	HPO
1278	COL1A2	C0222716	Structure of wormian bone	0.2	0	0	HPO
1278	COL1A2	C0233315	Premature birth of newborn	0.2	0	0	HPO
1278	COL1A2	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
1278	COL1A2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1278	COL1A2	C0240538	Convex nasal ridge	0.2	0	0	HPO
1278	COL1A2	C0241074	Skin hyperelastic	0.2	0	0	HPO
1278	COL1A2	C0241178	Velvety skin	0.2	0	0	HPO
1278	COL1A2	C0264133	Acquired flat foot	0.2	0	0	HPO
1278	COL1A2	C0268345	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	0.402472541057918	0	0	CTD_human;ORPHANET
1278	COL1A2	C0268358	Osteogenesis imperfecta, dominant perinatal lethal	0.603021994626344	14	27	CTD_human;ORPHANET;UNIPROT
1278	COL1A2	C0268362	Osteogenesis imperfecta type III (disorder)	0.681648360705279	17	30	CTD_human;ORPHANET;UNIPROT
1278	COL1A2	C0268363	Osteogenesis imperfecta type IV (disorder)	0.60357144819477	11	21	CTD_human;ORPHANET;UNIPROT
1278	COL1A2	C0339789	Congenital deafness	0.2	0	0	HPO
1278	COL1A2	C0349588	Short stature	0.2	0	0	HPO
1278	COL1A2	C0409495	Protrusio acetabuli	0.2	0	0	HPO
1278	COL1A2	C0423757	Thin skin	0.2	0	0	HPO
1278	COL1A2	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1278	COL1A2	C0426824	Beading of ribs	0.2	0	0	HPO
1278	COL1A2	C0455988	Hydrops Fetalis, Non-Immune	0.2	0	0	HPO
1278	COL1A2	C0456132	Large fontanelle	0.2	0	0	HPO
1278	COL1A2	C0497552	Congenital neurologic anomalies	0.2	0	0	HPO
1278	COL1A2	C0542514	Blue sclera	0.2	0	0	HPO
1278	COL1A2	C0546964	Genu recurvatum	0.2	0	0	HPO
1278	COL1A2	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
1278	COL1A2	C0747078	Generalized osteopenia	0.2	0	0	HPO
1278	COL1A2	C0854107	Haemorrhage subcutaneous	0.2	0	0	HPO
1278	COL1A2	C1384666	hearing impairment	0.2	0	0	HPO
1278	COL1A2	C1390474	Increased susceptibility to fractures	0.2	0	0	HPO
1278	COL1A2	C1833144	Slender, gracile long tubular bones	0.2	0	0	HPO
1278	COL1A2	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1278	COL1A2	C1833753	Biconcave flattened vertebrae	0.2	0	0	HPO
1278	COL1A2	C1833754	Femoral bowing present at birth, straightening with time	0.2	0	0	HPO
1278	COL1A2	C1833762	Soft calvaria	0.2	0	0	HPO
1278	COL1A2	C1835121	Premature osteoarthritis	0.2	0	0	HPO
1278	COL1A2	C1835884	Triangular face	0.2	0	0	HPO
1278	COL1A2	C1837081	Tibial bowing	0.2	0	0	HPO
1278	COL1A2	C1837658	Gross motor development delay	0.2	0	0	HPO
1278	COL1A2	C1844592	Soft skin	0.2	0	0	HPO
1278	COL1A2	C1844704	Platyspondyly	0.2	0	0	HPO
1278	COL1A2	C1845112	Hyperkyphosis	0.2	0	0	HPO
1278	COL1A2	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
1278	COL1A2	C1850171	Short limb dwarfism recognizable at birth	0.2	0	0	HPO
1278	COL1A2	C1850178	Bowing of limbs due to multiple fractures	0.2	0	0	HPO
1278	COL1A2	C1851789	Poor wound healing	0.2	0	0	HPO
1278	COL1A2	C1853171	Multiple fractures present at birth	0.2	0	0	HPO
1278	COL1A2	C1853242	Midface retrusion	0.2	0	0	HPO
1278	COL1A2	C1856087	Biconcave vertebral bodies	0.2	0	0	HPO
1278	COL1A2	C1857034	Ehlers-Danlos syndrome, cardiac valvular form	0.4	1	4	CTD_human;ORPHANET
1278	COL1A2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1278	COL1A2	C1858085	Malar flattening	0.2	0	0	HPO
1278	COL1A2	C1859443	Severe osteoporosis	0.2	0	0	HPO
1278	COL1A2	C1860450	Calcaneovalgus deformity	0.2	0	0	HPO
1278	COL1A2	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1278	COL1A2	C1970497	Crumpled long bones	0.2	0	0	HPO
1278	COL1A2	C2051831	Pectus excavatum	0.2	0	0	HPO
1278	COL1A2	C2673410	Small midface	0.2	0	0	HPO
1278	COL1A2	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
1278	COL1A2	C2973725	Pulmonary arterial hypertension	0.2	0	0	HPO
1278	COL1A2	C3150077	Short stature, mild	0.2	0	0	HPO
1278	COL1A2	C3203102	Idiopathic pulmonary arterial hypertension	0.2	0	0	HPO
1278	COL1A2	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
1278	COL1A2	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1278	COL1A2	C3805574	Increased fracture rate	0.2	0	0	HPO
1278	COL1A2	C3806283	Frequent fractures	0.2	0	0	HPO
1278	COL1A2	C4020838	Relative short stature	0.2	0	0	HPO
1278	COL1A2	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1278	COL1A2	C4020855	Respiratory function loss	0.2	0	0	HPO
1278	COL1A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1278	COL1A2	C4021629	Absent ossification of calvaria	0.2	0	0	HPO
1278	COL1A2	C4021630	Broad long bones	0.2	0	0	HPO
1278	COL1A2	C4021797	Abnormality of the thorax	0.2	0	0	HPO
1278	COL1A2	C4024890	Excessive wrinkled skin	0.2	0	0	HPO
1278	COL1A2	C4072820	Large bregma sutures	0.2	0	0	HPO
1278	COL1A2	C4072821	Large, late-closing fontanelle	0.2	0	0	HPO
1278	COL1A2	C4072822	Wide bregma sutures	0.2	0	0	HPO
1278	COL1A2	C4280320	Hypotrophic midface	0.2	0	0	HPO
1278	COL1A2	C4280321	Decreased projection of midface	0.2	0	0	HPO
1278	COL1A2	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
127829	ARL8A	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
127833	SYT2	C0751884	Congenital Myasthenic Syndromes, Presynaptic	0.200274726784213	0	0	ORPHANET
127833	SYT2	C4015038	MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC	0.2	1	2	UNIPROT
127933	UHMK1	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
127933	UHMK1	C0036341	Schizophrenia	0.211653515897269	4	0	PSYGENET
128	ADH5	C0001973	Alcoholic Intoxication, Chronic	0.20777053913829	1	0	PSYGENET
1280	COL2A1	C0000731	Abdomen distended	0.2	0	0	HPO
1280	COL2A1	C0003706	Arachnodactyly	0.2	0	0	HPO
1280	COL2A1	C0003862	Arthralgia	0.2	0	0	HPO
1280	COL2A1	C0003864	Arthritis	0.200549453568426	2	0	CTD_human
1280	COL2A1	C0008479	Chondrosarcoma	0.200824180352639	1	0	CTD_human
1280	COL2A1	C0008925	Cleft Palate	0.40350593566014	1	0	CTD_human;HPO
1280	COL2A1	C0009081	Congenital clubfoot	0.2	0	0	HPO
1280	COL2A1	C0009917	Contracture	0.2	0	0	HPO
1280	COL2A1	C0009918	Contracture of joint	0.2	0	0	HPO
1280	COL2A1	C0011053	Deafness	0.2	0	0	HPO
1280	COL2A1	C0013336	Dwarfism	0.200824180352639	0	0	HPO
1280	COL2A1	C0013604	Edema	0.4	1	0	CTD_human;HPO
1280	COL2A1	C0014084	Enchondromatosis	0.2	0	0	HPO
1280	COL2A1	C0015300	Exophthalmos	0.2	0	0	HPO
1280	COL2A1	C0015814	Femur Head Necrosis	0.2	0	0	CTD_human
1280	COL2A1	C0016202	Flatfoot	0.2	0	0	HPO
1280	COL2A1	C0016506	Foot Deformities	0.2	0	0	HPO
1280	COL2A1	C0017601	Glaucoma	0.2	0	0	HPO
1280	COL2A1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1280	COL2A1	C0018777	Conductive hearing loss	0.2	0	0	HPO
1280	COL2A1	C0018784	Sensorineural Hearing Loss (disorder)	0.403007639249027	1	0	CTD_human;HPO
1280	COL2A1	C0018862	Heberden's node	0.2	0	0	HPO
1280	COL2A1	C0019288	Hernia, Femoral	0.2	0	0	HPO
1280	COL2A1	C0019294	Hernia, Inguinal	0.2	0	0	HPO
1280	COL2A1	C0019322	Umbilical hernia	0.2	0	0	HPO
1280	COL2A1	C0020224	Polyhydramnios	0.2	0	0	HPO
1280	COL2A1	C0020305	Hydrops Fetalis	0.200274726784213	0	0	HPO
1280	COL2A1	C0020507	Hyperplasia	0.2	1	0	CTD_human
1280	COL2A1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1280	COL2A1	C0021368	Inflammation	0.2	1	0	CTD_human
1280	COL2A1	C0022408	Arthropathy	0.200549453568426	0	0	HPO
1280	COL2A1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1280	COL2A1	C0023221	Leg Length Inequality	0.2	0	0	HPO
1280	COL2A1	C0023234	Legg-Calve-Perthes Disease	0.60433011601278	0	0	CTD_human;HPO;ORPHANET;UNIPROT
1280	COL2A1	C0024003	Lordosis	0.2	0	0	HPO
1280	COL2A1	C0025202	melanoma	0.2	1	0	CTD_human
1280	COL2A1	C0025990	Micrognathism	0.200274726784213	0	0	HPO
1280	COL2A1	C0025995	Micromelia	0.200274726784213	0	0	HPO
1280	COL2A1	C0026034	Microstomia	0.2	0	0	HPO
1280	COL2A1	C0026267	Mitral Valve Prolapse Syndrome	0.2	0	0	HPO
1280	COL2A1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1280	COL2A1	C0027092	Myopia	0.405363510615002	1	0	CTD_human;HPO
1280	COL2A1	C0029408	Degenerative polyarthritis	0.513304095961168	2	0	CTD_human;HPO
1280	COL2A1	C0029410	Osteoarthritis of hip	0.203557092817453	0	0	HPO
1280	COL2A1	C0029422	Osteochondrodysplasias	0.403007639249027	1	0	CTD_human;HPO
1280	COL2A1	C0029445	Bone necrosis	0.2	0	0	HPO
1280	COL2A1	C0031900	Pierre Robin Syndrome	0.200274726784213	0	0	HPO
1280	COL2A1	C0035305	Retinal Detachment	0.406513574909167	1	0	CTD_human;HPO
1280	COL2A1	C0035309	Retinal Diseases	0.2	0	0	HPO
1280	COL2A1	C0035313	Retinal Dysplasia	0.2	0	0	HPO
1280	COL2A1	C0037932	Curvature of spine	0.2	0	0	HPO
1280	COL2A1	C0038015	Spondyloepiphyseal Dysplasia	0.205494535684262	0	0	HPO
1280	COL2A1	C0039103	Synovitis	0.202732912464814	1	0	CTD_human
1280	COL2A1	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1280	COL2A1	C0041834	Erythema	0.2	1	0	CTD_human
1280	COL2A1	C0085581	Restrictive lung disease	0.2	0	0	HPO
1280	COL2A1	C0085660	Aseptic necrosis	0.2	0	0	HPO
1280	COL2A1	C0086543	Cataract	0.400274726784213	1	0	CTD_human;HPO
1280	COL2A1	C0149645	Cervical myelopathy	0.2	0	0	HPO
1280	COL2A1	C0155552	Hearing Loss, Mixed Conductive-Sensorineural	0.2	0	0	HPO
1280	COL2A1	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1280	COL2A1	C0162298	Joint stiffness	0.2	0	0	HPO
1280	COL2A1	C0206620	Lymphangioma, Cystic	0.2	0	0	HPO
1280	COL2A1	C0220685	Achondrogenesis type 2	0.681648360705279	9	6	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C0221354	Frontal bossing	0.2	0	0	HPO
1280	COL2A1	C0221357	Brachydactyly	0.200824180352639	0	0	HPO
1280	COL2A1	C0231712	Waddling gait	0.2	0	0	HPO
1280	COL2A1	C0234958	muscle degeneration	0.2	0	0	HPO
1280	COL2A1	C0239137	Coxa valga	0.2	0	0	HPO
1280	COL2A1	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
1280	COL2A1	C0239234	Low set ears	0.2	0	0	HPO
1280	COL2A1	C0239399	Short extremities	0.2	0	0	HPO
1280	COL2A1	C0239479	Round face	0.2	0	0	HPO
1280	COL2A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1280	COL2A1	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
1280	COL2A1	C0240543	Bulbous nose	0.2	0	0	HPO
1280	COL2A1	C0262361	abnormal growth	0.2	0	0	HPO
1280	COL2A1	C0262444	Dental abnormalities	0.2	0	0	HPO
1280	COL2A1	C0263870	Narrowing of intervertebral disc space	0.2	0	0	HPO
1280	COL2A1	C0264112	Wedging of vertebra	0.2	0	0	HPO
1280	COL2A1	C0264133	Acquired flat foot	0.2	0	0	HPO
1280	COL2A1	C0264142	Spade-like hand	0.2	0	0	HPO
1280	COL2A1	C0264172	Barrel chest	0.2	0	0	HPO
1280	COL2A1	C0265279	Kniest dysplasia	0.603296721410557	2	3	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C0265280	Spondylometaphyseal dysplasia, Kozlowski type	0.2	0	0	CTD_human
1280	COL2A1	C0265294	Pyle metaphyseal dysplasia	0.2	0	0	HPO
1280	COL2A1	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1280	COL2A1	C0265998	ANONYCHIA	0.2	0	0	HPO
1280	COL2A1	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1280	COL2A1	C0271055	Rhegmatogenous retinal detachment	0.200274726784213	0	0	HPO
1280	COL2A1	C0271215	Blindness, Legal	0.2	0	0	HPO
1280	COL2A1	C0333068	Flexion contracture	0.2	0	0	HPO
1280	COL2A1	C0339789	Congenital deafness	0.2	0	0	HPO
1280	COL2A1	C0344290	Vitreoretinal degeneration	0.200274726784213	0	0	HPO
1280	COL2A1	C0349588	Short stature	0.2	0	0	HPO
1280	COL2A1	C0376634	Craniofacial Abnormalities	0.2	2	0	CTD_human
1280	COL2A1	C0392476	Epiphyseal dysplasia	0.200274726784213	0	0	HPO
1280	COL2A1	C0409354	Flexion contracture of hip	0.2	0	0	HPO
1280	COL2A1	C0409959	Osteoarthritis, Knee	0.200274726784213	0	0	HPO
1280	COL2A1	C0410480	Avascular Necrosis of Femur Head	0.4	3	3	ORPHANET;UNIPROT
1280	COL2A1	C0410632	Schmorl's nodes	0.2	0	0	HPO
1280	COL2A1	C0426414	Small nose	0.2	0	0	HPO
1280	COL2A1	C0426789	Short thorax	0.2	0	0	HPO
1280	COL2A1	C0426790	Narrow thorax	0.2	0	0	HPO
1280	COL2A1	C0426817	Short ribs	0.2	0	0	HPO
1280	COL2A1	C0426818	Thin rib	0.2	0	0	HPO
1280	COL2A1	C0426891	Broad thumbs	0.2	0	0	HPO
1280	COL2A1	C0431890	Hypoplasia of thumb	0.2	0	0	HPO
1280	COL2A1	C0432163	Defect of vertebral segmentation	0.2	0	0	HPO
1280	COL2A1	C0432211	Spondyloepimetaphyseal disorder	0.201373633921065	0	0	HPO
1280	COL2A1	C0432221	Spondylometaphyseal dysplasia, 'corner fracture' type	0.2	0	0	ORPHANET
1280	COL2A1	C0432321	Epidermolysis bullosa, pretibial	0.2	0	0	HPO
1280	COL2A1	C0456909	Blind Vision	0.2	0	0	HPO
1280	COL2A1	C0476273	Respiratory distress	0.2	0	0	HPO
1280	COL2A1	C0520474	Aseptic Necrosis of Bone	0.2	0	0	HPO
1280	COL2A1	C0521525	Short neck	0.2	0	0	HPO
1280	COL2A1	C0521770	Asteroid hyalosis	0.2	0	0	HPO
1280	COL2A1	C0541764	Delayed bone age	0.2	0	0	HPO
1280	COL2A1	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1280	COL2A1	C0542428	Hypochondrogenesis	0.201923087489492	0	0	ORPHANET
1280	COL2A1	C0544755	Genu varum	0.2	0	0	HPO
1280	COL2A1	C0566888	Narrow sacrosciatic notch	0.2	0	0	HPO
1280	COL2A1	C0575081	Gait abnormality	0.2	0	0	HPO
1280	COL2A1	C0575158	Kyphoscoliosis deformity of spine	0.2	0	0	HPO
1280	COL2A1	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1280	COL2A1	C0595939	Stillbirth	0.2	0	0	HPO
1280	COL2A1	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1280	COL2A1	C0700208	Acquired scoliosis	0.2	0	0	HPO
1280	COL2A1	C0700635	Strudwick syndrome	0.600824180352639	2	5	CTD_human;HPO;ORPHANET;UNIPROT
1280	COL2A1	C0747085	Recurrent otitis media	0.2	0	0	HPO
1280	COL2A1	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1280	COL2A1	C0796173	Spondyloperipheral dysplasia short ulna	0.401373633921066	0	0	CTD_human;ORPHANET
1280	COL2A1	C0876973	Infectious disease of lung	0.2	0	0	HPO
1280	COL2A1	C0877165	Short phalanx of finger	0.2	0	0	HPO
1280	COL2A1	C0877326	Bone infarction	0.2	0	0	HPO
1280	COL2A1	C0878659	Short stature, disproportionate	0.2	0	0	HPO
1280	COL2A1	C0948187	Tracheomalacia	0.2	0	0	HPO
1280	COL2A1	C0993582	Arthritis, Experimental	0.2	7	0	CTD_human
1280	COL2A1	C1184919	Thoracic kyphosis	0.2	0	0	HPO
1280	COL2A1	C1184923	Lumbar lordosis	0.2	0	0	HPO
1280	COL2A1	C1262477	Weight decreased	0.2	1	0	CTD_human
1280	COL2A1	C1384666	hearing impairment	0.2	0	0	HPO
1280	COL2A1	C1442903	Exostoses	0.2	0	0	HPO
1280	COL2A1	C1510497	Lens Opacities	0.2	0	0	HPO
1280	COL2A1	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1280	COL2A1	C1834118	Potato nose	0.2	0	0	HPO
1280	COL2A1	C1834953	Lumbar kyphoscoliosis	0.2	0	0	HPO
1280	COL2A1	C1834954	Coronal cleft vertebrae	0.2	0	0	HPO
1280	COL2A1	C1834961	Flattened, squared-off epiphyses of tubular bones	0.2	0	0	HPO
1280	COL2A1	C1835121	Premature osteoarthritis	0.200549453568426	0	0	HPO
1280	COL2A1	C1835437	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	0.680824180352639	3	4	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C1835442	Decreased cranial base ossification	0.2	0	0	HPO
1280	COL2A1	C1835444	Disc-like vertebral bodies	0.2	0	0	HPO
1280	COL2A1	C1835446	Severe limb shortening	0.2	0	0	HPO
1280	COL2A1	C1836080	Stickler Syndrome, Type I, Nonsyndromic Ocular	0.68	4	7	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C1836184	Short femoral neck	0.2	0	0	HPO
1280	COL2A1	C1836195	Hypoplastic toes	0.2	0	0	HPO
1280	COL2A1	C1836308	Generalized joint laxity	0.2	0	0	HPO
1280	COL2A1	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1280	COL2A1	C1836674	Short distal phalanx (5th finger)	0.2	0	0	HPO
1280	COL2A1	C1836683	Czech dysplasia, metatarsal type	0.400824180352639	4	1	ORPHANET;UNIPROT
1280	COL2A1	C1836688	Narrow iliac wings	0.2	0	0	HPO
1280	COL2A1	C1836940	Excess nuchal skin	0.2	0	0	HPO
1280	COL2A1	C1836996	Marfanoid body habitus	0.2	0	0	HPO
1280	COL2A1	C1837082	Metaphyseal cupping	0.2	0	0	HPO
1280	COL2A1	C1837084	Short metacarpal	0.2	0	0	HPO
1280	COL2A1	C1837260	Prominent forehead	0.2	0	0	HPO
1280	COL2A1	C1837485	Flat acetabular roof	0.2	0	0	HPO
1280	COL2A1	C1837760	Prominent eyes	0.2	0	0	HPO
1280	COL2A1	C1838662	Metaphyseal irregularity	0.2	0	0	HPO
1280	COL2A1	C1839254	Small capital femoral epiphyses	0.2	0	0	HPO
1280	COL2A1	C1839829	Short distal phalanges	0.2	0	0	HPO
1280	COL2A1	C1840077	Anteverted nostril	0.2	0	0	HPO
1280	COL2A1	C1840452	Hyaloideoretinal degeneration of Wagner	0.201648360705279	1	0	CTD_human
1280	COL2A1	C1840535	Carpal bone anomalies	0.2	0	0	HPO
1280	COL2A1	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1280	COL2A1	C1842155	Flat proximal femoral epiphyses	0.2	0	0	HPO
1280	COL2A1	C1843108	Short hands	0.2	0	0	HPO
1280	COL2A1	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1280	COL2A1	C1844704	Platyspondyly	0.2	0	0	HPO
1280	COL2A1	C1845112	Hyperkyphosis	0.2	0	0	HPO
1280	COL2A1	C1845847	Coarse facial features	0.2	0	0	HPO
1280	COL2A1	C1846011	'Pugilistic facies'	0.2	0	0	HPO
1280	COL2A1	C1846154	Anterior rib cupping	0.2	0	0	HPO
1280	COL2A1	C1846434	Hypoplastic scapulae	0.2	0	0	HPO
1280	COL2A1	C1846435	Short-trunked dwarfism	0.2	0	0	HPO
1280	COL2A1	C1846439	ODONTOID HYPOPLASIA	0.2	0	0	HPO
1280	COL2A1	C1846797	Short stature, severe disproportionate	0.2	0	0	HPO
1280	COL2A1	C1848446	C1-C2 subluxation	0.2	0	0	HPO
1280	COL2A1	C1848488	Pierre Robin syndrome with fetal chondrodysplasia	0.200274726784213	0	0	ORPHANET
1280	COL2A1	C1848490	Protruding eyes	0.2	0	0	HPO
1280	COL2A1	C1848673	Hypoplastic feet	0.2	0	0	HPO
1280	COL2A1	C1849020	Short metatarsal	0.2	0	0	HPO
1280	COL2A1	C1849089	Broad forehead	0.2	0	0	HPO
1280	COL2A1	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
1280	COL2A1	C1849955	Limited elbow movement	0.2	0	0	HPO
1280	COL2A1	C1850135	Splayed metaphyses	0.2	0	0	HPO
1280	COL2A1	C1850171	Short limb dwarfism recognizable at birth	0.2	0	0	HPO
1280	COL2A1	C1850293	Severe platyspondyly	0.2	0	0	HPO
1280	COL2A1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1280	COL2A1	C1850658	Irregular femoral epiphyses	0.2	0	0	HPO
1280	COL2A1	C1851536	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	0.6	2	1	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C1851542	Limited hip movement	0.2	0	0	HPO
1280	COL2A1	C1853241	Flat face	0.2	0	0	HPO
1280	COL2A1	C1853242	Midface retrusion	0.2	0	0	HPO
1280	COL2A1	C1854114	Short nose	0.2	0	0	HPO
1280	COL2A1	C1854301	Motor delay	0.2	0	0	HPO
1280	COL2A1	C1854912	Short tubular bones	0.2	0	0	HPO
1280	COL2A1	C1854928	Protuberant abdomen	0.2	0	0	HPO
1280	COL2A1	C1855310	Megaepiphyseal dwarfism	0.200274726784213	1	0	CTD_human
1280	COL2A1	C1855665	Ovoid vertebral bodies	0.2	0	0	HPO
1280	COL2A1	C1855751	Bulbous nasal tip	0.2	0	0	HPO
1280	COL2A1	C1856468	Round, full face	0.2	0	0	HPO
1280	COL2A1	C1856599	Beaked vertebral bodies	0.2	0	0	HPO
1280	COL2A1	C1856912	Disproportionately short middle phalanges	0.2	0	0	HPO
1280	COL2A1	C1857101	Anisospondyly	0.2	0	0	HPO
1280	COL2A1	C1857108	Decreased joint mobility	0.2	0	0	HPO
1280	COL2A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1280	COL2A1	C1857527	Flat epiphyses	0.2	0	0	HPO
1280	COL2A1	C1858079	Osteoarthritis with Mild Chondrodysplasia	0.6	5	1	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C1858085	Malar flattening	0.2	0	0	HPO
1280	COL2A1	C1859111	Enlarged joints	0.2	0	0	HPO
1280	COL2A1	C1859115	Prominent interphalangeal joints	0.2	0	0	HPO
1280	COL2A1	C1859116	Large tarsal bones	0.2	0	0	HPO
1280	COL2A1	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1280	COL2A1	C1859447	Hypoplastic ischia	0.2	0	0	HPO
1280	COL2A1	C1859480	Cone-shaped epiphyses of phalanges	0.2	0	0	HPO
1280	COL2A1	C1860191	Absent vertebral body mineralization	0.2	0	0	HPO
1280	COL2A1	C1860493	Sternal anomalies	0.2	0	0	HPO
1280	COL2A1	C1860614	ULNAR HYPOPLASIA	0.2	0	0	HPO
1280	COL2A1	C1861218	Hypoplastic ilia	0.2	0	0	HPO
1280	COL2A1	C1861528	Delayed mineralization of pubic bone	0.2	0	0	HPO
1280	COL2A1	C1862102	BRACHYDACTYLY, TYPE E1	0.2	0	0	HPO
1280	COL2A1	C1862132	Short ulnae	0.2	0	0	HPO
1280	COL2A1	C1862425	Prominent globes	0.2	0	0	HPO
1280	COL2A1	C1863739	Narrow femoral necks	0.2	0	0	HPO
1280	COL2A1	C1865014	Long philtrum	0.2	0	0	HPO
1280	COL2A1	C1865027	Hypoplastic iliac wing	0.2	0	0	HPO
1280	COL2A1	C1865030	Hypoplastic pubic bone	0.2	0	0	HPO
1280	COL2A1	C1865037	Cone-shaped epiphyses	0.2	0	0	HPO
1280	COL2A1	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1280	COL2A1	C1866688	Spondylometaphyseal dysplasia, Algerian type	0.2	0	0	ORPHANET
1280	COL2A1	C1866710	Delayed pubic bone ossification	0.2	0	0	HPO
1280	COL2A1	C1866730	Rhizomelia	0.2	0	0	HPO
1280	COL2A1	C1867103	Limited elbow extension	0.2	0	0	HPO
1280	COL2A1	C1867446	Bulging forehead	0.2	0	0	HPO
1280	COL2A1	C1968611	Proximal club shaped femurs	0.2	0	0	HPO
1280	COL2A1	C2020284	Stickler syndrome, type 1	0.614560519563294	2	37	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C2051831	Pectus excavatum	0.2	0	0	HPO
1280	COL2A1	C2673410	Small midface	0.2	0	0	HPO
1280	COL2A1	C2745959	Spondyloepiphyseal dysplasia, congenita	0.690714344584311	7	6	CTD_human;ORPHANET;UNIPROT
1280	COL2A1	C2749582	Dumbbell-shaped long bones	0.2	0	0	HPO
1280	COL2A1	C2981150	Uranostaphyloschisis	0.201098907136852	0	0	HPO
1280	COL2A1	C3149908	Dwarfism, short-trunk, identifiable at birth	0.2	0	0	HPO
1280	COL2A1	C3150077	Short stature, mild	0.2	0	0	HPO
1280	COL2A1	C3277226	Restrictive ventilatory defect	0.2	0	0	HPO
1280	COL2A1	C3536734	Hypoplastic pelvis	0.2	0	0	HPO
1280	COL2A1	C3549698	Coxa valga deformity	0.2	0	0	HPO
1280	COL2A1	C3549703	Retinal thinning	0.2	0	0	HPO
1280	COL2A1	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1280	COL2A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1280	COL2A1	C3805574	Increased fracture rate	0.2	0	0	HPO
1280	COL2A1	C3806283	Frequent fractures	0.2	0	0	HPO
1280	COL2A1	C3806510	Horizontal ribs	0.2	0	0	HPO
1280	COL2A1	C3808270	Acetabular spurs	0.2	0	0	HPO
1280	COL2A1	C3887524	Skin Erosion	0.2	0	0	HPO
1280	COL2A1	C4020803	Abnormal type II collagen	0.200274726784213	0	0	HPO
1280	COL2A1	C4020804	Abnormal hyaline collagen	0.2	0	0	HPO
1280	COL2A1	C4020838	Relative short stature	0.2	0	0	HPO
1280	COL2A1	C4020844	Bullet vertebral body	0.2	0	0	HPO
1280	COL2A1	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1280	COL2A1	C4020874	No development of motor milestones	0.2	0	0	HPO
1280	COL2A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1280	COL2A1	C4020907	Metaphyseal dappling	0.2	0	0	HPO
1280	COL2A1	C4020953	Abnormality of vertebral epiphysis morphology	0.2	0	0	HPO
1280	COL2A1	C4020962	Enlarged thorax	0.2	0	0	HPO
1280	COL2A1	C4021259	Limitation of knee mobility	0.2	0	0	HPO
1280	COL2A1	C4021438	Short distal phalanx of the 2nd finger	0.2	0	0	HPO
1280	COL2A1	C4021499	Short distal phalanx of the 4th finger	0.2	0	0	HPO
1280	COL2A1	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1280	COL2A1	C4021626	Lethal skeletal dysplasia	0.200274726784213	0	0	HPO
1280	COL2A1	C4021630	Broad long bones	0.2	0	0	HPO
1280	COL2A1	C4021664	Abnormality of the abdominal wall	0.2	0	0	HPO
1280	COL2A1	C4021681	Short distal phalanx of the 3rd finger	0.2	0	0	HPO
1280	COL2A1	C4021744	Abnormality of the wrist	0.2	0	0	HPO
1280	COL2A1	C4021847	Abnormal cartilage collagen	0.2	0	0	HPO
1280	COL2A1	C4021906	Splayed epiphyses	0.2	0	0	HPO
1280	COL2A1	C4021973	Cartilage destruction	0.2	0	0	HPO
1280	COL2A1	C4024728	Delayed calcaneal ossification	0.2	0	0	HPO
1280	COL2A1	C4024996	Aplasia/Hypoplasia of the lungs	0.2	0	0	HPO
1280	COL2A1	C4025089	Shortening of all proximal phalanges of the fingers	0.2	0	0	HPO
1280	COL2A1	C4025121	Metaphyseal enchondromatosis	0.2	0	0	HPO
1280	COL2A1	C4025254	Absent styloid process of ulna	0.2	0	0	HPO
1280	COL2A1	C4025261	Aplasia/Hypoplasia of the capital femoral epiphysis	0.2	0	0	HPO
1280	COL2A1	C4025356	Abnormality of the vitreous humor	0.2	0	0	HPO
1280	COL2A1	C4025424	Abnormality of ulnar metaphysis	0.2	0	0	HPO
1280	COL2A1	C4025628	Abnormal enchondral ossification	0.2	0	0	HPO
1280	COL2A1	C4025664	Abnormality of the fibula	0.2	0	0	HPO
1280	COL2A1	C4025795	Short tubular bones of the hand	0.2	0	0	HPO
1280	COL2A1	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1280	COL2A1	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
1280	COL2A1	C4082243	Maxillary retrognathia	0.2	0	0	HPO
1280	COL2A1	C4083076	Increased head circumference	0.2	0	0	HPO
1280	COL2A1	C4225273	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	0.400274726784213	1	1	ORPHANET;UNIPROT
1280	COL2A1	C4255213	Increased size of skull	0.2	0	0	HPO
1280	COL2A1	C4280320	Hypotrophic midface	0.2	0	0	HPO
1280	COL2A1	C4280321	Decreased projection of midface	0.2	0	0	HPO
1280	COL2A1	C4280411	Delayed maturation fo pubic bone	0.2	0	0	HPO
1280	COL2A1	C4280414	Delayed heel bone maturation	0.2	0	0	HPO
1280	COL2A1	C4280495	Concave bridge of nose	0.2	0	0	HPO
1280	COL2A1	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
1280	COL2A1	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1280	COL2A1	C4280567	Abnormal skeletal development	0.2	0	0	HPO
1280	COL2A1	C4280607	Small wings of the pelvic girdle	0.2	0	0	HPO
1280	COL2A1	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
1280	COL2A1	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
1280	COL2A1	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
1280	COL2A1	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
1280	COL2A1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1280	COL2A1	C4280663	Increased size of cranium	0.2	0	0	HPO
1280	COL2A1	C4280664	Big calvaria	0.2	0	0	HPO
1281	COL3A1	C0002170	Alopecia	0.2	0	0	HPO
1281	COL3A1	C0002949	Aneurysm, Dissecting	0.200549453568426	0	0	HPO
1281	COL3A1	C0003504	Aortic Valve Insufficiency	0.2	1	0	CTD_human
1281	COL3A1	C0009081	Congenital clubfoot	0.2	0	0	HPO
1281	COL3A1	C0010417	Cryptorchidism	0.2	0	0	HPO
1281	COL3A1	C0011334	Dental caries	0.2	0	0	HPO
1281	COL3A1	C0013491	Ecchymosis	0.2	0	0	HPO
1281	COL3A1	C0013720	Ehlers-Danlos Syndrome	0.21453180880866	0	0	CTD_human
1281	COL3A1	C0015300	Exophthalmos	0.2	0	0	HPO
1281	COL3A1	C0015695	Fatty Liver	0.2	1	0	CTD_human
1281	COL3A1	C0016059	Fibrosis	0.2	1	0	CTD_human
1281	COL3A1	C0017563	Gingival Diseases	0.2	0	0	HPO
1281	COL3A1	C0017601	Glaucoma	0.2	0	0	HPO
1281	COL3A1	C0019079	Hemoptysis	0.2	0	0	HPO
1281	COL3A1	C0019294	Hernia, Inguinal	0.200549453568426	0	0	HPO
1281	COL3A1	C0020443	Hypercholesterolemia	0.2	1	0	CTD_human
1281	COL3A1	C0020456	Hyperglycemia	0.200274726784213	1	0	CTD_human
1281	COL3A1	C0020459	Hyperinsulinism	0.200274726784213	1	0	CTD_human
1281	COL3A1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1281	COL3A1	C0020538	Hypertensive disease	0.2	1	0	CTD_human
1281	COL3A1	C0020621	Hypokalemia	0.2	0	0	HPO
1281	COL3A1	C0022548	Keloid	0.2	1	0	CTD_human
1281	COL3A1	C0022578	Keratoconus	0.2	0	0	HPO
1281	COL3A1	C0023890	Liver Cirrhosis	0.202681755307501	5	0	CTD_human
1281	COL3A1	C0023891	Liver Cirrhosis, Alcoholic	0.2	1	0	CTD_human
1281	COL3A1	C0023893	Liver Cirrhosis, Experimental	0.2	2	0	CTD_human
1281	COL3A1	C0023895	Liver diseases	0.200274726784213	1	0	CTD_human
1281	COL3A1	C0025362	Mental Retardation	0.2	0	0	HPO
1281	COL3A1	C0025990	Micrognathism	0.2	0	0	HPO
1281	COL3A1	C0026267	Mitral Valve Prolapse Syndrome	0.205689394556528	0	0	HPO
1281	COL3A1	C0027962	Melanocytic nevus	0.2	0	0	HPO
1281	COL3A1	C0029408	Degenerative polyarthritis	0.2	0	0	HPO
1281	COL3A1	C0031090	Periodontal Diseases	0.2	0	0	HPO
1281	COL3A1	C0031099	Periodontitis	0.2	0	0	HPO
1281	COL3A1	C0032326	Pneumothorax	0.2	0	0	HPO
1281	COL3A1	C0034069	Pulmonary Fibrosis	0.200274726784213	1	0	CTD_human
1281	COL3A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1281	COL3A1	C0036341	Schizophrenia	0.2	1	0	CTD_human
1281	COL3A1	C0037932	Curvature of spine	0.2	0	0	HPO
1281	COL3A1	C0041956	Ureteral obstruction	0.2	1	0	CTD_human
1281	COL3A1	C0042140	Uterine Prolapse	0.207221085569864	0	0	HPO
1281	COL3A1	C0042345	Varicosity	0.2	0	0	HPO
1281	COL3A1	C0086437	Joint laxity	0.2	0	0	HPO
1281	COL3A1	C0149721	Left Ventricular Hypertrophy	0.2	1	0	CTD_human
1281	COL3A1	C0149781	Spontaneous pneumothorax	0.2	0	0	HPO
1281	COL3A1	C0151526	Premature Birth	0.209628114093152	0	0	HPO
1281	COL3A1	C0152438	Sprengel deformity	0.2	0	0	HPO
1281	COL3A1	C0152459	Linear atrophy	0.2	0	0	HPO
1281	COL3A1	C0156273	Bladder Diverticulum	0.2	0	0	HPO
1281	COL3A1	C0232513	Premature tooth loss	0.2	0	0	HPO
1281	COL3A1	C0233315	Premature birth of newborn	0.2	0	0	HPO
1281	COL3A1	C0238288	Muscular Dystrophy, Facioscapulohumeral	0.2	1	0	CTD_human
1281	COL3A1	C0238590	Acrogeria	0.200549453568426	0	0	ORPHANET
1281	COL3A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1281	COL3A1	C0240538	Convex nasal ridge	0.2	0	0	HPO
1281	COL3A1	C0241074	Skin hyperelastic	0.2	0	0	HPO
1281	COL3A1	C0241178	Velvety skin	0.2	0	0	HPO
1281	COL3A1	C0241181	Fragile skin	0.2	0	0	HPO
1281	COL3A1	C0268337	Ehlers-Danlos syndrome, type 3 (disorder)	0.4	1	2	CTD_human;UNIPROT
1281	COL3A1	C0268338	Ehlers-Danlos Syndrome, Type IV	0.493121373107599	23	344	ORPHANET;UNIPROT
1281	COL3A1	C0332573	Macule	0.2	0	0	HPO
1281	COL3A1	C0338656	Impaired cognition	0.2	0	0	HPO
1281	COL3A1	C0340643	Dissection of aorta	0.2	0	0	HPO
1281	COL3A1	C0349588	Short stature	0.2	0	0	HPO
1281	COL3A1	C0399385	Early tooth exfoliation	0.2	0	0	HPO
1281	COL3A1	C0406584	Acrogeria, gottron type	0.2	0	0	ORPHANET
1281	COL3A1	C0423113	Telecanthus	0.2	0	0	HPO
1281	COL3A1	C0423757	Thin skin	0.2	0	0	HPO
1281	COL3A1	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1281	COL3A1	C0423867	Fine hair	0.2	0	0	HPO
1281	COL3A1	C0423903	Low intelligence	0.2	0	0	HPO
1281	COL3A1	C0553980	Endomyocardial Fibrosis	0.2	1	0	CTD_human
1281	COL3A1	C0557874	Global developmental delay	0.2	0	0	HPO
1281	COL3A1	C0574769	Loss of scalp hair	0.2	0	0	HPO
1281	COL3A1	C0575802	Small hand	0.2	0	0	HPO
1281	COL3A1	C0578038	Thin lips	0.2	0	0	HPO
1281	COL3A1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1281	COL3A1	C0683322	Mental impairment	0.2	0	0	HPO
1281	COL3A1	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
1281	COL3A1	C0751003	Brain Aneurysm	0.2	0	0	HPO
1281	COL3A1	C0917816	Mental deficiency	0.2	0	0	HPO
1281	COL3A1	C0917990	Acro-Osteolysis	0.2	0	0	HPO
1281	COL3A1	C1280433	Lipoatrophy	0.2	0	0	HPO
1281	COL3A1	C1290398	Cerebral arterial aneurysm	0.2	0	0	HPO
1281	COL3A1	C1305420	Prominent ear	0.2	0	0	HPO
1281	COL3A1	C1390214	Internal haemorrhage	0.2	0	0	HPO
1281	COL3A1	C1836646	Translucent skin	0.2	0	0	HPO
1281	COL3A1	C1837760	Prominent eyes	0.2	0	0	HPO
1281	COL3A1	C1843367	Poor school performance	0.2	0	0	HPO
1281	COL3A1	C1844592	Soft skin	0.2	0	0	HPO
1281	COL3A1	C1844597	Molluscoid pseudotumors	0.2	0	0	HPO
1281	COL3A1	C1848490	Protruding eyes	0.2	0	0	HPO
1281	COL3A1	C1848673	Hypoplastic feet	0.2	0	0	HPO
1281	COL3A1	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
1281	COL3A1	C1849364	Absent earlobe	0.2	0	0	HPO
1281	COL3A1	C1850535	Absent scalp hair	0.2	0	0	HPO
1281	COL3A1	C1851792	Aplasia/Hypoplasia of the earlobes	0.2	0	0	HPO
1281	COL3A1	C1851808	Premature delivery because of cervical insufficiency or membrane fragility	0.2	0	0	HPO
1281	COL3A1	C1851811	Hypermobility of distal interphalangeal joints	0.2	0	0	HPO
1281	COL3A1	C1851828	Cigarette-paper scars	0.2	0	0	HPO
1281	COL3A1	C1853241	Flat face	0.2	0	0	HPO
1281	COL3A1	C1853365	AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	0.4	2	2	ORPHANET;UNIPROT
1281	COL3A1	C1855285	Protruding ears	0.2	0	0	HPO
1281	COL3A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1281	COL3A1	C1857693	Arteriovenous fistulas of celiac and mesenteric vessels	0.2	0	0	HPO
1281	COL3A1	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
1281	COL3A1	C1862425	Prominent globes	0.2	0	0	HPO
1281	COL3A1	C1862932	ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)	0.2	0	0	ORPHANET
1281	COL3A1	C1864897	Cognitive delay	0.2	0	0	HPO
1281	COL3A1	C2051831	Pectus excavatum	0.2	0	0	HPO
1281	COL3A1	C2266639	Absence of eyebrows	0.2	0	0	HPO
1281	COL3A1	C2675111	Abnormal eyelashes	0.2	0	0	HPO
1281	COL3A1	C3152231	Gastrointestinal infarctions	0.2	0	0	HPO
1281	COL3A1	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
1281	COL3A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1281	COL3A1	C3714756	Intellectual Disability	0.2	0	0	HPO
1281	COL3A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1281	COL3A1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1281	COL3A1	C4020876	Dull intelligence	0.2	0	0	HPO
1281	COL3A1	C4021821	Abnormality of the urinary system	0.2	0	0	HPO
1281	COL3A1	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
1281	COL3A1	C4021971	Peripheral arteriovenous fistula	0.2	0	0	HPO
1281	COL3A1	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
1281	COL3A1	C4024890	Excessive wrinkled skin	0.2	0	0	HPO
1281	COL3A1	C4025744	Foot acroosteolysis	0.2	0	0	HPO
1281	COL3A1	C4025881	Abnormality of oral frenula	0.2	0	0	HPO
1281	COL3A1	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1281	COL3A1	C4280269	Noncancerous mole	0.2	0	0	HPO
1281	COL3A1	C4280623	Rotting teeth	0.2	0	0	HPO
128178	EDARADD	C0020608	Hypodontia	0.200549453568426	0	0	ORPHANET
128178	EDARADD	C0265331	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	0.2	0	0	ORPHANET
128178	EDARADD	C0406702	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	0.400274726784213	0	0	CTD_human;ORPHANET
128178	EDARADD	C1720965	Ectodermal Dysplasia 3, Anhidrotic	0.2	0	0	CTD_human
128178	EDARADD	C3539920	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	0.202197814273705	2	2	UNIPROT
128178	EDARADD	C3541517	ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	0.202197814273705	2	1	UNIPROT
128178	EDARADD	C4082304	Oligodontia	0.200549453568426	0	0	ORPHANET
1282	COL4A1	C0002878	Anemia, Hemolytic	0.200274726784213	0	0	HPO
1282	COL4A1	C0011881	Diabetic Nephropathy	0.200274726784213	1	0	CTD_human
1282	COL4A1	C0014544	Epilepsy	0.200274726784213	0	0	HPO
1282	COL4A1	C0015310	Exotropia	0.2	0	0	HPO
1282	COL4A1	C0017668	Focal glomerulosclerosis	0.2	2	0	CTD_human
1282	COL4A1	C0018965	Hematuria	0.202732912464814	0	0	HPO
1282	COL4A1	C0018989	Hemiparesis	0.2	0	0	HPO
1282	COL4A1	C0018991	Hemiplegia	0.2	0	0	HPO
1282	COL4A1	C0020255	Hydrocephalus	0.2	0	0	HPO
1282	COL4A1	C0022658	Kidney Diseases	0.200824180352639	0	0	HPO
1282	COL4A1	C0022679	Cystic kidney	0.2	0	0	HPO
1282	COL4A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1282	COL4A1	C0025362	Mental Retardation	0.2	0	0	HPO
1282	COL4A1	C0026821	Muscle Cramp	0.204655999954305	0	0	HPO
1282	COL4A1	C0026838	Muscle Spasticity	0.2	0	0	HPO
1282	COL4A1	C0027726	Nephrotic Syndrome	0.2	1	0	CTD_human
1282	COL4A1	C0034935	Babinski Reflex	0.2	0	0	HPO
1282	COL4A1	C0035078	Kidney Failure	0.2	0	0	HPO
1282	COL4A1	C0035317	Retinal Hemorrhage	0.2	0	0	HPO
1282	COL4A1	C0036454	Scotoma	0.2	0	0	HPO
1282	COL4A1	C0036572	Seizures	0.2	0	0	HPO
1282	COL4A1	C0038379	Strabismus	0.2	0	0	HPO
1282	COL4A1	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1282	COL4A1	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
1282	COL4A1	C0151891	Retinal depigmentation	0.2	0	0	HPO
1282	COL4A1	C0154723	Migraine with Aura	0.2	0	0	HPO
1282	COL4A1	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1282	COL4A1	C0262404	Cerebellar degeneration	0.2	0	0	HPO
1282	COL4A1	C0265221	Walker-Warburg congenital muscular dystrophy	0.280549453568426	0	0	ORPHANET
1282	COL4A1	C0266484	Schizencephaly	0.600549453568426	1	1	HPO;ORPHANET;UNIPROT
1282	COL4A1	C0270612	Leukoencephalopathies	0.201373633921065	0	0	HPO
1282	COL4A1	C0270790	Quadriparesis	0.2	0	0	HPO
1282	COL4A1	C0344232	Blurred vision	0.2	0	0	HPO
1282	COL4A1	C0344233	Retinal blind spot	0.2	0	0	HPO
1282	COL4A1	C0423903	Low intelligence	0.2	0	0	HPO
1282	COL4A1	C0426970	Spastic Quadriplegia	0.2	0	0	HPO
1282	COL4A1	C0428974	Supraventricular arrhythmia	0.2	0	0	HPO
1282	COL4A1	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1282	COL4A1	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
1282	COL4A1	C0751003	Brain Aneurysm	0.2	0	0	HPO
1282	COL4A1	C0751093	Dystonia, Limb	0.2	0	0	HPO
1282	COL4A1	C0917816	Mental deficiency	0.2	0	0	HPO
1282	COL4A1	C0948008	Ischemic stroke	0.200274726784213	0	0	HPO
1282	COL4A1	C1290398	Cerebral arterial aneurysm	0.200274726784213	0	0	HPO
1282	COL4A1	C1408258	Kidney damage	0.2	0	0	HPO
1282	COL4A1	C1565489	Renal Insufficiency	0.2	0	0	HPO
1282	COL4A1	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1282	COL4A1	C1843367	Poor school performance	0.2	0	0	HPO
1282	COL4A1	C1843512	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	0.200549453568426	0	0	CTD_human
1282	COL4A1	C1843517	Retinal arteriolar tortuosity	0.2	0	0	HPO
1282	COL4A1	C1861403	Variable expressivity	0.2	0	0	HPO
1282	COL4A1	C1861866	Hypoplasia or absence of the corpus callosum	0.2	0	0	HPO
1282	COL4A1	C1864897	Cognitive delay	0.2	0	0	HPO
1282	COL4A1	C1866862	Highly variable severity	0.2	0	0	HPO
1282	COL4A1	C1867327	RETINAL ARTERIES, TORTUOSITY OF	0.4	0	0	ORPHANET;UNIPROT
1282	COL4A1	C1867983	PORENCEPHALY, FAMILIAL	0.481373633921066	3	6	ORPHANET;UNIPROT
1282	COL4A1	C2673195	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	0.600549453568426	3	6	CTD_human;ORPHANET;UNIPROT
1282	COL4A1	C3281105	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO	0.2	1	0	UNIPROT
1282	COL4A1	C3665386	Abnormal vision	0.2	0	0	HPO
1282	COL4A1	C3714756	Intellectual Disability	0.2	0	0	HPO
1282	COL4A1	C3887499	Renal cyst	0.2	0	0	HPO
1282	COL4A1	C3887875	Visual field defects	0.2	0	0	HPO
1282	COL4A1	C4013035	BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES	0.48	8	0	ORPHANET;UNIPROT
1282	COL4A1	C4020873	Infratentorial atrophy	0.2	0	0	HPO
1282	COL4A1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1282	COL4A1	C4020876	Dull intelligence	0.2	0	0	HPO
1282	COL4A1	C4024975	Posterior leukoencephalopathy	0.2	0	0	HPO
1282	COL4A1	C4082173	Porencephaly	0.404945082115836	0	0	CTD_human;HPO
128338	DRAM2	C0035334	Retinitis Pigmentosa	0.2	0	0	ORPHANET
1284	COL4A2	C0014544	Epilepsy	0.2	0	0	HPO
1284	COL4A2	C0018991	Hemiplegia	0.2	0	0	HPO
1284	COL4A2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1284	COL4A2	C0026838	Muscle Spasticity	0.2	0	0	HPO
1284	COL4A2	C0027726	Nephrotic Syndrome	0.2	1	0	CTD_human
1284	COL4A2	C0036572	Seizures	0.2	0	0	HPO
1284	COL4A2	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
1284	COL4A2	C0151699	Intracranial Hemorrhages	0.2	0	0	HPO
1284	COL4A2	C0557874	Global developmental delay	0.2	0	0	HPO
1284	COL4A2	C1861403	Variable expressivity	0.2	0	0	HPO
1284	COL4A2	C1864897	Cognitive delay	0.2	0	0	HPO
1284	COL4A2	C1866862	Highly variable severity	0.2	0	0	HPO
1284	COL4A2	C1867983	PORENCEPHALY, FAMILIAL	0.200274726784213	0	0	ORPHANET
1284	COL4A2	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1284	COL4A2	C3280970	PORENCEPHALY 2	0.2	1	2	UNIPROT
1284	COL4A2	C4020875	Mental and motor retardation	0.2	0	0	HPO
1284	COL4A2	C4082173	Porencephaly	0.201923087489492	0	0	HPO
128439	SNHG11	C0023903	Liver neoplasms	0.2	1	0	CTD_human
1285	COL4A3	C0011053	Deafness	0.2	0	0	HPO
1285	COL4A3	C0017658	Glomerulonephritis	0.203557092817453	0	0	HPO
1285	COL4A3	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1285	COL4A3	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1285	COL4A3	C0018965	Hematuria	0.202732912464814	0	0	HPO
1285	COL4A3	C0020538	Hypertensive disease	0.2	0	0	HPO
1285	COL4A3	C0027092	Myopia	0.2	0	0	HPO
1285	COL4A3	C0027697	Nephritis	0.200274726784213	0	0	HPO
1285	COL4A3	C0027706	Hereditary nephritis	0.219679840822122	1	0	CTD_human
1285	COL4A3	C0027709	Nephrocalcinosis	0.2	0	0	HPO
1285	COL4A3	C0027726	Nephrotic Syndrome	0.2	0	0	HPO
1285	COL4A3	C0033687	Proteinuria	0.2	0	0	HPO
1285	COL4A3	C0085682	Hypophosphatemia	0.2	0	0	HPO
1285	COL4A3	C0086543	Cataract	0.2	0	0	HPO
1285	COL4A3	C0239119	Lenticonus	0.2	0	0	HPO
1285	COL4A3	C0241908	Hematuria, Benign Familial	0.402197814273705	1	5	CTD_human;UNIPROT
1285	COL4A3	C0242528	Azotemia	0.2	0	0	HPO
1285	COL4A3	C0339789	Congenital deafness	0.2	0	0	HPO
1285	COL4A3	C0344262	Anterior lenticonus	0.2	0	0	HPO
1285	COL4A3	C0392163	Corneal erosion	0.2	0	0	HPO
1285	COL4A3	C0445347	Thickening of glomerular basement membrane	0.2	0	0	HPO
1285	COL4A3	C0497247	Increase in blood pressure	0.2	0	0	HPO
1285	COL4A3	C1384666	hearing impairment	0.2	0	0	HPO
1285	COL4A3	C1510497	Lens Opacities	0.2	0	0	HPO
1285	COL4A3	C1567743	Alport Syndrome, Autosomal Dominant	0.400549453568426	1	3	ORPHANET;UNIPROT
1285	COL4A3	C1567744	Alport Syndrome, Autosomal Recessive	0.48439562854741	2	11	ORPHANET;UNIPROT
1285	COL4A3	C1855179	CATARACT, ANTERIOR POLAR	0.2	0	0	HPO
1285	COL4A3	C1864985	Progressive disorder	0.2	0	0	HPO
1285	COL4A3	C2316810	Chronic kidney disease stage 5	0.201373633921065	0	0	HPO
1285	COL4A3	C2931253	Alport syndrome, dominant type	0.2	0	0	ORPHANET
1285	COL4A3	C2931254	Alport syndrome, recessive type	0.2	0	0	CTD_human
1285	COL4A3	C3276821	Thin glomerular basement membrane	0.2	0	0	HPO
1285	COL4A3	C3278307	Diffuse lamellation of the glomerular basement membrane	0.2	0	0	HPO
1285	COL4A3	C3839460	Nonprogressive	0.2	0	0	HPO
1285	COL4A3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1285	COL4A3	C4280679	Increased calcium level in kidney	0.2	0	0	HPO
1286	COL4A4	C0011053	Deafness	0.2	0	0	HPO
1286	COL4A4	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1286	COL4A4	C0018965	Hematuria	0.202732912464814	0	0	HPO
1286	COL4A4	C0020538	Hypertensive disease	0.2	0	0	HPO
1286	COL4A4	C0027092	Myopia	0.2	0	0	HPO
1286	COL4A4	C0027697	Nephritis	0.2	0	0	HPO
1286	COL4A4	C0027726	Nephrotic Syndrome	0.2	0	0	HPO
1286	COL4A4	C0033687	Proteinuria	0.2	0	0	HPO
1286	COL4A4	C0086543	Cataract	0.2	0	0	HPO
1286	COL4A4	C0241908	Hematuria, Benign Familial	0.202747267842131	3	5	UNIPROT
1286	COL4A4	C0339789	Congenital deafness	0.2	0	0	HPO
1286	COL4A4	C0344262	Anterior lenticonus	0.2	0	0	HPO
1286	COL4A4	C0392163	Corneal erosion	0.2	0	0	HPO
1286	COL4A4	C0445347	Thickening of glomerular basement membrane	0.2	0	0	HPO
1286	COL4A4	C0497247	Increase in blood pressure	0.2	0	0	HPO
1286	COL4A4	C1384666	hearing impairment	0.202732912464814	0	0	HPO
1286	COL4A4	C1510497	Lens Opacities	0.2	0	0	HPO
1286	COL4A4	C1567743	Alport Syndrome, Autosomal Dominant	0.200274726784213	0	0	ORPHANET
1286	COL4A4	C1567744	Alport Syndrome, Autosomal Recessive	0.48357144819477	2	7	ORPHANET;UNIPROT
1286	COL4A4	C1864985	Progressive disorder	0.2	0	0	HPO
1286	COL4A4	C2316810	Chronic kidney disease stage 5	0.200549453568426	0	0	HPO
1286	COL4A4	C2931253	Alport syndrome, dominant type	0.2	0	0	ORPHANET
1286	COL4A4	C2931254	Alport syndrome, recessive type	0.2	0	0	CTD_human
1286	COL4A4	C3278307	Diffuse lamellation of the glomerular basement membrane	0.2	0	0	HPO
1286	COL4A4	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
128611	ZNF831	C0025202	melanoma	0.2	1	0	CTD_human
128637	TBC1D20	C1838625	Warburg Sjo Fledelius syndrome	0.200549453568426	0	0	ORPHANET
1287	COL4A5	C0009691	Congenital cataract	0.200274726784213	0	0	HPO
1287	COL4A5	C0018784	Sensorineural Hearing Loss (disorder)	0.200274726784213	0	0	HPO
1287	COL4A5	C0020538	Hypertensive disease	0.2	0	0	HPO
1287	COL4A5	C0020626	Hypoparathyroidism	0.2	0	0	HPO
1287	COL4A5	C0020757	Ichthyoses	0.2	0	0	HPO
1287	COL4A5	C0027092	Myopia	0.2	0	0	HPO
1287	COL4A5	C0027697	Nephritis	0.201373633921065	0	0	HPO
1287	COL4A5	C0027726	Nephrotic Syndrome	0.200274726784213	0	0	HPO
1287	COL4A5	C0033687	Proteinuria	0.2	0	0	HPO
1287	COL4A5	C0040034	Thrombocytopenia	0.2	0	0	HPO
1287	COL4A5	C0086533	Leiomyoma, Epithelioid	0.2	1	0	CTD_human
1287	COL4A5	C0239937	Microscopic hematuria	0.2	0	0	HPO
1287	COL4A5	C0344262	Anterior lenticonus	0.200274726784213	0	0	HPO
1287	COL4A5	C0392163	Corneal erosion	0.2	0	0	HPO
1287	COL4A5	C0392386	Decreased platelet count	0.2	0	0	HPO
1287	COL4A5	C0445347	Thickening of glomerular basement membrane	0.2	0	0	HPO
1287	COL4A5	C0497247	Increase in blood pressure	0.2	0	0	HPO
1287	COL4A5	C1567742	Alport Syndrome, X-Linked	0.697307787405425	17	500	CTD_human;ORPHANET;UNIPROT
1287	COL4A5	C1839884	Leiomyomatosis, esophageal and vulval, with nephropathy	0.200824180352639	0	0	ORPHANET
1287	COL4A5	C1847879	X-linked dominant	0.2	0	0	HPO
1287	COL4A5	C1864985	Progressive disorder	0.2	0	0	HPO
1287	COL4A5	C2316810	Chronic kidney disease stage 5	0.200824180352639	0	0	HPO
1287	COL4A5	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1287	COL4A5	C3278307	Diffuse lamellation of the glomerular basement membrane	0.2	0	0	HPO
1287	COL4A5	C4024984	Diffuse leiomyomatosis	0.201923087489492	0	0	HPO
1288	COL4A6	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1288	COL4A6	C0011053	Deafness	0.2	0	0	HPO
1288	COL4A6	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1288	COL4A6	C0086533	Leiomyoma, Epithelioid	0.2	1	0	CTD_human
1288	COL4A6	C0339789	Congenital deafness	0.2	0	0	HPO
1288	COL4A6	C1384666	hearing impairment	0.2	0	0	HPO
1288	COL4A6	C1839884	Leiomyomatosis, esophageal and vulval, with nephropathy	0.400549453568426	0	0	CTD_human;ORPHANET
1288	COL4A6	C1845977	X- linked recessive	0.2	0	0	HPO
1288	COL4A6	C1862050	Cochlear malformation	0.2	0	0	HPO
1288	COL4A6	C3806737	DEAFNESS, X-LINKED 6	0.2	1	1	UNIPROT
128866	CHMP4B	C1854311	Cataract, posterior polar, 3	0.4	1	2	CTD_human;UNIPROT
128866	CHMP4B	C3808377	CATARACT 16, MULTIPLE TYPES	0.2	0	0	ORPHANET
1289	COL5A1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1289	COL5A1	C0002949	Aneurysm, Dissecting	0.2	0	0	HPO
1289	COL5A1	C0006386	Bunion	0.2	0	0	HPO
1289	COL5A1	C0009081	Congenital clubfoot	0.2	0	0	HPO
1289	COL5A1	C0010417	Cryptorchidism	0.2	0	0	HPO
1289	COL5A1	C0011334	Dental caries	0.2	0	0	HPO
1289	COL5A1	C0013491	Ecchymosis	0.2	0	0	HPO
1289	COL5A1	C0013581	Ectopia Lentis	0.2	0	0	HPO
1289	COL5A1	C0015300	Exophthalmos	0.2	0	0	HPO
1289	COL5A1	C0016202	Flatfoot	0.2	0	0	HPO
1289	COL5A1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1289	COL5A1	C0017601	Glaucoma	0.2	0	0	HPO
1289	COL5A1	C0018536	Hallux Valgus	0.2	0	0	HPO
1289	COL5A1	C0018834	Heartburn	0.2	0	0	HPO
1289	COL5A1	C0019288	Hernia, Femoral	0.2	0	0	HPO
1289	COL5A1	C0019294	Hernia, Inguinal	0.2	0	0	HPO
1289	COL5A1	C0019322	Umbilical hernia	0.2	0	0	HPO
1289	COL5A1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1289	COL5A1	C0020621	Hypokalemia	0.2	0	0	HPO
1289	COL5A1	C0022548	Keloid	0.2	1	0	CTD_human
1289	COL5A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1289	COL5A1	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1289	COL5A1	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1289	COL5A1	C0026267	Mitral Valve Prolapse Syndrome	0.2	0	0	HPO
1289	COL5A1	C0027092	Myopia	0.2	0	0	HPO
1289	COL5A1	C0027962	Melanocytic nevus	0.2	0	0	HPO
1289	COL5A1	C0029408	Degenerative polyarthritis	0.200274726784213	0	0	HPO
1289	COL5A1	C0032326	Pneumothorax	0.2	0	0	HPO
1289	COL5A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1289	COL5A1	C0037932	Curvature of spine	0.2	0	0	HPO
1289	COL5A1	C0042345	Varicosity	0.2	0	0	HPO
1289	COL5A1	C0151526	Premature Birth	0.209628114093152	0	0	HPO
1289	COL5A1	C0152438	Sprengel deformity	0.2	0	0	HPO
1289	COL5A1	C0156273	Bladder Diverticulum	0.2	0	0	HPO
1289	COL5A1	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1289	COL5A1	C0162154	Atrophic scar	0.2	0	0	HPO
1289	COL5A1	C0233315	Premature birth of newborn	0.2	0	0	HPO
1289	COL5A1	C0235833	Congenital diaphragmatic hernia	0.2	0	0	HPO
1289	COL5A1	C0238669	Aortic root dilatation	0.2	0	0	HPO
1289	COL5A1	C0241074	Skin hyperelastic	0.2	0	0	HPO
1289	COL5A1	C0241178	Velvety skin	0.2	0	0	HPO
1289	COL5A1	C0241181	Fragile skin	0.2	0	0	HPO
1289	COL5A1	C0264133	Acquired flat foot	0.2	0	0	HPO
1289	COL5A1	C0265004	Dilatation of aorta	0.2	0	0	HPO
1289	COL5A1	C0266614	Bat ear	0.2	0	0	HPO
1289	COL5A1	C0268335	Ehlers-Danlos syndrome type 1	0.400824180352639	3	19	CTD_human;ORPHANET
1289	COL5A1	C0268336	Ehlers-Danlos syndrome type 2	0.400824180352639	2	0	CTD_human;ORPHANET
1289	COL5A1	C0268338	Ehlers-Danlos Syndrome, Type IV	0.2	0	0	ORPHANET
1289	COL5A1	C0332573	Macule	0.2	0	0	HPO
1289	COL5A1	C0338656	Impaired cognition	0.2	0	0	HPO
1289	COL5A1	C0340643	Dissection of aorta	0.2	0	0	HPO
1289	COL5A1	C0349588	Short stature	0.2	0	0	HPO
1289	COL5A1	C0423113	Telecanthus	0.2	0	0	HPO
1289	COL5A1	C0423757	Thin skin	0.2	0	0	HPO
1289	COL5A1	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1289	COL5A1	C0542514	Blue sclera	0.2	0	0	HPO
1289	COL5A1	C0546964	Genu recurvatum	0.200274726784213	0	0	HPO
1289	COL5A1	C0557874	Global developmental delay	0.2	0	0	HPO
1289	COL5A1	C0578038	Thin lips	0.2	0	0	HPO
1289	COL5A1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1289	COL5A1	C0683322	Mental impairment	0.2	0	0	HPO
1289	COL5A1	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
1289	COL5A1	C1305420	Prominent ear	0.2	0	0	HPO
1289	COL5A1	C1390214	Internal haemorrhage	0.2	0	0	HPO
1289	COL5A1	C1394691	Bowel diverticula	0.2	0	0	HPO
1289	COL5A1	C1395674	Bowel diverticulosis	0.2	0	0	HPO
1289	COL5A1	C1836646	Translucent skin	0.2	0	0	HPO
1289	COL5A1	C1837760	Prominent eyes	0.2	0	0	HPO
1289	COL5A1	C1844592	Soft skin	0.2	0	0	HPO
1289	COL5A1	C1844597	Molluscoid pseudotumors	0.2	0	0	HPO
1289	COL5A1	C1844820	Range of joint movement increased	0.2	0	0	HPO
1289	COL5A1	C1845878	Irregularly spaced teeth	0.2	0	0	HPO
1289	COL5A1	C1848490	Protruding eyes	0.2	0	0	HPO
1289	COL5A1	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
1289	COL5A1	C1851789	Poor wound healing	0.2	0	0	HPO
1289	COL5A1	C1851792	Aplasia/Hypoplasia of the earlobes	0.2	0	0	HPO
1289	COL5A1	C1851828	Cigarette-paper scars	0.2	0	0	HPO
1289	COL5A1	C1851833	Premature birth following premature rupture of fetal membranes	0.2	0	0	HPO
1289	COL5A1	C1851835	Narrow maxilla	0.2	0	0	HPO
1289	COL5A1	C1853241	Flat face	0.2	0	0	HPO
1289	COL5A1	C1855285	Protruding ears	0.2	0	0	HPO
1289	COL5A1	C1857693	Arteriovenous fistulas of celiac and mesenteric vessels	0.2	0	0	HPO
1289	COL5A1	C1860834	Infantile muscular hypotonia	0.2	0	0	HPO
1289	COL5A1	C1862425	Prominent globes	0.2	0	0	HPO
1289	COL5A1	C1864897	Cognitive delay	0.2	0	0	HPO
1289	COL5A1	C2051831	Pectus excavatum	0.2	0	0	HPO
1289	COL5A1	C2266639	Absence of eyebrows	0.2	0	0	HPO
1289	COL5A1	C2675111	Abnormal eyelashes	0.2	0	0	HPO
1289	COL5A1	C3152231	Gastrointestinal infarctions	0.2	0	0	HPO
1289	COL5A1	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
1289	COL5A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1289	COL5A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1289	COL5A1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1289	COL5A1	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
1289	COL5A1	C4021971	Peripheral arteriovenous fistula	0.2	0	0	HPO
1289	COL5A1	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
1289	COL5A1	C4025881	Abnormality of oral frenula	0.2	0	0	HPO
1289	COL5A1	C4225429	Ehlers-Danlos syndrome classic type	0.28	4	2	UNIPROT
1289	COL5A1	C4280269	Noncancerous mole	0.2	0	0	HPO
1289	COL5A1	C4280623	Rotting teeth	0.2	0	0	HPO
128989	TANGO2	C4225171	METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION	0.2	1	3	UNIPROT
1290	COL5A2	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1290	COL5A2	C0006386	Bunion	0.2	0	0	HPO
1290	COL5A2	C0013491	Ecchymosis	0.2	0	0	HPO
1290	COL5A2	C0013581	Ectopia Lentis	0.2	0	0	HPO
1290	COL5A2	C0016202	Flatfoot	0.2	0	0	HPO
1290	COL5A2	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1290	COL5A2	C0018536	Hallux Valgus	0.2	0	0	HPO
1290	COL5A2	C0018834	Heartburn	0.2	0	0	HPO
1290	COL5A2	C0019288	Hernia, Femoral	0.2	0	0	HPO
1290	COL5A2	C0019294	Hernia, Inguinal	0.2	0	0	HPO
1290	COL5A2	C0019322	Umbilical hernia	0.2	0	0	HPO
1290	COL5A2	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
1290	COL5A2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1290	COL5A2	C0026267	Mitral Valve Prolapse Syndrome	0.200274726784213	0	0	HPO
1290	COL5A2	C0027092	Myopia	0.2	0	0	HPO
1290	COL5A2	C0029408	Degenerative polyarthritis	0.2	0	0	HPO
1290	COL5A2	C0037932	Curvature of spine	0.2	0	0	HPO
1290	COL5A2	C0042345	Varicosity	0.2	0	0	HPO
1290	COL5A2	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1290	COL5A2	C0162154	Atrophic scar	0.2	0	0	HPO
1290	COL5A2	C0235833	Congenital diaphragmatic hernia	0.2	0	0	HPO
1290	COL5A2	C0238669	Aortic root dilatation	0.2	0	0	HPO
1290	COL5A2	C0241074	Skin hyperelastic	0.2	0	0	HPO
1290	COL5A2	C0241178	Velvety skin	0.2	0	0	HPO
1290	COL5A2	C0241181	Fragile skin	0.2	0	0	HPO
1290	COL5A2	C0264133	Acquired flat foot	0.2	0	0	HPO
1290	COL5A2	C0265004	Dilatation of aorta	0.2	0	0	HPO
1290	COL5A2	C0266614	Bat ear	0.2	0	0	HPO
1290	COL5A2	C0268335	Ehlers-Danlos syndrome type 1	0.4	0	0	CTD_human;ORPHANET
1290	COL5A2	C0268336	Ehlers-Danlos syndrome type 2	0.200274726784213	0	0	ORPHANET
1290	COL5A2	C0349588	Short stature	0.2	0	0	HPO
1290	COL5A2	C0423757	Thin skin	0.2	0	0	HPO
1290	COL5A2	C0423798	Increased tendency to bruise	0.2	0	0	HPO
1290	COL5A2	C0542514	Blue sclera	0.2	0	0	HPO
1290	COL5A2	C0546964	Genu recurvatum	0.2	0	0	HPO
1290	COL5A2	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1290	COL5A2	C0700208	Acquired scoliosis	0.2	0	0	HPO
1290	COL5A2	C1394691	Bowel diverticula	0.2	0	0	HPO
1290	COL5A2	C1395674	Bowel diverticulosis	0.2	0	0	HPO
1290	COL5A2	C1844592	Soft skin	0.2	0	0	HPO
1290	COL5A2	C1844597	Molluscoid pseudotumors	0.2	0	0	HPO
1290	COL5A2	C1844820	Range of joint movement increased	0.2	0	0	HPO
1290	COL5A2	C1845878	Irregularly spaced teeth	0.2	0	0	HPO
1290	COL5A2	C1851789	Poor wound healing	0.2	0	0	HPO
1290	COL5A2	C1851828	Cigarette-paper scars	0.2	0	0	HPO
1290	COL5A2	C1851833	Premature birth following premature rupture of fetal membranes	0.2	0	0	HPO
1290	COL5A2	C1851835	Narrow maxilla	0.2	0	0	HPO
1290	COL5A2	C1860834	Infantile muscular hypotonia	0.2	0	0	HPO
1290	COL5A2	C2051831	Pectus excavatum	0.2	0	0	HPO
1290	COL5A2	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1290	COL5A2	C4225429	Ehlers-Danlos syndrome classic type	0.28	1	0	UNIPROT
1291	COL6A1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1291	COL6A1	C0006625	Cachexia	0.2	0	0	HPO
1291	COL6A1	C0007222	Cardiovascular Diseases	0.2	0	0	HPO
1291	COL6A1	C0009081	Congenital clubfoot	0.2	0	0	HPO
1291	COL6A1	C0009917	Contracture	0.202732912464814	0	0	HPO
1291	COL6A1	C0009918	Contracture of joint	0.2	0	0	HPO
1291	COL6A1	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
1291	COL6A1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1291	COL6A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1291	COL6A1	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1291	COL6A1	C0026848	Myopathy	0.206839458850693	0	0	HPO
1291	COL6A1	C0026850	Muscular Dystrophy	0.214763469460921	1	0	CTD_human
1291	COL6A1	C0037932	Curvature of spine	0.2	0	0	HPO
1291	COL6A1	C0038990	Sweating	0.2	0	0	HPO
1291	COL6A1	C0040485	Torticollis	0.2	0	0	HPO
1291	COL6A1	C0079352	Congenital torticollis	0.2	0	0	HPO
1291	COL6A1	C0086437	Joint laxity	0.2	0	0	HPO
1291	COL6A1	C0149725	Lower respiratory tract infection	0.2	0	0	HPO
1291	COL6A1	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1291	COL6A1	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1291	COL6A1	C0162298	Joint stiffness	0.2	0	0	HPO
1291	COL6A1	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1291	COL6A1	C0231246	Failure to gain weight	0.2	0	0	HPO
1291	COL6A1	C0235659	Reduced fetal movement	0.2	0	0	HPO
1291	COL6A1	C0239479	Round face	0.2	0	0	HPO
1291	COL6A1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1291	COL6A1	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1291	COL6A1	C0243050	Cardiovascular Abnormalities	0.2	0	0	HPO
1291	COL6A1	C0333068	Flexion contracture	0.2	0	0	HPO
1291	COL6A1	C0334013	Phrynoderma	0.2	0	0	HPO
1291	COL6A1	C0376175	Bell Palsy	0.2	0	0	HPO
1291	COL6A1	C0409338	Flexion contracture - elbow	0.2	0	0	HPO
1291	COL6A1	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1291	COL6A1	C0410179	Scleroatonic muscular dystrophy	0.607626837423337	3	35	CTD_human;ORPHANET;UNIPROT
1291	COL6A1	C0427055	Facial Paresis	0.2	0	0	HPO
1291	COL6A1	C0427065	Distal muscle weakness	0.2	0	0	HPO
1291	COL6A1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1291	COL6A1	C0699743	Congenital muscular dystrophy (disorder)	0.2	0	0	HPO
1291	COL6A1	C0700208	Acquired scoliosis	0.2	0	0	HPO
1291	COL6A1	C0700590	Increased sweating	0.2	0	0	HPO
1291	COL6A1	C0949445	Cervical Dystonia	0.2	0	0	HPO
1291	COL6A1	C1305420	Prominent ear	0.2	0	0	HPO
1291	COL6A1	C1389113	Generalized amyotrophy	0.2	0	0	HPO
1291	COL6A1	C1834674	Bethlem myopathy	0.68357144819477	5	33	CTD_human;ORPHANET;UNIPROT
1291	COL6A1	C1837407	Ankle contracture	0.2	0	0	HPO
1291	COL6A1	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1291	COL6A1	C1843643	Nocturnal hypoventilation	0.2	0	0	HPO
1291	COL6A1	C1843700	Variation in muscle fiber size	0.2	0	0	HPO
1291	COL6A1	C1845112	Hyperkyphosis	0.2	0	0	HPO
1291	COL6A1	C1848924	Infantile onset	0.2	0	0	HPO
1291	COL6A1	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
1291	COL6A1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1291	COL6A1	C1850573	Slender build	0.2	0	0	HPO
1291	COL6A1	C1850848	Muscle fiber necrosis	0.2	0	0	HPO
1291	COL6A1	C1850853	Increased laxity of wrists	0.2	0	0	HPO
1291	COL6A1	C1850854	Increased laxity of ankles	0.2	0	0	HPO
1291	COL6A1	C1850855	Increased laxity of fingers	0.2	0	0	HPO
1291	COL6A1	C1854301	Motor delay	0.2	0	0	HPO
1291	COL6A1	C1854387	Type 1 muscle fiber predominance	0.2	0	0	HPO
1291	COL6A1	C1854494	Slow progression	0.2	0	0	HPO
1291	COL6A1	C1855285	Protruding ears	0.2	0	0	HPO
1291	COL6A1	C1856468	Round, full face	0.2	0	0	HPO
1291	COL6A1	C1858025	Spinal rigidity	0.2	0	0	HPO
1291	COL6A1	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1291	COL6A1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1291	COL6A1	C1861403	Variable expressivity	0.2	0	0	HPO
1291	COL6A1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1291	COL6A1	C1864985	Progressive disorder	0.2	0	0	HPO
1291	COL6A1	C1865343	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	0.202407028523288	0	0	CTD_human
1291	COL6A1	C1866862	Highly variable severity	0.2	0	0	HPO
1291	COL6A1	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1291	COL6A1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1291	COL6A1	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1291	COL6A1	C3163798	Recurrent lower respiratory tract infection	0.2	0	0	HPO
1291	COL6A1	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1291	COL6A1	C4020874	No development of motor milestones	0.2	0	0	HPO
1291	COL6A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1292	COL6A2	C0006625	Cachexia	0.2	0	0	HPO
1292	COL6A2	C0007222	Cardiovascular Diseases	0.2	0	0	HPO
1292	COL6A2	C0009081	Congenital clubfoot	0.2	0	0	HPO
1292	COL6A2	C0009917	Contracture	0.202732912464814	0	0	HPO
1292	COL6A2	C0009918	Contracture of joint	0.200549453568426	0	0	HPO
1292	COL6A2	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
1292	COL6A2	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1292	COL6A2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1292	COL6A2	C0026848	Myopathy	0.206839458850693	0	0	HPO
1292	COL6A2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1292	COL6A2	C0037932	Curvature of spine	0.2	0	0	HPO
1292	COL6A2	C0038990	Sweating	0.2	0	0	HPO
1292	COL6A2	C0040485	Torticollis	0.2	0	0	HPO
1292	COL6A2	C0079352	Congenital torticollis	0.2	0	0	HPO
1292	COL6A2	C0086437	Joint laxity	0.2	0	0	HPO
1292	COL6A2	C0149725	Lower respiratory tract infection	0.2	0	0	HPO
1292	COL6A2	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1292	COL6A2	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1292	COL6A2	C0162298	Joint stiffness	0.2	0	0	HPO
1292	COL6A2	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1292	COL6A2	C0231246	Failure to gain weight	0.2	0	0	HPO
1292	COL6A2	C0234958	muscle degeneration	0.2	0	0	HPO
1292	COL6A2	C0235063	Respiratory Depression	0.2	0	0	HPO
1292	COL6A2	C0235659	Reduced fetal movement	0.2	0	0	HPO
1292	COL6A2	C0239479	Round face	0.2	0	0	HPO
1292	COL6A2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1292	COL6A2	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1292	COL6A2	C0243050	Cardiovascular Abnormalities	0.2	0	0	HPO
1292	COL6A2	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1292	COL6A2	C0333068	Flexion contracture	0.2	0	0	HPO
1292	COL6A2	C0334013	Phrynoderma	0.2	0	0	HPO
1292	COL6A2	C0349588	Short stature	0.2	0	0	HPO
1292	COL6A2	C0376175	Bell Palsy	0.2	0	0	HPO
1292	COL6A2	C0409338	Flexion contracture - elbow	0.2	0	0	HPO
1292	COL6A2	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1292	COL6A2	C0410179	Scleroatonic muscular dystrophy	0.604120901763197	2	25	CTD_human;ORPHANET;UNIPROT
1292	COL6A2	C0410264	Contracture of tendo achilles	0.2	0	0	HPO
1292	COL6A2	C0427055	Facial Paresis	0.2	0	0	HPO
1292	COL6A2	C0427065	Distal muscle weakness	0.2	0	0	HPO
1292	COL6A2	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1292	COL6A2	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1292	COL6A2	C0699743	Congenital muscular dystrophy (disorder)	0.200274726784213	0	0	HPO
1292	COL6A2	C0700208	Acquired scoliosis	0.2	0	0	HPO
1292	COL6A2	C0700590	Increased sweating	0.2	0	0	HPO
1292	COL6A2	C0749379	Thoracolumbar scoliosis	0.2	0	0	HPO
1292	COL6A2	C0949445	Cervical Dystonia	0.2	0	0	HPO
1292	COL6A2	C1184923	Lumbar lordosis	0.2	0	0	HPO
1292	COL6A2	C1305420	Prominent ear	0.2	0	0	HPO
1292	COL6A2	C1389113	Generalized amyotrophy	0.2	0	0	HPO
1292	COL6A2	C1611706	Myosclerosis	0.2	0	0	ORPHANET
1292	COL6A2	C1834674	Bethlem myopathy	0.602197814273705	4	28	CTD_human;ORPHANET;UNIPROT
1292	COL6A2	C1837407	Ankle contracture	0.2	0	0	HPO
1292	COL6A2	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1292	COL6A2	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1292	COL6A2	C1843643	Nocturnal hypoventilation	0.2	0	0	HPO
1292	COL6A2	C1843700	Variation in muscle fiber size	0.2	0	0	HPO
1292	COL6A2	C1845112	Hyperkyphosis	0.2	0	0	HPO
1292	COL6A2	C1848924	Infantile onset	0.2	0	0	HPO
1292	COL6A2	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
1292	COL6A2	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1292	COL6A2	C1850573	Slender build	0.2	0	0	HPO
1292	COL6A2	C1850671	Myosclerosis, Autosomal Recessive	0.200274726784213	0	0	CTD_human
1292	COL6A2	C1850848	Muscle fiber necrosis	0.2	0	0	HPO
1292	COL6A2	C1850853	Increased laxity of wrists	0.2	0	0	HPO
1292	COL6A2	C1850854	Increased laxity of ankles	0.2	0	0	HPO
1292	COL6A2	C1850855	Increased laxity of fingers	0.2	0	0	HPO
1292	COL6A2	C1854301	Motor delay	0.2	0	0	HPO
1292	COL6A2	C1854387	Type 1 muscle fiber predominance	0.2	0	0	HPO
1292	COL6A2	C1854494	Slow progression	0.2	0	0	HPO
1292	COL6A2	C1855285	Protruding ears	0.2	0	0	HPO
1292	COL6A2	C1856468	Round, full face	0.2	0	0	HPO
1292	COL6A2	C1858025	Spinal rigidity	0.2	0	0	HPO
1292	COL6A2	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1292	COL6A2	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1292	COL6A2	C1861403	Variable expressivity	0.2	0	0	HPO
1292	COL6A2	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1292	COL6A2	C1864985	Progressive disorder	0.2	0	0	HPO
1292	COL6A2	C1866021	Increased connective tissue	0.2	0	0	HPO
1292	COL6A2	C1866862	Highly variable severity	0.2	0	0	HPO
1292	COL6A2	C1867006	Restricted neck movement due to contractures	0.2	0	0	HPO
1292	COL6A2	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1292	COL6A2	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1292	COL6A2	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1292	COL6A2	C3163798	Recurrent lower respiratory tract infection	0.2	0	0	HPO
1292	COL6A2	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1292	COL6A2	C4020874	No development of motor milestones	0.2	0	0	HPO
1292	COL6A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1293	COL6A3	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1293	COL6A3	C0006625	Cachexia	0.2	0	0	HPO
1293	COL6A3	C0007222	Cardiovascular Diseases	0.2	0	0	HPO
1293	COL6A3	C0009081	Congenital clubfoot	0.2	0	0	HPO
1293	COL6A3	C0009917	Contracture	0.2	0	0	HPO
1293	COL6A3	C0009918	Contracture of joint	0.200274726784213	0	0	HPO
1293	COL6A3	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
1293	COL6A3	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1293	COL6A3	C0026848	Myopathy	0.201098907136852	0	0	HPO
1293	COL6A3	C0037932	Curvature of spine	0.2	0	0	HPO
1293	COL6A3	C0038990	Sweating	0.2	0	0	HPO
1293	COL6A3	C0040485	Torticollis	0.2	0	0	HPO
1293	COL6A3	C0079352	Congenital torticollis	0.2	0	0	HPO
1293	COL6A3	C0086437	Joint laxity	0.2	0	0	HPO
1293	COL6A3	C0149725	Lower respiratory tract infection	0.2	0	0	HPO
1293	COL6A3	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1293	COL6A3	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1293	COL6A3	C0154676	Organic writer's cramp	0.2	0	0	HPO
1293	COL6A3	C0162298	Joint stiffness	0.2	0	0	HPO
1293	COL6A3	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1293	COL6A3	C0231246	Failure to gain weight	0.2	0	0	HPO
1293	COL6A3	C0234378	Static Tremor	0.2	0	0	HPO
1293	COL6A3	C0235659	Reduced fetal movement	0.2	0	0	HPO
1293	COL6A3	C0239479	Round face	0.2	0	0	HPO
1293	COL6A3	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1293	COL6A3	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1293	COL6A3	C0243050	Cardiovascular Abnormalities	0.2	0	0	HPO
1293	COL6A3	C0333068	Flexion contracture	0.2	0	0	HPO
1293	COL6A3	C0334013	Phrynoderma	0.2	0	0	HPO
1293	COL6A3	C0376175	Bell Palsy	0.2	0	0	HPO
1293	COL6A3	C0409338	Flexion contracture - elbow	0.2	0	0	HPO
1293	COL6A3	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1293	COL6A3	C0410179	Scleroatonic muscular dystrophy	0.683296721410557	1	21	CTD_human;ORPHANET;UNIPROT
1293	COL6A3	C0427055	Facial Paresis	0.2	0	0	HPO
1293	COL6A3	C0427065	Distal muscle weakness	0.2	0	0	HPO
1293	COL6A3	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1293	COL6A3	C0699743	Congenital muscular dystrophy (disorder)	0.2	0	0	HPO
1293	COL6A3	C0700208	Acquired scoliosis	0.2	0	0	HPO
1293	COL6A3	C0700590	Increased sweating	0.2	0	0	HPO
1293	COL6A3	C0949445	Cervical Dystonia	0.2	0	0	HPO
1293	COL6A3	C1305420	Prominent ear	0.2	0	0	HPO
1293	COL6A3	C1389113	Generalized amyotrophy	0.2	0	0	HPO
1293	COL6A3	C1834674	Bethlem myopathy	0.603296721410557	4	25	CTD_human;ORPHANET;UNIPROT
1293	COL6A3	C1837407	Ankle contracture	0.2	0	0	HPO
1293	COL6A3	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1293	COL6A3	C1843643	Nocturnal hypoventilation	0.2	0	0	HPO
1293	COL6A3	C1843700	Variation in muscle fiber size	0.2	0	0	HPO
1293	COL6A3	C1845112	Hyperkyphosis	0.2	0	0	HPO
1293	COL6A3	C1848924	Infantile onset	0.2	0	0	HPO
1293	COL6A3	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
1293	COL6A3	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1293	COL6A3	C1850573	Slender build	0.2	0	0	HPO
1293	COL6A3	C1850848	Muscle fiber necrosis	0.2	0	0	HPO
1293	COL6A3	C1850853	Increased laxity of wrists	0.2	0	0	HPO
1293	COL6A3	C1850854	Increased laxity of ankles	0.2	0	0	HPO
1293	COL6A3	C1850855	Increased laxity of fingers	0.2	0	0	HPO
1293	COL6A3	C1854301	Motor delay	0.2	0	0	HPO
1293	COL6A3	C1854387	Type 1 muscle fiber predominance	0.2	0	0	HPO
1293	COL6A3	C1854494	Slow progression	0.2	0	0	HPO
1293	COL6A3	C1855285	Protruding ears	0.2	0	0	HPO
1293	COL6A3	C1856468	Round, full face	0.2	0	0	HPO
1293	COL6A3	C1858025	Spinal rigidity	0.2	0	0	HPO
1293	COL6A3	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1293	COL6A3	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1293	COL6A3	C1861403	Variable expressivity	0.2	0	0	HPO
1293	COL6A3	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1293	COL6A3	C1864985	Progressive disorder	0.2	0	0	HPO
1293	COL6A3	C1866862	Highly variable severity	0.2	0	0	HPO
1293	COL6A3	C1963946	Laryngeal dystonia	0.2	0	0	HPO
1293	COL6A3	C2242577	Oromandibular dystonia	0.2	0	0	HPO
1293	COL6A3	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1293	COL6A3	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1293	COL6A3	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1293	COL6A3	C3163798	Recurrent lower respiratory tract infection	0.2	0	0	HPO
1293	COL6A3	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1293	COL6A3	C4020874	No development of motor milestones	0.2	0	0	HPO
1293	COL6A3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1293	COL6A3	C4225336	DYSTONIA 27	0.4	1	5	ORPHANET;UNIPROT
1294	COL7A1	C0002170	Alopecia	0.2	0	0	HPO
1294	COL7A1	C0002871	Anemia	0.2	0	0	HPO
1294	COL7A1	C0002893	Refractory anemias	0.2	0	0	HPO
1294	COL7A1	C0005741	Blepharitis	0.2	0	0	HPO
1294	COL7A1	C0007137	Squamous cell carcinoma	0.203831819601666	0	0	HPO
1294	COL7A1	C0007971	Cheilitis	0.2	0	0	HPO
1294	COL7A1	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1294	COL7A1	C0009763	Conjunctivitis	0.2	0	0	HPO
1294	COL7A1	C0009806	Constipation	0.2	0	0	HPO
1294	COL7A1	C0009917	Contracture	0.2	0	0	HPO
1294	COL7A1	C0009918	Contracture of joint	0.2	0	0	HPO
1294	COL7A1	C0011168	Deglutition Disorders	0.2	0	0	HPO
1294	COL7A1	C0011334	Dental caries	0.2	0	0	HPO
1294	COL7A1	C0011351	Dental Enamel Hypoplasia	0.2	0	0	HPO
1294	COL7A1	C0013592	Ectropion	0.2	0	0	HPO
1294	COL7A1	C0014866	Esophageal Stenosis	0.2	0	0	HPO
1294	COL7A1	C0025988	Microglossia	0.2	0	0	HPO
1294	COL7A1	C0026034	Microstomia	0.2	0	0	HPO
1294	COL7A1	C0029453	Osteopenia	0.2	0	0	HPO
1294	COL7A1	C0029456	Osteoporosis	0.2	0	0	HPO
1294	COL7A1	C0033774	Pruritus	0.202407028523288	0	0	HPO
1294	COL7A1	C0034012	Delayed Puberty	0.2	0	0	HPO
1294	COL7A1	C0037287	Skin nodule	0.2	0	0	HPO
1294	COL7A1	C0079294	Epidermolysis Bullosa Dystrophica	0.274574188449211	0	0	CTD_human
1294	COL7A1	C0079474	Hallopeau-Siemens Disease	0.501153962384409	16	27	ORPHANET;UNIPROT
1294	COL7A1	C0086543	Cataract	0.2	0	0	HPO
1294	COL7A1	C0151514	Atrophic condition of skin	0.2	0	0	HPO
1294	COL7A1	C0151686	Growth retardation	0.2	0	0	HPO
1294	COL7A1	C0152415	Ankyloglossia	0.2	0	0	HPO
1294	COL7A1	C0162119	Hemoglobin low	0.2	0	0	HPO
1294	COL7A1	C0162154	Atrophic scar	0.2	0	0	HPO
1294	COL7A1	C0162429	Malnutrition	0.2	0	0	HPO
1294	COL7A1	C0221260	Dystrophia unguium	0.200549453568426	0	0	HPO
1294	COL7A1	C0237326	Dyschezia	0.2	0	0	HPO
1294	COL7A1	C0238115	Boerhaave syndrome	0.2	0	0	HPO
1294	COL7A1	C0241054	Skin bulla	0.2	0	0	HPO
1294	COL7A1	C0241181	Fragile skin	0.2	0	0	HPO
1294	COL7A1	C0241423	Atrophy of tongue	0.2	0	0	HPO
1294	COL7A1	C0265989	Congenital scar	0.2	0	0	HPO
1294	COL7A1	C0268371	Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	0.2	0	0	CTD_human
1294	COL7A1	C0271321	Madarosis of eyelid	0.2	0	0	HPO
1294	COL7A1	C0282160	Aplasia Cutis Congenita	0.200274726784213	0	0	HPO
1294	COL7A1	C0332563	Papule	0.2	0	0	HPO
1294	COL7A1	C0333068	Flexion contracture	0.2	0	0	HPO
1294	COL7A1	C0339063	Cellulitis of eyelid	0.2	0	0	HPO
1294	COL7A1	C0345996	Milium Cyst	0.2	0	0	HPO
1294	COL7A1	C0349702	Corneal Scar	0.2	0	0	HPO
1294	COL7A1	C0392163	Corneal erosion	0.2	0	0	HPO
1294	COL7A1	C0423757	Thin skin	0.2	0	0	HPO
1294	COL7A1	C0426492	Small tongue	0.2	0	0	HPO
1294	COL7A1	C0426494	Wasting of tongue	0.2	0	0	HPO
1294	COL7A1	C0432321	Epidermolysis bullosa, pretibial	0.601098907136852	1	1	CTD_human;HPO;ORPHANET;UNIPROT
1294	COL7A1	C0432322	Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	0.601923087489492	15	15	CTD_human;ORPHANET;UNIPROT
1294	COL7A1	C0456070	Growth delay	0.2	0	0	HPO
1294	COL7A1	C0553723	Squamous cell carcinoma of skin	0.200549453568426	0	0	HPO
1294	COL7A1	C0747078	Generalized osteopenia	0.2	0	0	HPO
1294	COL7A1	C0751688	Malignant Squamous Cell Neoplasm	0.2	0	0	HPO
1294	COL7A1	C0853945	Oral mucosal blistering	0.2	0	0	HPO
1294	COL7A1	C0878787	Growth failure	0.2	0	0	HPO
1294	COL7A1	C1275114	Epidermolysis Bullosa Pruriginosa	0.603296721410557	1	2	CTD_human;ORPHANET;UNIPROT
1294	COL7A1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1294	COL7A1	C1510497	Lens Opacities	0.2	0	0	HPO
1294	COL7A1	C1833225	Dystrophic toenail changes	0.2	0	0	HPO
1294	COL7A1	C1834405	Nail dysplasia	0.2	0	0	HPO
1294	COL7A1	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1294	COL7A1	C1837385	Poor growth	0.2	0	0	HPO
1294	COL7A1	C1839364	Progressive visual loss	0.2	0	0	HPO
1294	COL7A1	C1843477	Epidermolysis Bullosa Simplex Superficialis	0.2	0	0	ORPHANET
1294	COL7A1	C1843761	TOENAIL DYSTROPHY, ISOLATED	0.4	1	4	CTD_human;UNIPROT
1294	COL7A1	C1844554	Absent fingernails	0.2	0	0	HPO
1294	COL7A1	C1844555	Absent toenails (anonychia)	0.2	0	0	HPO
1294	COL7A1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1294	COL7A1	C1851573	Transient bullous dermolysis of the newborn	0.600824180352639	2	3	CTD_human;ORPHANET;UNIPROT
1294	COL7A1	C1851854	Thin dental enamel	0.2	0	0	HPO
1294	COL7A1	C1856023	Vaginal malformation	0.2	0	0	HPO
1294	COL7A1	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
1294	COL7A1	C1969236	Pseudosyndactyly	0.2	0	0	HPO
1294	COL7A1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1294	COL7A1	C2220104	Blister of skin	0.2	0	0	HPO
1294	COL7A1	C2673597	Congenital localized absence of skin	0.2	0	0	HPO
1294	COL7A1	C2752013	Prenatal onset	0.2	0	0	HPO
1294	COL7A1	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1294	COL7A1	C3551426	Dystrophic fingernails	0.2	0	0	HPO
1294	COL7A1	C3552463	Very poor growth	0.2	0	0	HPO
1294	COL7A1	C3806301	Scarring alopecia of scalp	0.2	0	0	HPO
1294	COL7A1	C3814530	Skin Vesicle	0.2	0	0	HPO
1294	COL7A1	C3839753	Abnormality of nail of toe	0.2	0	0	HPO
1294	COL7A1	C3887524	Skin Erosion	0.2	0	0	HPO
1294	COL7A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1294	COL7A1	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1294	COL7A1	C4021782	Abnormality of the fingernails	0.2	0	0	HPO
1294	COL7A1	C4021786	Atypical scarring of skin	0.2	0	0	HPO
1294	COL7A1	C4025329	Abnormality of the anus	0.2	0	0	HPO
1294	COL7A1	C4280288	Red and sore lips	0.2	0	0	HPO
1294	COL7A1	C4280456	Dysplasia of tooth enamel	0.2	0	0	HPO
1294	COL7A1	C4280457	Defective enamel matrix	0.2	0	0	HPO
1294	COL7A1	C4280623	Rotting teeth	0.2	0	0	HPO
1295	COL8A1	C0000768	Congenital Abnormality	0.2	1	0	CTD_human
129563	DIS3L2	C0027708	Nephroblastoma	0.201648360705279	0	0	ORPHANET
129563	DIS3L2	C0796113	Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor	0.601373633921066	1	2	CTD_human;ORPHANET;UNIPROT
1296	COL8A2	C0010036	Corneal dystrophy	0.201373633921065	0	0	HPO
1296	COL8A2	C0010038	Corneal Opacity	0.2	0	0	HPO
1296	COL8A2	C0016781	Fuchs Endothelial Dystrophy	0.205978476718058	0	0	ORPHANET
1296	COL8A2	C0155116	Descemet's membrane fold	0.2	0	0	HPO
1296	COL8A2	C0155118	Corneal degeneration	0.2	0	0	HPO
1296	COL8A2	C0271288	Corneal guttata	0.2	0	0	HPO
1296	COL8A2	C0339284	Polymorphous corneal dystrophy	0.400824180352639	0	0	CTD_human;ORPHANET
1296	COL8A2	C0474444	Corneal stromal edema	0.2	0	0	HPO
1296	COL8A2	C0521719	Clouding of corneal stroma	0.2	0	0	HPO
1296	COL8A2	C1850959	Corneal dystrophy, Fuchs' endothelial, 1	0.480274726784213	2	6	CTD_human;UNIPROT
1296	COL8A2	C1852795	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	0.4	0	0	CTD_human;UNIPROT
1297	COL9A1	C0002418	Amblyopia	0.2	0	0	HPO
1297	COL9A1	C0003862	Arthralgia	0.2	0	0	HPO
1297	COL9A1	C0004106	Astigmatism	0.2	0	0	HPO
1297	COL9A1	C0008925	Cleft Palate	0.2	0	0	HPO
1297	COL9A1	C0018784	Sensorineural Hearing Loss (disorder)	0.4	1	0	CTD_human;HPO
1297	COL9A1	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1297	COL9A1	C0019559	Hip pain	0.2	0	0	HPO
1297	COL9A1	C0025990	Micrognathism	0.2	0	0	HPO
1297	COL9A1	C0025995	Micromelia	0.2	0	0	HPO
1297	COL9A1	C0026760	Multiple Epiphyseal Dysplasia	0.203021994626344	0	0	HPO
1297	COL9A1	C0027092	Myopia	0.4	1	0	CTD_human;HPO
1297	COL9A1	C0029408	Degenerative polyarthritis	0.205638237399215	0	0	HPO
1297	COL9A1	C0029422	Osteochondrodysplasias	0.202732912464814	2	0	CTD_human
1297	COL9A1	C0035305	Retinal Detachment	0.2	0	0	HPO
1297	COL9A1	C0035309	Retinal Diseases	0.2	1	0	CTD_human
1297	COL9A1	C0086543	Cataract	0.2	0	0	HPO
1297	COL9A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1297	COL9A1	C0271183	Severe myopia	0.2	0	0	HPO
1297	COL9A1	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
1297	COL9A1	C0349588	Short stature	0.2	0	0	HPO
1297	COL9A1	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1297	COL9A1	C0410632	Schmorl's nodes	0.2	0	0	HPO
1297	COL9A1	C0575081	Gait abnormality	0.2	0	0	HPO
1297	COL9A1	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1297	COL9A1	C1510497	Lens Opacities	0.2	0	0	HPO
1297	COL9A1	C1837352	Childhood onset	0.2	0	0	HPO
1297	COL9A1	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1297	COL9A1	C1842155	Flat proximal femoral epiphyses	0.2	0	0	HPO
1297	COL9A1	C1843486	Degenerative vitreoretinopathy	0.2	0	0	HPO
1297	COL9A1	C1844704	Platyspondyly	0.2	0	0	HPO
1297	COL9A1	C1846449	Irregular epiphyses	0.2	0	0	HPO
1297	COL9A1	C1846803	Small epiphyses	0.2	0	0	HPO
1297	COL9A1	C1853241	Flat face	0.2	0	0	HPO
1297	COL9A1	C1857108	Decreased joint mobility	0.2	0	0	HPO
1297	COL9A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1297	COL9A1	C1858085	Malar flattening	0.2	0	0	HPO
1297	COL9A1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1297	COL9A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1297	COL9A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1297	COL9A1	C4021599	Flat distal femoral epiphysis	0.2	0	0	HPO
1297	COL9A1	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1297	COL9A1	C4025050	Irregular distal femoral epiphysis	0.2	0	0	HPO
1297	COL9A1	C4025676	Abnormality of the knee	0.2	0	0	HPO
1297	COL9A1	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1297	COL9A1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
129787	TMEM18	C0028754	Obesity	0.243457538488444	1	0	CTD_human
1298	COL9A2	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1298	COL9A2	C0002418	Amblyopia	0.2	0	0	HPO
1298	COL9A2	C0003862	Arthralgia	0.2	0	0	HPO
1298	COL9A2	C0004106	Astigmatism	0.2	0	0	HPO
1298	COL9A2	C0008925	Cleft Palate	0.2	0	0	HPO
1298	COL9A2	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1298	COL9A2	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1298	COL9A2	C0025990	Micrognathism	0.2	0	0	HPO
1298	COL9A2	C0025995	Micromelia	0.2	0	0	HPO
1298	COL9A2	C0027092	Myopia	0.2	0	0	HPO
1298	COL9A2	C0029408	Degenerative polyarthritis	0.202956482091714	0	0	HPO
1298	COL9A2	C0035305	Retinal Detachment	0.2	0	0	HPO
1298	COL9A2	C0086543	Cataract	0.2	0	0	HPO
1298	COL9A2	C0158252	Intervertebral disc disorder	0.406187690967642	1	1	CTD_human;UNIPROT
1298	COL9A2	C0231712	Waddling gait	0.2	0	0	HPO
1298	COL9A2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1298	COL9A2	C0271183	Severe myopia	0.2	0	0	HPO
1298	COL9A2	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
1298	COL9A2	C0349588	Short stature	0.2	0	0	HPO
1298	COL9A2	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1298	COL9A2	C0409959	Osteoarthritis, Knee	0.2	0	0	HPO
1298	COL9A2	C0544755	Genu varum	0.2	0	0	HPO
1298	COL9A2	C0575081	Gait abnormality	0.2	0	0	HPO
1298	COL9A2	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1298	COL9A2	C1510497	Lens Opacities	0.2	0	0	HPO
1298	COL9A2	C1838429	Epiphyseal dysplasia, multiple, 2	0.2	0	0	CTD_human
1298	COL9A2	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1298	COL9A2	C1843108	Short hands	0.2	0	0	HPO
1298	COL9A2	C1844704	Platyspondyly	0.2	0	0	HPO
1298	COL9A2	C1846449	Irregular epiphyses	0.2	0	0	HPO
1298	COL9A2	C1853241	Flat face	0.2	0	0	HPO
1298	COL9A2	C1857108	Decreased joint mobility	0.2	0	0	HPO
1298	COL9A2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1298	COL9A2	C1857527	Flat epiphyses	0.2	0	0	HPO
1298	COL9A2	C1858085	Malar flattening	0.2	0	0	HPO
1298	COL9A2	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1298	COL9A2	C3150077	Short stature, mild	0.2	0	0	HPO
1298	COL9A2	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1298	COL9A2	C4020838	Relative short stature	0.2	0	0	HPO
1298	COL9A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1298	COL9A2	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1298	COL9A2	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1298	COL9A2	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
129880	BBS5	C0752166	Bardet-Biedl Syndrome	0.406839458850693	0	0	CTD_human;ORPHANET
129880	BBS5	C3892039	BARDET-BIEDL SYNDROME 5	0.200549453568426	2	3	UNIPROT
1299	COL9A3	C0002418	Amblyopia	0.2	0	0	HPO
1299	COL9A3	C0003862	Arthralgia	0.2	0	0	HPO
1299	COL9A3	C0004106	Astigmatism	0.2	0	0	HPO
1299	COL9A3	C0008925	Cleft Palate	0.2	0	0	HPO
1299	COL9A3	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1299	COL9A3	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1299	COL9A3	C0025990	Micrognathism	0.2	0	0	HPO
1299	COL9A3	C0025995	Micromelia	0.2	0	0	HPO
1299	COL9A3	C0027092	Myopia	0.2	0	0	HPO
1299	COL9A3	C0029408	Degenerative polyarthritis	0.205363510615002	0	0	HPO
1299	COL9A3	C0035305	Retinal Detachment	0.2	0	0	HPO
1299	COL9A3	C0086543	Cataract	0.2	0	0	HPO
1299	COL9A3	C0158252	Intervertebral disc disorder	0.203231208875927	0	0	CTD_human
1299	COL9A3	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1299	COL9A3	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1299	COL9A3	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
1299	COL9A3	C0349588	Short stature	0.2	0	0	HPO
1299	COL9A3	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1299	COL9A3	C0575081	Gait abnormality	0.2	0	0	HPO
1299	COL9A3	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1299	COL9A3	C1510497	Lens Opacities	0.2	0	0	HPO
1299	COL9A3	C1832998	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	0.4	1	1	CTD_human;UNIPROT
1299	COL9A3	C1837084	Short metacarpal	0.2	0	0	HPO
1299	COL9A3	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1299	COL9A3	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1299	COL9A3	C1844704	Platyspondyly	0.2	0	0	HPO
1299	COL9A3	C1846449	Irregular epiphyses	0.2	0	0	HPO
1299	COL9A3	C1846803	Small epiphyses	0.2	0	0	HPO
1299	COL9A3	C1850309	Mildly increased creatine kinase	0.2	0	0	HPO
1299	COL9A3	C1853241	Flat face	0.2	0	0	HPO
1299	COL9A3	C1857108	Decreased joint mobility	0.2	0	0	HPO
1299	COL9A3	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1299	COL9A3	C1858085	Malar flattening	0.2	0	0	HPO
1299	COL9A3	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1299	COL9A3	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1299	COL9A3	C3150077	Short stature, mild	0.2	0	0	HPO
1299	COL9A3	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1299	COL9A3	C4020838	Relative short stature	0.2	0	0	HPO
1299	COL9A3	C4020870	Abnormality of the hip joint	0.2	0	0	HPO
1299	COL9A3	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1299	COL9A3	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
1299	COL9A3	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1299	COL9A3	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
130	ADH6	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
1300	COL10A1	C0010278	Craniosynostosis	0.2	0	0	HPO
1300	COL10A1	C0011053	Deafness	0.2	0	0	HPO
1300	COL10A1	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1300	COL10A1	C0020437	Hypercalcemia	0.2	0	0	HPO
1300	COL10A1	C0025990	Micrognathism	0.2	0	0	HPO
1300	COL10A1	C0221354	Frontal bossing	0.2	0	0	HPO
1300	COL10A1	C0221357	Brachydactyly	0.2	0	0	HPO
1300	COL10A1	C0231712	Waddling gait	0.200549453568426	0	0	HPO
1300	COL10A1	C0235942	Skull malformation	0.2	0	0	HPO
1300	COL10A1	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
1300	COL10A1	C0239399	Short extremities	0.2	0	0	HPO
1300	COL10A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1300	COL10A1	C0265289	Metaphyseal chondrodysplasia Schmid type	0.681373633921066	2	14	CTD_human;ORPHANET;UNIPROT
1300	COL10A1	C0265290	Metaphyseal chondrodysplasia	0.201923087489492	0	0	HPO
1300	COL10A1	C0339789	Congenital deafness	0.2	0	0	HPO
1300	COL10A1	C0544755	Genu varum	0.2	0	0	HPO
1300	COL10A1	C1384666	hearing impairment	0.2	0	0	HPO
1300	COL10A1	C1834975	Irregular acetabular roof	0.2	0	0	HPO
1300	COL10A1	C1834980	Metaphyseal cupping of proximal phalanges	0.2	0	0	HPO
1300	COL10A1	C1835473	Diaphyseal thickening	0.2	0	0	HPO
1300	COL10A1	C1839829	Short distal phalanges	0.2	0	0	HPO
1300	COL10A1	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1300	COL10A1	C1844704	Platyspondyly	0.2	0	0	HPO
1300	COL10A1	C1846950	Short middle phalanges	0.2	0	0	HPO
1300	COL10A1	C1855171	Metaphyseal cupping of metacarpals	0.2	0	0	HPO
1300	COL10A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1300	COL10A1	C1859461	Femoral bowing	0.2	0	0	HPO
1300	COL10A1	C1859697	Enlarged capital femoral epiphyses	0.2	0	0	HPO
1300	COL10A1	C1861519	Short stature, moderate	0.2	0	0	HPO
1300	COL10A1	C3150077	Short stature, mild	0.2	0	0	HPO
1300	COL10A1	C4020838	Relative short stature	0.2	0	0	HPO
1300	COL10A1	C4021383	Broad middle phalanx of finger	0.2	0	0	HPO
1300	COL10A1	C4021598	Distal tibial bowing	0.2	0	0	HPO
1300	COL10A1	C4021657	Abnormality of bone mineral density	0.2	0	0	HPO
1300	COL10A1	C4025047	Proximal femoral metaphyseal abnormality	0.2	0	0	HPO
1300	COL10A1	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1301	COL11A1	C0002418	Amblyopia	0.2	0	0	HPO
1301	COL11A1	C0003706	Arachnodactyly	0.2	0	0	HPO
1301	COL11A1	C0003862	Arthralgia	0.2	0	0	HPO
1301	COL11A1	C0004106	Astigmatism	0.2	0	0	HPO
1301	COL11A1	C0008925	Cleft Palate	0.202681755307501	0	0	HPO
1301	COL11A1	C0009691	Congenital cataract	0.2	0	0	HPO
1301	COL11A1	C0010038	Corneal Opacity	0.2	0	0	HPO
1301	COL11A1	C0013581	Ectopia Lentis	0.2	0	0	HPO
1301	COL11A1	C0014877	Esotropia	0.2	0	0	HPO
1301	COL11A1	C0015300	Exophthalmos	0.2	0	0	HPO
1301	COL11A1	C0016522	Foramen Ovale, Patent	0.2	0	0	HPO
1301	COL11A1	C0017601	Glaucoma	0.200549453568426	0	0	HPO
1301	COL11A1	C0017605	Angle Closure Glaucoma	0.200274726784213	2	0	CTD_human
1301	COL11A1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1301	COL11A1	C0020305	Hydrops Fetalis	0.2	0	0	HPO
1301	COL11A1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1301	COL11A1	C0020620	Hypohidrosis	0.2	0	0	HPO
1301	COL11A1	C0020678	Hypotrichosis	0.2	0	0	HPO
1301	COL11A1	C0021818	Intervertebral Disk Displacement	0.204814057046576	1	0	CTD_human
1301	COL11A1	C0022408	Arthropathy	0.2	0	0	HPO
1301	COL11A1	C0025990	Micrognathism	0.2	0	0	HPO
1301	COL11A1	C0025995	Micromelia	0.2	0	0	HPO
1301	COL11A1	C0026034	Microstomia	0.2	0	0	HPO
1301	COL11A1	C0027092	Myopia	0.2	0	0	HPO
1301	COL11A1	C0029408	Degenerative polyarthritis	0.202956482091714	0	0	HPO
1301	COL11A1	C0029422	Osteochondrodysplasias	0.200549453568426	1	0	CTD_human
1301	COL11A1	C0029927	Ovarian Cysts	0.2	1	0	CTD_human
1301	COL11A1	C0031900	Pierre Robin Syndrome	0.200274726784213	0	0	HPO
1301	COL11A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1301	COL11A1	C0035305	Retinal Detachment	0.2	0	0	HPO
1301	COL11A1	C0035309	Retinal Diseases	0.2	0	0	HPO
1301	COL11A1	C0038015	Spondyloepiphyseal Dysplasia	0.2	0	0	HPO
1301	COL11A1	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1301	COL11A1	C0042798	Low Vision	0.2	0	0	HPO
1301	COL11A1	C0086543	Cataract	0.200274726784213	0	0	HPO
1301	COL11A1	C0151526	Premature Birth	0.2	0	0	HPO
1301	COL11A1	C0158113	Contracture of joint of hand	0.2	0	0	HPO
1301	COL11A1	C0158252	Intervertebral disc disorder	0.200274726784213	0	0	CTD_human
1301	COL11A1	C0221354	Frontal bossing	0.2	0	0	HPO
1301	COL11A1	C0221356	Brachycephaly	0.2	0	0	HPO
1301	COL11A1	C0221357	Brachydactyly	0.2	0	0	HPO
1301	COL11A1	C0233315	Premature birth of newborn	0.2	0	0	HPO
1301	COL11A1	C0239137	Coxa valga	0.2	0	0	HPO
1301	COL11A1	C0239234	Low set ears	0.2	0	0	HPO
1301	COL11A1	C0239479	Round face	0.2	0	0	HPO
1301	COL11A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1301	COL11A1	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
1301	COL11A1	C0262444	Dental abnormalities	0.2	0	0	HPO
1301	COL11A1	C0265235	Marshall syndrome	0.481098907136852	1	3	CTD_human;ORPHANET
1301	COL11A1	C0265282	Fibrochondrogenesis	0.200824180352639	0	0	ORPHANET
1301	COL11A1	C0266122	Cleft uvula	0.2	0	0	HPO
1301	COL11A1	C0267048	Glossoptosis	0.2	0	0	HPO
1301	COL11A1	C0270685	Cerebral calcification	0.2	0	0	HPO
1301	COL11A1	C0271183	Severe myopia	0.200274726784213	0	0	HPO
1301	COL11A1	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
1301	COL11A1	C0344530	Congenital keratoglobus	0.2	0	0	HPO
1301	COL11A1	C0345375	Congenital hypoplasia of femur	0.2	0	0	HPO
1301	COL11A1	C0349588	Short stature	0.2	0	0	HPO
1301	COL11A1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1301	COL11A1	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1301	COL11A1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1301	COL11A1	C0426414	Small nose	0.2	0	0	HPO
1301	COL11A1	C0426790	Narrow thorax	0.2	0	0	HPO
1301	COL11A1	C0426808	Long clavicle	0.2	0	0	HPO
1301	COL11A1	C0426817	Short ribs	0.2	0	0	HPO
1301	COL11A1	C0426818	Thin rib	0.2	0	0	HPO
1301	COL11A1	C0431483	Simple ear	0.2	0	0	HPO
1301	COL11A1	C0521525	Short neck	0.2	0	0	HPO
1301	COL11A1	C0521719	Clouding of corneal stroma	0.2	0	0	HPO
1301	COL11A1	C0566888	Narrow sacrosciatic notch	0.2	0	0	HPO
1301	COL11A1	C0575535	Thin clavicle	0.2	0	0	HPO
1301	COL11A1	C0575802	Small hand	0.2	0	0	HPO
1301	COL11A1	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1301	COL11A1	C0595939	Stillbirth	0.2	0	0	HPO
1301	COL11A1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1301	COL11A1	C0685409	Congenital Camptodactyly	0.2	0	0	HPO
1301	COL11A1	C0740852	Upper airway obstruction	0.2	0	0	HPO
1301	COL11A1	C0795690	Congenital omphalocele	0.2	0	0	HPO
1301	COL11A1	C0857379	Auricular malformation	0.2	0	0	HPO
1301	COL11A1	C1167712	Corneal diameter increased	0.2	0	0	HPO
1301	COL11A1	C1397139	Calcification of falx cerebri	0.2	0	0	HPO
1301	COL11A1	C1510497	Lens Opacities	0.2	0	0	HPO
1301	COL11A1	C1832119	Fibular hypoplasia	0.2	0	0	HPO
1301	COL11A1	C1835095	Prominent, protruding upper incisors	0.2	0	0	HPO
1301	COL11A1	C1835101	Wide tufts of distal phalanges	0.2	0	0	HPO
1301	COL11A1	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1301	COL11A1	C1836868	Broad ischia	0.2	0	0	HPO
1301	COL11A1	C1837279	Hypoplastic toenails	0.2	0	0	HPO
1301	COL11A1	C1837482	Thoracic hypoplasia	0.2	0	0	HPO
1301	COL11A1	C1837483	Posterior rib cupping	0.2	0	0	HPO
1301	COL11A1	C1837760	Prominent eyes	0.2	0	0	HPO
1301	COL11A1	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
1301	COL11A1	C1839739	Prominent lower lip	0.2	0	0	HPO
1301	COL11A1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1301	COL11A1	C1840077	Anteverted nostril	0.2	0	0	HPO
1301	COL11A1	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1301	COL11A1	C1843108	Short hands	0.2	0	0	HPO
1301	COL11A1	C1844704	Platyspondyly	0.2	0	0	HPO
1301	COL11A1	C1844820	Range of joint movement increased	0.2	0	0	HPO
1301	COL11A1	C1846154	Anterior rib cupping	0.2	0	0	HPO
1301	COL11A1	C1846423	Thick upper lip vermilion	0.2	0	0	HPO
1301	COL11A1	C1846434	Hypoplastic scapulae	0.2	0	0	HPO
1301	COL11A1	C1848490	Protruding eyes	0.2	0	0	HPO
1301	COL11A1	C1848654	Broad ribs	0.2	0	0	HPO
1301	COL11A1	C1848673	Hypoplastic feet	0.2	0	0	HPO
1301	COL11A1	C1849367	Nasal bridge wide	0.2	0	0	HPO
1301	COL11A1	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1301	COL11A1	C1853241	Flat face	0.2	0	0	HPO
1301	COL11A1	C1853242	Midface retrusion	0.2	0	0	HPO
1301	COL11A1	C1854114	Short nose	0.2	0	0	HPO
1301	COL11A1	C1854912	Short tubular bones	0.2	0	0	HPO
1301	COL11A1	C1854928	Protuberant abdomen	0.2	0	0	HPO
1301	COL11A1	C1855669	Absent frontal sinuses	0.2	0	0	HPO
1301	COL11A1	C1856468	Round, full face	0.2	0	0	HPO
1301	COL11A1	C1856778	Widely patent coronal suture	0.2	0	0	HPO
1301	COL11A1	C1856779	Widely patent sagittal suture	0.2	0	0	HPO
1301	COL11A1	C1856780	Posterior vertebral hypoplasia	0.2	0	0	HPO
1301	COL11A1	C1856786	Hypoplastic fingernails	0.2	0	0	HPO
1301	COL11A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1301	COL11A1	C1858084	STICKLER SYNDROME, TYPE II (disorder)	0.681373633921066	3	7	CTD_human;ORPHANET;UNIPROT
1301	COL11A1	C1858085	Malar flattening	0.2	0	0	HPO
1301	COL11A1	C1858091	Long fingers	0.2	0	0	HPO
1301	COL11A1	C1858452	Thickened calvaria	0.2	0	0	HPO
1301	COL11A1	C1859399	Radial bowing	0.2	0	0	HPO
1301	COL11A1	C1859447	Hypoplastic ischia	0.2	0	0	HPO
1301	COL11A1	C1859461	Femoral bowing	0.2	0	0	HPO
1301	COL11A1	C1859682	Hypoplastic frontal sinuses	0.2	0	0	HPO
1301	COL11A1	C1861218	Hypoplastic ilia	0.2	0	0	HPO
1301	COL11A1	C1862425	Prominent globes	0.2	0	0	HPO
1301	COL11A1	C1865014	Long philtrum	0.2	0	0	HPO
1301	COL11A1	C1865186	Bell-shaped thorax	0.2	0	0	HPO
1301	COL11A1	C1865847	Ulnar bowing	0.2	0	0	HPO
1301	COL11A1	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1301	COL11A1	C1866730	Rhizomelia	0.2	0	0	HPO
1301	COL11A1	C2053437	Full lower lip	0.2	0	0	HPO
1301	COL11A1	C2673410	Small midface	0.2	0	0	HPO
1301	COL11A1	C2749582	Dumbbell-shaped long bones	0.2	0	0	HPO
1301	COL11A1	C2981150	Uranostaphyloschisis	0.200274726784213	0	0	HPO
1301	COL11A1	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1301	COL11A1	C3278138	FIBROCHONDROGENESIS 1	0.2	1	0	UNIPROT
1301	COL11A1	C3549698	Coxa valga deformity	0.2	0	0	HPO
1301	COL11A1	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1301	COL11A1	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1301	COL11A1	C3665347	Visual Impairment	0.2	0	0	HPO
1301	COL11A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1301	COL11A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1301	COL11A1	C4021242	Hypoplasia of the zygomatic bone	0.2	0	0	HPO
1301	COL11A1	C4021630	Broad long bones	0.2	0	0	HPO
1301	COL11A1	C4021787	Abnormal diaphysis morphology	0.2	0	0	HPO
1301	COL11A1	C4022181	Meningeal calcification	0.2	0	0	HPO
1301	COL11A1	C4022969	Small proximal tibial epiphyses	0.2	0	0	HPO
1301	COL11A1	C4022970	Small distal femoral epiphysis	0.2	0	0	HPO
1301	COL11A1	C4025045	Irregular proximal tibial epiphyses	0.2	0	0	HPO
1301	COL11A1	C4025050	Irregular distal femoral epiphysis	0.2	0	0	HPO
1301	COL11A1	C4025356	Abnormality of the vitreous humor	0.2	0	0	HPO
1301	COL11A1	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1301	COL11A1	C4025860	Hearing abnormality	0.2	0	0	HPO
1301	COL11A1	C4072823	Broad cranium shape	0.2	0	0	HPO
1301	COL11A1	C4072824	Wide skull shape	0.2	0	0	HPO
1301	COL11A1	C4072879	Small cheekbone	0.2	0	0	HPO
1301	COL11A1	C4082243	Maxillary retrognathia	0.2	0	0	HPO
1301	COL11A1	C4280263	Increased size of permanent maxillary central incisor	0.2	0	0	HPO
1301	COL11A1	C4280320	Hypotrophic midface	0.2	0	0	HPO
1301	COL11A1	C4280321	Decreased projection of midface	0.2	0	0	HPO
1301	COL11A1	C4280368	Hypotrophic cheekbone	0.2	0	0	HPO
1301	COL11A1	C4280369	Flattening of the zygomatic bone	0.2	0	0	HPO
1301	COL11A1	C4280370	Depressed cheekbone	0.2	0	0	HPO
1301	COL11A1	C4280495	Concave bridge of nose	0.2	0	0	HPO
1301	COL11A1	C4280538	Curvature of little finger	0.2	0	0	HPO
1301	COL11A1	C4280548	Hypotrophic frontal sinus	0.2	0	0	HPO
1301	COL11A1	C4280549	Decreased pneumatization of frontal sinus	0.2	0	0	HPO
1301	COL11A1	C4280559	Aplasia of frontal sinus	0.2	0	0	HPO
1301	COL11A1	C4280560	Increased thickness of cranium	0.2	0	0	HPO
1301	COL11A1	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1301	COL11A1	C4280607	Small wings of the pelvic girdle	0.2	0	0	HPO
1301	COL11A1	C4280620	Hypertrophy of permanent maxillary central incisor	0.2	0	0	HPO
1301	COL11A1	C4280621	Hyperplasia of permanent maxillary central incisor	0.2	0	0	HPO
1301	COL11A1	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
1301	COL11A1	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
1301	COL11A1	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
1301	COL11A1	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
1301	COL11A1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1301	COL11A1	C4280678	Posterior displacement of the tongue	0.2	0	0	HPO
1302	COL11A2	C0003862	Arthralgia	0.2	0	0	HPO
1302	COL11A2	C0007302	Cartilage Diseases	0.2	1	0	CTD_human
1302	COL11A2	C0008925	Cleft Palate	0.202956482091714	0	0	HPO
1302	COL11A2	C0009917	Contracture	0.2	0	0	HPO
1302	COL11A2	C0009918	Contracture of joint	0.2	0	0	HPO
1302	COL11A2	C0015300	Exophthalmos	0.2	0	0	HPO
1302	COL11A2	C0015393	Eye Abnormalities	0.2	0	0	HPO
1302	COL11A2	C0015397	Disorder of eye	0.2	0	0	HPO
1302	COL11A2	C0018784	Sensorineural Hearing Loss (disorder)	0.401098907136852	1	1	CTD_human;HPO
1302	COL11A2	C0020534	Orbital separation excessive	0.2	0	0	HPO
1302	COL11A2	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1302	COL11A2	C0024003	Lordosis	0.2	0	0	HPO
1302	COL11A2	C0025990	Micrognathism	0.200274726784213	0	0	HPO
1302	COL11A2	C0025995	Micromelia	0.2	0	0	HPO
1302	COL11A2	C0026034	Microstomia	0.2	0	0	HPO
1302	COL11A2	C0029408	Degenerative polyarthritis	0.203231208875927	0	0	HPO
1302	COL11A2	C0031900	Pierre Robin Syndrome	0.200274726784213	0	0	HPO
1302	COL11A2	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1302	COL11A2	C0037268	Skin Abnormalities	0.2	0	0	HPO
1302	COL11A2	C0037274	Dermatologic disorders	0.2	0	0	HPO
1302	COL11A2	C0155552	Hearing Loss, Mixed Conductive-Sensorineural	0.2	0	0	HPO
1302	COL11A2	C0162298	Joint stiffness	0.2	0	0	HPO
1302	COL11A2	C0206762	Limb Deformities, Congenital	0.2	1	0	CTD_human
1302	COL11A2	C0221357	Brachydactyly	0.2	0	0	HPO
1302	COL11A2	C0239234	Low set ears	0.2	0	0	HPO
1302	COL11A2	C0239479	Round face	0.2	0	0	HPO
1302	COL11A2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1302	COL11A2	C0240543	Bulbous nose	0.2	0	0	HPO
1302	COL11A2	C0265282	Fibrochondrogenesis	0.200274726784213	0	0	ORPHANET
1302	COL11A2	C0267048	Glossoptosis	0.2	0	0	HPO
1302	COL11A2	C0333068	Flexion contracture	0.2	0	0	HPO
1302	COL11A2	C0349588	Short stature	0.2	0	0	HPO
1302	COL11A2	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1302	COL11A2	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1302	COL11A2	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1302	COL11A2	C0426414	Small nose	0.2	0	0	HPO
1302	COL11A2	C0426790	Narrow thorax	0.2	0	0	HPO
1302	COL11A2	C0426817	Short ribs	0.2	0	0	HPO
1302	COL11A2	C0521525	Short neck	0.2	0	0	HPO
1302	COL11A2	C0557874	Global developmental delay	0.2	0	0	HPO
1302	COL11A2	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1302	COL11A2	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1302	COL11A2	C0876973	Infectious disease of lung	0.2	0	0	HPO
1302	COL11A2	C0877165	Short phalanx of finger	0.2	0	0	HPO
1302	COL11A2	C1184923	Lumbar lordosis	0.2	0	0	HPO
1302	COL11A2	C1833328	Enlarged epiphyses	0.2	0	0	HPO
1302	COL11A2	C1834118	Potato nose	0.2	0	0	HPO
1302	COL11A2	C1834954	Coronal cleft vertebrae	0.2	0	0	HPO
1302	COL11A2	C1835121	Premature osteoarthritis	0.2	0	0	HPO
1302	COL11A2	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1302	COL11A2	C1837084	Short metacarpal	0.2	0	0	HPO
1302	COL11A2	C1837482	Thoracic hypoplasia	0.2	0	0	HPO
1302	COL11A2	C1837760	Prominent eyes	0.2	0	0	HPO
1302	COL11A2	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
1302	COL11A2	C1840077	Anteverted nostril	0.2	0	0	HPO
1302	COL11A2	C1842876	Depressed nasal ridge	0.2	0	0	HPO
1302	COL11A2	C1843108	Short hands	0.2	0	0	HPO
1302	COL11A2	C1844704	Platyspondyly	0.2	0	0	HPO
1302	COL11A2	C1845112	Hyperkyphosis	0.2	0	0	HPO
1302	COL11A2	C1846434	Hypoplastic scapulae	0.2	0	0	HPO
1302	COL11A2	C1848488	Pierre Robin syndrome with fetal chondrodysplasia	0.600549453568426	1	1	CTD_human;ORPHANET;UNIPROT
1302	COL11A2	C1848490	Protruding eyes	0.2	0	0	HPO
1302	COL11A2	C1848654	Broad ribs	0.2	0	0	HPO
1302	COL11A2	C1849039	Metaphyseal widening	0.2	0	0	HPO
1302	COL11A2	C1850135	Splayed metaphyses	0.2	0	0	HPO
1302	COL11A2	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1302	COL11A2	C1853242	Midface retrusion	0.2	0	0	HPO
1302	COL11A2	C1854114	Short nose	0.2	0	0	HPO
1302	COL11A2	C1854912	Short tubular bones	0.2	0	0	HPO
1302	COL11A2	C1854928	Protuberant abdomen	0.2	0	0	HPO
1302	COL11A2	C1855310	Megaepiphyseal dwarfism	0.682747267842131	2	3	CTD_human;ORPHANET;UNIPROT
1302	COL11A2	C1855751	Bulbous nasal tip	0.2	0	0	HPO
1302	COL11A2	C1856468	Round, full face	0.2	0	0	HPO
1302	COL11A2	C1856786	Hypoplastic fingernails	0.2	0	0	HPO
1302	COL11A2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1302	COL11A2	C1858085	Malar flattening	0.2	0	0	HPO
1302	COL11A2	C1859111	Enlarged joints	0.2	0	0	HPO
1302	COL11A2	C1859115	Prominent interphalangeal joints	0.2	0	0	HPO
1302	COL11A2	C1859116	Large tarsal bones	0.2	0	0	HPO
1302	COL11A2	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1302	COL11A2	C1859447	Hypoplastic ischia	0.2	0	0	HPO
1302	COL11A2	C1861218	Hypoplastic ilia	0.2	0	0	HPO
1302	COL11A2	C1861481	Stickler syndrome, type 3	0.48	0	0	CTD_human;ORPHANET
1302	COL11A2	C1862425	Prominent globes	0.2	0	0	HPO
1302	COL11A2	C1864746	Deafness, Autosomal Recessive 53	0.400274726784213	2	3	CTD_human;UNIPROT
1302	COL11A2	C1864897	Cognitive delay	0.2	0	0	HPO
1302	COL11A2	C1865014	Long philtrum	0.2	0	0	HPO
1302	COL11A2	C1865030	Hypoplastic pubic bone	0.2	0	0	HPO
1302	COL11A2	C1865186	Bell-shaped thorax	0.2	0	0	HPO
1302	COL11A2	C1866095	Deafness, Autosomal Dominant 13	0.480274726784213	1	2	CTD_human;UNIPROT
1302	COL11A2	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1302	COL11A2	C1866730	Rhizomelia	0.2	0	0	HPO
1302	COL11A2	C2673410	Small midface	0.2	0	0	HPO
1302	COL11A2	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1302	COL11A2	C2749582	Dumbbell-shaped long bones	0.2	0	0	HPO
1302	COL11A2	C2981150	Uranostaphyloschisis	0.200549453568426	0	0	HPO
1302	COL11A2	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1302	COL11A2	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1302	COL11A2	C4020855	Respiratory function loss	0.2	0	0	HPO
1302	COL11A2	C4020875	Mental and motor retardation	0.2	0	0	HPO
1302	COL11A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1302	COL11A2	C4021787	Abnormal diaphysis morphology	0.2	0	0	HPO
1302	COL11A2	C4025261	Aplasia/Hypoplasia of the capital femoral epiphysis	0.2	0	0	HPO
1302	COL11A2	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1302	COL11A2	C4025860	Hearing abnormality	0.2	0	0	HPO
1302	COL11A2	C4280320	Hypotrophic midface	0.2	0	0	HPO
1302	COL11A2	C4280321	Decreased projection of midface	0.2	0	0	HPO
1302	COL11A2	C4280495	Concave bridge of nose	0.2	0	0	HPO
1302	COL11A2	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1302	COL11A2	C4280607	Small wings of the pelvic girdle	0.2	0	0	HPO
1302	COL11A2	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1302	COL11A2	C4280678	Posterior displacement of the tongue	0.2	0	0	HPO
1303	COL12A1	C0006625	Cachexia	0.2	0	0	HPO
1303	COL12A1	C0009917	Contracture	0.2	0	0	HPO
1303	COL12A1	C0009918	Contracture of joint	0.2	0	0	HPO
1303	COL12A1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1303	COL12A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1303	COL12A1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1303	COL12A1	C0026848	Myopathy	0.200549453568426	0	0	HPO
1303	COL12A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1303	COL12A1	C0151786	Muscle Weakness	0.2	0	0	HPO
1303	COL12A1	C0162298	Joint stiffness	0.2	0	0	HPO
1303	COL12A1	C0234146	Absent reflex	0.2	0	0	HPO
1303	COL12A1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1303	COL12A1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1303	COL12A1	C0278124	Absent tendon reflex	0.2	0	0	HPO
1303	COL12A1	C0333068	Flexion contracture	0.2	0	0	HPO
1303	COL12A1	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
1303	COL12A1	C0376175	Bell Palsy	0.2	0	0	HPO
1303	COL12A1	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1303	COL12A1	C0410179	Scleroatonic muscular dystrophy	0.2	0	0	ORPHANET
1303	COL12A1	C0427055	Facial Paresis	0.2	0	0	HPO
1303	COL12A1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1303	COL12A1	C0575158	Kyphoscoliosis deformity of spine	0.2	0	0	HPO
1303	COL12A1	C0699743	Congenital muscular dystrophy (disorder)	0.2	0	0	HPO
1303	COL12A1	C1834674	Bethlem myopathy	0.2	0	0	ORPHANET
1303	COL12A1	C1844820	Range of joint movement increased	0.2	0	0	HPO
1303	COL12A1	C1845112	Hyperkyphosis	0.2	0	0	HPO
1303	COL12A1	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1303	COL12A1	C1854301	Motor delay	0.2	0	0	HPO
1303	COL12A1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1303	COL12A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1303	COL12A1	C4020874	No development of motor milestones	0.2	0	0	HPO
1303	COL12A1	C4225313	BETHLEM MYOPATHY 2	0.2	2	3	UNIPROT
130340	AP1S3	C0030246	Pustulosis of Palms and Soles	0.2	0	0	ORPHANET
130340	AP1S3	C0343055	Generalized pustular psoriasis	0.2	0	0	ORPHANET
130340	AP1S3	C4015235	PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO	0.2	1	2	UNIPROT
1305	COL13A1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1305	COL13A1	C0005745	Blepharoptosis	0.2	0	0	HPO
1305	COL13A1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1305	COL13A1	C0018834	Heartburn	0.2	0	0	HPO
1305	COL13A1	C0025990	Micrognathism	0.2	0	0	HPO
1305	COL13A1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1305	COL13A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1305	COL13A1	C0149725	Lower respiratory tract infection	0.2	0	0	HPO
1305	COL13A1	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
1305	COL13A1	C0232466	Feeding difficulties	0.2	0	0	HPO
1305	COL13A1	C0239234	Low set ears	0.2	0	0	HPO
1305	COL13A1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1305	COL13A1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1305	COL13A1	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
1305	COL13A1	C0751883	Congenital Myasthenic Syndromes, Postsynaptic	0.2	0	0	ORPHANET
1305	COL13A1	C0751884	Congenital Myasthenic Syndromes, Presynaptic	0.2	0	0	ORPHANET
1305	COL13A1	C1301959	Bulbar weakness	0.2	0	0	HPO
1305	COL13A1	C1836038	Poor head control	0.2	0	0	HPO
1305	COL13A1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1305	COL13A1	C3163798	Recurrent lower respiratory tract infection	0.2	0	0	HPO
1305	COL13A1	C3494422	Retrognathia	0.2	0	0	HPO
1305	COL13A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1305	COL13A1	C4082299	Bulbar palsy	0.2	0	0	HPO
130557	ZNF513	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	ORPHANET
130557	ZNF513	C3150879	RETINITIS PIGMENTOSA 58	0.4	1	1	CTD_human;UNIPROT
130749	CPO	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1308	COL17A1	C0002871	Anemia	0.2	0	0	HPO
1308	COL17A1	C0011334	Dental caries	0.2	0	0	HPO
1308	COL17A1	C0020608	Hypodontia	0.2	0	0	HPO
1308	COL17A1	C0030193	Pain	0.2	0	0	HPO
1308	COL17A1	C0085636	Photophobia	0.2	0	0	HPO
1308	COL17A1	C0152227	Excessive tearing	0.2	0	0	HPO
1308	COL17A1	C0162119	Hemoglobin low	0.2	0	0	HPO
1308	COL17A1	C0162154	Atrophic scar	0.2	0	0	HPO
1308	COL17A1	C0221260	Dystrophia unguium	0.2	0	0	HPO
1308	COL17A1	C0241054	Skin bulla	0.2	0	0	HPO
1308	COL17A1	C0265989	Congenital scar	0.2	0	0	HPO
1308	COL17A1	C0265998	ANONYCHIA	0.2	0	0	HPO
1308	COL17A1	C0268374	Adult junctional epidermolysis bullosa (disorder)	0.6	6	7	CTD_human;ORPHANET;UNIPROT
1308	COL17A1	C0282160	Aplasia Cutis Congenita	0.2	0	0	HPO
1308	COL17A1	C0345996	Milium Cyst	0.2	0	0	HPO
1308	COL17A1	C0392163	Corneal erosion	0.2	0	0	HPO
1308	COL17A1	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1308	COL17A1	C0853945	Oral mucosal blistering	0.2	0	0	HPO
1308	COL17A1	C1260926	Abnormal pigmentation	0.2	0	0	HPO
1308	COL17A1	C1274743	Hyperhidrosis Palmaris Et Plantaris	0.2	0	0	HPO
1308	COL17A1	C1834405	Nail dysplasia	0.2	0	0	HPO
1308	COL17A1	C1852150	Fingerprints, Absence of	0.2	0	0	HPO
1308	COL17A1	C1852551	Epithelial Recurrent Erosion Dystrophy	0.400549453568426	1	2	ORPHANET;UNIPROT
1308	COL17A1	C1856953	Palmar hyperhidrosis	0.2	0	0	HPO
1308	COL17A1	C1856954	Plantar hyperkeratosis	0.2	0	0	HPO
1308	COL17A1	C1856963	Fragile nails	0.2	0	0	HPO
1308	COL17A1	C1862863	Sparse body hair	0.2	0	0	HPO
1308	COL17A1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1308	COL17A1	C2220104	Blister of skin	0.2	0	0	HPO
1308	COL17A1	C3806301	Scarring alopecia of scalp	0.2	0	0	HPO
1308	COL17A1	C4020887	Photodysphoria	0.2	0	0	HPO
1308	COL17A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1308	COL17A1	C4280623	Rotting teeth	0.2	0	0	HPO
130814	PQLC3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
130814	PQLC3	C0023903	Liver neoplasms	0.2	1	0	CTD_human
131	ADH7	C0001973	Alcoholic Intoxication, Chronic	0.208869446275143	5	0	PSYGENET
131	ADH7	C0014859	Esophageal Neoplasms	0.202407028523288	1	0	CTD_human
131	ADH7	C0023055	Laryngeal neoplasm	0.202407028523288	1	0	CTD_human
131	ADH7	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
131	ADH7	C0031347	Pharyngeal Neoplasms	0.2	1	0	CTD_human
1311	COMP	C0003862	Arthralgia	0.2	0	0	HPO
1311	COMP	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1311	COMP	C0022410	Joint Instability	0.2	1	0	CTD_human
1311	COMP	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1311	COMP	C0023234	Legg-Calve-Perthes Disease	0.2	0	0	HPO
1311	COMP	C0024003	Lordosis	0.2	0	0	HPO
1311	COMP	C0025995	Micromelia	0.2	0	0	HPO
1311	COMP	C0029408	Degenerative polyarthritis	0.412543208784538	1	0	CTD_human;HPO
1311	COMP	C0029410	Osteoarthritis of hip	0.200274726784213	0	0	HPO
1311	COMP	C0037932	Curvature of spine	0.2	0	0	HPO
1311	COMP	C0086437	Joint laxity	0.2	0	0	HPO
1311	COMP	C0151313	Sensory neuropathy	0.2	0	0	HPO
1311	COMP	C0162298	Joint stiffness	0.2	0	0	HPO
1311	COMP	C0221357	Brachydactyly	0.2	0	0	HPO
1311	COMP	C0231678	Ulnar deviation of the wrist	0.2	0	0	HPO
1311	COMP	C0231712	Waddling gait	0.2	0	0	HPO
1311	COMP	C0241521	Ulnar deviation of hand	0.2	0	0	HPO
1311	COMP	C0264112	Wedging of vertebra	0.2	0	0	HPO
1311	COMP	C0334092	Hamartomatous polyp	0.2	0	0	HPO
1311	COMP	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1311	COMP	C0410538	Pseudoachondroplasia	0.702671298020428	9	14	CTD_human;ORPHANET;UNIPROT
1311	COMP	C0541764	Delayed bone age	0.2	0	0	HPO
1311	COMP	C0544755	Genu varum	0.2	0	0	HPO
1311	COMP	C0546964	Genu recurvatum	0.2	0	0	HPO
1311	COMP	C0575081	Gait abnormality	0.2	0	0	HPO
1311	COMP	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1311	COMP	C0700208	Acquired scoliosis	0.2	0	0	HPO
1311	COMP	C0744333	Gastrointestinal polyps	0.2	0	0	HPO
1311	COMP	C0852866	Cervical cord compression	0.2	0	0	HPO
1311	COMP	C0877165	Short phalanx of finger	0.2	0	0	HPO
1311	COMP	C1184923	Lumbar lordosis	0.2	0	0	HPO
1311	COMP	C1257915	Intestinal Polyposis	0.2	0	0	HPO
1311	COMP	C1836184	Short femoral neck	0.2	0	0	HPO
1311	COMP	C1836308	Generalized joint laxity	0.2	0	0	HPO
1311	COMP	C1837084	Short metacarpal	0.2	0	0	HPO
1311	COMP	C1838280	Epiphyseal dysplasia, multiple, 1	0.681098907136852	9	13	CTD_human;ORPHANET;UNIPROT
1311	COMP	C1839829	Short distal phalanges	0.2	0	0	HPO
1311	COMP	C1842153	Irregular vertebral endplates	0.2	0	0	HPO
1311	COMP	C1843108	Short hands	0.2	0	0	HPO
1311	COMP	C1844704	Platyspondyly	0.2	0	0	HPO
1311	COMP	C1845112	Hyperkyphosis	0.2	0	0	HPO
1311	COMP	C1846439	ODONTOID HYPOPLASIA	0.2	0	0	HPO
1311	COMP	C1846449	Irregular epiphyses	0.2	0	0	HPO
1311	COMP	C1846803	Small epiphyses	0.2	0	0	HPO
1311	COMP	C1848673	Hypoplastic feet	0.2	0	0	HPO
1311	COMP	C1849016	Broad femoral neck	0.2	0	0	HPO
1311	COMP	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
1311	COMP	C1851542	Limited hip movement	0.2	0	0	HPO
1311	COMP	C1854912	Short tubular bones	0.2	0	0	HPO
1311	COMP	C1855665	Ovoid vertebral bodies	0.2	0	0	HPO
1311	COMP	C1856599	Beaked vertebral bodies	0.2	0	0	HPO
1311	COMP	C1856637	Spatulated ribs	0.2	0	0	HPO
1311	COMP	C1857108	Decreased joint mobility	0.2	0	0	HPO
1311	COMP	C1863749	Carpal bone hypoplasia	0.2	0	0	HPO
1311	COMP	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1311	COMP	C1867103	Limited elbow extension	0.2	0	0	HPO
1311	COMP	C1867487	Short-limb dwarfism identifiable during childhood	0.2	0	0	HPO
1311	COMP	C1867494	Fragmented, irregular epiphyses	0.2	0	0	HPO
1311	COMP	C3150077	Short stature, mild	0.2	0	0	HPO
1311	COMP	C3277418	Gastrointestinal hamartomatous polyps	0.2	0	0	HPO
1311	COMP	C3553368	Limited hip extension	0.2	0	0	HPO
1311	COMP	C3553764	Joint hyperflexibility	0.2	0	0	HPO
1311	COMP	C4020838	Relative short stature	0.2	0	0	HPO
1311	COMP	C4020844	Bullet vertebral body	0.2	0	0	HPO
1311	COMP	C4021305	Small epiphyses of the phalanges of the hand	0.2	0	0	HPO
1311	COMP	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1311	COMP	C4021688	Ulnar metaphyseal irregularity	0.2	0	0	HPO
1311	COMP	C4021692	Radial metaphyseal irregularity	0.2	0	0	HPO
1311	COMP	C4021735	Abnormality of the hip bone	0.2	0	0	HPO
1311	COMP	C4022253	Fragmented epiphyses	0.2	0	0	HPO
1311	COMP	C4025401	Irregular carpal bones	0.2	0	0	HPO
1311	COMP	C4025674	Flared femoral metaphysis	0.2	0	0	HPO
1311	COMP	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1311	COMP	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
1311	COMP	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1311	COMP	C4280594	Small wrist bones	0.2	0	0	HPO
131118	DNAJC19	C1857776	3-@METHYLGLUTACONIC ACIDURIA, TYPE V	0.400824180352639	0	0	CTD_human;ORPHANET
131177	FAM3D	C0036341	Schizophrenia	0.2	1	0	CTD_human
1312	COMT	C0001723	Affective Disorders, Psychotic	0.201373633921065	5	0	PSYGENET
1312	COMT	C0001973	Alcoholic Intoxication, Chronic	0.235803669042096	1	0	CTD_human
1312	COMT	C0003706	Arachnodactyly	0.2	0	0	HPO
1312	COMT	C0004352	Autistic Disorder	0.205363510615002	1	0	CTD_human
1312	COMT	C0004936	Mental disorders	0.212846646323386	1	0	CTD_human
1312	COMT	C0005586	Bipolar Disorder	0.462030381148353	6	0	CTD_human;PSYGENET
1312	COMT	C0005587	Depression, Bipolar	0.200274726784213	2	0	PSYGENET
1312	COMT	C0005745	Blepharoptosis	0.2	0	0	HPO
1312	COMT	C0008925	Cleft Palate	0.2	0	0	HPO
1312	COMT	C0009241	Cognition Disorders	0.203021994626344	1	0	CTD_human
1312	COMT	C0009806	Constipation	0.202407028523288	0	0	HPO
1312	COMT	C0011334	Dental caries	0.2	0	0	HPO
1312	COMT	C0011570	Mental Depression	0.240148140432193	5	0	PSYGENET
1312	COMT	C0011581	Depressive disorder	0.211263798152737	5	0	PSYGENET
1312	COMT	C0012236	DiGeorge Syndrome	0.436064040448992	1	0	CTD_human;ORPHANET
1312	COMT	C0015934	Fetal Growth Retardation	0.202407028523288	1	0	CTD_human
1312	COMT	C0018777	Conductive hearing loss	0.2	0	0	HPO
1312	COMT	C0018817	Atrial Septal Defects	0.200274726784213	0	0	HPO
1312	COMT	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1312	COMT	C0020598	Hypocalcemia	0.2	0	0	HPO
1312	COMT	C0020626	Hypoparathyroidism	0.2	0	0	HPO
1312	COMT	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1312	COMT	C0024667	Animal Mammary Neoplasms	0.202407028523288	1	0	CTD_human
1312	COMT	C0024809	Marijuana Abuse	0.215397376561627	3	0	PSYGENET
1312	COMT	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1312	COMT	C0026827	Muscle hypotonia	0.2	0	0	HPO
1312	COMT	C0026858	Musculoskeletal Pain	0.2	1	0	CTD_human
1312	COMT	C0030193	Pain	0.25223611893757	1	0	CTD_human
1312	COMT	C0030319	Panic Disorder	0.243229383241211	0	0	CTD_human
1312	COMT	C0031511	Pheochromocytoma	0.200274726784213	1	0	CTD_human
1312	COMT	C0032209	Platybasia	0.2	0	0	HPO
1312	COMT	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1312	COMT	C0036341	Schizophrenia	0.431428963895406	4	1	CTD_human
1312	COMT	C0036508	Seborrheic dermatitis	0.2	0	0	HPO
1312	COMT	C0039494	Temporomandibular Joint Disorders	0.207561324888707	1	0	CTD_human
1312	COMT	C0039621	Tetany	0.2	0	0	HPO
1312	COMT	C0039685	Tetralogy of Fallot	0.200274726784213	0	0	HPO
1312	COMT	C0041696	Unipolar Depression	0.208241803526393	5	0	PSYGENET
1312	COMT	C0085109	Corneal Neovascularization	0.2	0	0	HPO
1312	COMT	C0086133	Depressive Syndrome	0.200274726784213	1	0	PSYGENET
1312	COMT	C0178417	Anhedonia	0.200274726784213	1	0	PSYGENET
1312	COMT	C0220704	Shprintzen syndrome	0.208176290991763	0	0	ORPHANET
1312	COMT	C0231528	Myalgia	0.200274726784213	0	0	HPO
1312	COMT	C0233477	Dysphoric mood	0.200549453568426	2	0	PSYGENET
1312	COMT	C0236733	Amphetamine-Related Disorders	0.202407028523288	1	0	CTD_human
1312	COMT	C0236736	Cocaine-Related Disorders	0.202407028523288	1	0	CTD_human
1312	COMT	C0237326	Dyschezia	0.2	0	0	HPO
1312	COMT	C0239234	Low set ears	0.2	0	0	HPO
1312	COMT	C0240543	Bulbous nose	0.2	0	0	HPO
1312	COMT	C0266295	Congenital hypoplasia of kidney	0.2	0	0	HPO
1312	COMT	C0271441	Chronic otitis media	0.2	0	0	HPO
1312	COMT	C0344531	Embryotoxon	0.2	0	0	HPO
1312	COMT	C0349588	Short stature	0.2	0	0	HPO
1312	COMT	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
1312	COMT	C0423113	Telecanthus	0.2	0	0	HPO
1312	COMT	C0454555	Hypernasal voice	0.2	0	0	HPO
1312	COMT	C0521525	Short neck	0.2	0	0	HPO
1312	COMT	C0525045	Mood Disorders	0.212766778411439	5	0	PSYGENET
1312	COMT	C0546967	Posterior embryotoxon	0.2	0	0	HPO
1312	COMT	C0557874	Global developmental delay	0.2	0	0	HPO
1312	COMT	C0566620	Nasal voice	0.2	0	0	HPO
1312	COMT	C0600427	Cocaine Dependence	0.200549453568426	3	0	PSYGENET
1312	COMT	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1312	COMT	C0685891	Congenital hypoplasia of thymus	0.2	0	0	HPO
1312	COMT	C0702166	Acne	0.2	0	0	HPO
1312	COMT	C0743359	ear infection chronic	0.2	0	0	HPO
1312	COMT	C0795907	CONOTRUNCAL ANOMALY FACE SYNDROME	0.2	0	0	ORPHANET
1312	COMT	C0973461	Dysphasia	0.2	0	0	HPO
1312	COMT	C1263846	Attention deficit hyperactivity disorder	0.457337579414052	1	0	CTD_human;HPO
1312	COMT	C1269683	Major Depressive Disorder	0.217986587311488	5	0	PSYGENET
1312	COMT	C1306067	Drug-induced paranoid state	0.2	1	0	PSYGENET
1312	COMT	C1458155	Mammary Neoplasms	0.224270328241798	3	0	CTD_human
1312	COMT	C1834118	Potato nose	0.2	0	0	HPO
1312	COMT	C1836047	Long face	0.2	0	0	HPO
1312	COMT	C1837731	Overfolded helix	0.2	0	0	HPO
1312	COMT	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1312	COMT	C1842680	Hypoplastic lobules	0.2	0	0	HPO
1312	COMT	C1849367	Nasal bridge wide	0.2	0	0	HPO
1312	COMT	C1854113	Prominent nasal bridge	0.2	0	0	HPO
1312	COMT	C1855751	Bulbous nasal tip	0.2	0	0	HPO
1312	COMT	C1858085	Malar flattening	0.2	0	0	HPO
1312	COMT	C1860127	Impaired T cell function	0.2	0	0	HPO
1312	COMT	C1864897	Cognitive delay	0.2	0	0	HPO
1312	COMT	C1865014	Long philtrum	0.2	0	0	HPO
1312	COMT	C2239176	Liver carcinoma	0.200549453568426	1	0	CTD_human
1312	COMT	C2750088	HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO	0.2	1	0	CTD_human
1312	COMT	C2936346	22q11 Deletion Syndrome	0.204055389228567	0	0	ORPHANET
1312	COMT	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1312	COMT	C3160814	Cannabis use	0.2	2	0	PSYGENET
1312	COMT	C3163801	Abnormality of aortic arch	0.2	0	0	HPO
1312	COMT	C3164374	Abnormality of pulmonary valve	0.2	0	0	HPO
1312	COMT	C3266101	22q11 partial monosomy syndrome	0.2	0	0	ORPHANET
1312	COMT	C3806554	Dysseborrheic dermatitis	0.2	0	0	HPO
1312	COMT	C4020867	Persistant truncus arteriosus	0.2	0	0	HPO
1312	COMT	C4020875	Mental and motor retardation	0.2	0	0	HPO
1312	COMT	C4021975	Abnormality of the tonsils	0.2	0	0	HPO
1312	COMT	C4024912	Occipital myelomeningocele	0.2	0	0	HPO
1312	COMT	C4025790	Specific learning disability	0.2	0	0	HPO
1312	COMT	C4025838	Abnormality of the pharynx	0.2	0	0	HPO
1312	COMT	C4228227	Small thymus	0.2	0	0	HPO
1312	COMT	C4230640	Convex nasal bridge	0.2	0	0	HPO
1312	COMT	C4280623	Rotting teeth	0.2	0	0	HPO
1312	COMT	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
131377	KLHL40	C3809209	NEMALINE MYOPATHY 8	0.28	1	9	UNIPROT
1314	COPA	C0003864	Arthritis	0.200274726784213	1	0	CTD_human
1314	COPA	C0004364	Autoimmune Diseases	0.2	1	0	CTD_human
1314	COPA	C0206062	Lung Diseases, Interstitial	0.2	1	0	CTD_human
1314	COPA	C4225334	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE	0.4	1	4	ORPHANET;UNIPROT
131450	CD200R1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
131566	DCBLD2	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
131566	DCBLD2	C0038356	Stomach Neoplasms	0.202732912464814	1	0	CTD_human
131583	FAM43A	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1316	KLF6	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1316	KLF6	C0033578	Prostatic Neoplasms	0.231160944249804	0	0	CTD_human
1316	KLF6	C0038356	Stomach Neoplasms	0.20754696951139	0	0	CTD_human
1316	KLF6	C0376358	Malignant neoplasm of prostate	0.213055860572969	0	0	HPO
1316	KLF6	C0544886	Somatic mutation	0.2	0	0	HPO
1316	KLF6	C0699791	Stomach Carcinoma	0.201648360705279	0	0	HPO
131669	UROC1	C0004134	Ataxia	0.2	1	0	CTD_human
131669	UROC1	C0268514	Urocanase deficiency	0.600274726784213	1	2	CTD_human;ORPHANET;UNIPROT
131669	UROC1	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
1317	SLC31A1	C0000768	Congenital Abnormality	0.2	1	0	CTD_human
1317	SLC31A1	C0020542	Pulmonary Hypertension	0.2	1	0	CTD_human
1317	SLC31A1	C0023904	Liver Neoplasms, Experimental	0.2	1	0	CTD_human
1317	SLC31A1	C0027540	Necrosis	0.2	1	0	CTD_human
1317	SLC31A1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1317	SLC31A1	C0677050	Manganese Poisoning	0.2	1	0	CTD_human
1317	SLC31A1	C0752351	Embryo Loss	0.2	1	0	CTD_human
1317	SLC31A1	C3714756	Intellectual Disability	0.2	1	0	CTD_human
131870	NUDT16	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
131965	METTL6	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
132	ADK	C0008370	Cholestasis	0.2	0	0	HPO
132	ADK	C0014544	Epilepsy	0.201373633921065	0	0	HPO
132	ADK	C0020534	Orbital separation excessive	0.2	0	0	HPO
132	ADK	C0023012	Language Delay	0.2	0	0	HPO
132	ADK	C0026827	Muscle hypotonia	0.2	0	0	HPO
132	ADK	C0036341	Schizophrenia	0.2	1	0	PSYGENET
132	ADK	C0036572	Seizures	0.201373633921065	0	0	HPO
132	ADK	C0086565	Liver Dysfunction	0.2	0	0	HPO
132	ADK	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
132	ADK	C0154671	Degenerative brain disorder	0.2	0	0	HPO
132	ADK	C0221354	Frontal bossing	0.2	0	0	HPO
132	ADK	C0231246	Failure to gain weight	0.2	0	0	HPO
132	ADK	C0232744	Decreased liver function	0.2	0	0	HPO
132	ADK	C0233715	Speech impairment	0.2	0	0	HPO
132	ADK	C0234958	muscle degeneration	0.2	0	0	HPO
132	ADK	C0235946	Cerebral atrophy	0.2	0	0	HPO
132	ADK	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
132	ADK	C0241210	Speech Delay	0.2	0	0	HPO
132	ADK	C0242184	Hypoxia	0.2	1	0	CTD_human
132	ADK	C0268621	Hepatic methionine adenosyltransferase deficiency	0.200274726784213	0	0	HPO
132	ADK	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
132	ADK	C0311468	Increased bilirubin level (finding)	0.2	0	0	HPO
132	ADK	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
132	ADK	C0438717	Transaminases increased	0.2	0	0	HPO
132	ADK	C0454644	Delayed speech and language development	0.2	0	0	HPO
132	ADK	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
132	ADK	C0557874	Global developmental delay	0.2	0	0	HPO
132	ADK	C0576227	Narrow foot	0.2	0	0	HPO
132	ADK	C0877359	Liver function test increased	0.2	0	0	HPO
132	ADK	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
132	ADK	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
132	ADK	C1848207	Poor speech	0.2	0	0	HPO
132	ADK	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
132	ADK	C1848924	Infantile onset	0.2	0	0	HPO
132	ADK	C1864897	Cognitive delay	0.2	0	0	HPO
132	ADK	C1864985	Progressive disorder	0.2	0	0	HPO
132	ADK	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
132	ADK	C2677002	Portal fibrosis shown on biopsy	0.2	0	0	HPO
132	ADK	C2711227	Steatohepatitis	0.2	0	0	HPO
132	ADK	C3279149	Liver dysfunction, mild	0.2	0	0	HPO
132	ADK	C3280381	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	0.6	1	3	CTD_human;ORPHANET;UNIPROT
132	ADK	C3714756	Intellectual Disability	0.2	1	0	CTD_human
132	ADK	C3805083	Portal fibrosis	0.2	0	0	HPO
132	ADK	C4020860	Supratentorial atrophy	0.2	0	0	HPO
132	ADK	C4020875	Mental and motor retardation	0.2	0	0	HPO
132	ADK	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
132	ADK	C4083076	Increased head circumference	0.2	0	0	HPO
132	ADK	C4255213	Increased size of skull	0.2	0	0	HPO
132	ADK	C4280574	Problems speaking	0.2	0	0	HPO
132	ADK	C4280663	Increased size of cranium	0.2	0	0	HPO
132	ADK	C4280664	Big calvaria	0.2	0	0	HPO
132158	GLYCTK	C0342765	D-Glyceric aciduria	0.200274726784213	1	1	UNIPROT
132158	GLYCTK	C1291386	D-glycericacidemia	0.200274726784213	0	0	ORPHANET
1326	MAP3K8	C0007120	Bronchioloalveolar Adenocarcinoma	0.2	0	0	HPO
1326	MAP3K8	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1326	MAP3K8	C0024121	Lung Neoplasms	0.203007639249027	0	0	CTD_human
1326	MAP3K8	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1326	MAP3K8	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
132789	GNPDA2	C0005910	Body Weight	0.2	1	0	CTD_human
132789	GNPDA2	C0028754	Obesity	0.234313365429088	1	0	CTD_human
132884	EVC2	C0013903	Ellis-Van Creveld Syndrome	0.69013618026125	2	12	CTD_human;ORPHANET;UNIPROT
132884	EVC2	C0457013	Weyers acrofacial dysostosis	0.201098907136852	0	0	ORPHANET
1329	COX5B	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
133	ADM	C0004352	Autistic Disorder	0.2	1	0	CTD_human
133	ADM	C0005586	Bipolar Disorder	0.2	3	0	PSYGENET
133	ADM	C0017658	Glomerulonephritis	0.200274726784213	2	0	CTD_human
133	ADM	C0020429	Hyperalgesia	0.2	1	0	CTD_human
133	ADM	C0023893	Liver Cirrhosis, Experimental	0.2	2	0	CTD_human
133	ADM	C0030193	Pain	0.2	1	0	CTD_human
133	ADM	C0036341	Schizophrenia	0.208422307021342	2	0	PSYGENET
133	ADM	C0038358	Gastric ulcer	0.2	1	0	CTD_human
133	ADM	C0243026	Sepsis	0.292580010564534	1	0	CTD_human
133396	IL31RA	C0268398	Familial lichen amyloidosis	0.200274726784213	0	0	ORPHANET
133396	IL31RA	C3151404	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2	0.2	1	0	UNIPROT
133418	EMB	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
133418	EMB	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
133522	PPARGC1B	C0020473	Hyperlipidemia	0.2	1	0	CTD_human
133522	PPARGC1B	C0028754	Obesity	0.205429023149632	0	0	CTD_human
133522	PPARGC1B	C1458155	Mammary Neoplasms	0.202732912464814	1	0	CTD_human
133686	NADK2	C1857252	2,4-Dienoyl-CoA Reductase Deficiency	0.2	0	0	ORPHANET
1337	COX6A1	C0085684	Foot-drop	0.2	0	0	HPO
1337	COX6A1	C0234146	Absent reflex	0.2	0	0	HPO
1337	COX6A1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1337	COX6A1	C0278124	Absent tendon reflex	0.2	0	0	HPO
1337	COX6A1	C0427149	Gait, Drop Foot	0.2	0	0	HPO
1337	COX6A1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1337	COX6A1	C0728829	Congenital pes cavus	0.2	0	0	HPO
1337	COX6A1	C1847584	Distal sensory impairment	0.2	0	0	HPO
1337	COX6A1	C1847906	Onion bulb formation	0.2	0	0	HPO
1337	COX6A1	C1854494	Slow progression	0.2	0	0	HPO
1337	COX6A1	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
1337	COX6A1	C4015029	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	0.28	0	0	ORPHANET
1337	COX6A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
134	ADORA1	C0007370	Catalepsy	0.2	1	0	CTD_human
134	ADORA1	C0007787	Transient Ischemic Attack	0.2	1	0	CTD_human
134	ADORA1	C0013182	Drug Allergy	0.202407028523288	1	0	CTD_human
134	ADORA1	C0020649	Hypotension	0.2	2	0	CTD_human
134	ADORA1	C0022116	Ischemia	0.2	1	0	CTD_human
134	ADORA1	C0027051	Myocardial Infarction	0.202407028523288	1	0	CTD_human
134	ADORA1	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
134	ADORA1	C0033054	Prenatal Exposure Delayed Effects	0.2	1	0	CTD_human
134	ADORA1	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
134	ADORA1	C0038525	Subarachnoid Hemorrhage	0.2	1	0	CTD_human
134	ADORA1	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
134	ADORA1	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
134	ADORA1	C0242973	Ventricular Dysfunction	0.2	1	0	CTD_human
134	ADORA1	C0428977	Bradycardia	0.2	1	0	CTD_human
134	ADORA1	C0740392	Infarction, Middle Cerebral Artery	0.2	1	0	CTD_human
1340	COX6B1	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1340	COX6B1	C0002871	Anemia	0.2	0	0	HPO
1340	COX6B1	C0005745	Blepharoptosis	0.2	0	0	HPO
1340	COX6B1	C0007194	Hypertrophic Cardiomyopathy	0.2	0	0	HPO
1340	COX6B1	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1340	COX6B1	C0014544	Epilepsy	0.2	0	0	HPO
1340	COX6B1	C0017979	Glycosuria	0.2	0	0	HPO
1340	COX6B1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1340	COX6B1	C0019209	Hepatomegaly	0.2	0	0	HPO
1340	COX6B1	C0025362	Mental Retardation	0.2	0	0	HPO
1340	COX6B1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1340	COX6B1	C0029124	Optic Atrophy	0.2	0	0	HPO
1340	COX6B1	C0033687	Proteinuria	0.2	0	0	HPO
1340	COX6B1	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1340	COX6B1	C0036572	Seizures	0.2	0	0	HPO
1340	COX6B1	C0086565	Liver Dysfunction	0.2	0	0	HPO
1340	COX6B1	C0151747	Renal tubular disorder	0.2	0	0	HPO
1340	COX6B1	C0162119	Hemoglobin low	0.2	0	0	HPO
1340	COX6B1	C0231246	Failure to gain weight	0.2	0	0	HPO
1340	COX6B1	C0231807	Dyspnea on exertion	0.2	0	0	HPO
1340	COX6B1	C0232744	Decreased liver function	0.2	0	0	HPO
1340	COX6B1	C0238621	Aminoaciduria	0.2	0	0	HPO
1340	COX6B1	C0268079	Hyperphosphaturia	0.2	0	0	HPO
1340	COX6B1	C0268237	Cytochrome-c Oxidase Deficiency	0.6	1	2	CTD_human;ORPHANET;UNIPROT
1340	COX6B1	C0341703	Adult Fanconi syndrome	0.2	0	0	HPO
1340	COX6B1	C0347959	Lactic acidemia	0.2	0	0	HPO
1340	COX6B1	C0423903	Low intelligence	0.2	0	0	HPO
1340	COX6B1	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
1340	COX6B1	C0476273	Respiratory distress	0.2	0	0	HPO
1340	COX6B1	C0557874	Global developmental delay	0.2	0	0	HPO
1340	COX6B1	C0917816	Mental deficiency	0.2	0	0	HPO
1340	COX6B1	C0948023	Urine phosphorous concentration above normal	0.2	0	0	HPO
1340	COX6B1	C1167918	CSF lactate increased	0.2	0	0	HPO
1340	COX6B1	C1836440	Increased serum lactate	0.2	0	0	HPO
1340	COX6B1	C1843367	Poor school performance	0.2	0	0	HPO
1340	COX6B1	C1854301	Motor delay	0.2	0	0	HPO
1340	COX6B1	C1864897	Cognitive delay	0.2	0	0	HPO
1340	COX6B1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1340	COX6B1	C3279149	Liver dysfunction, mild	0.2	0	0	HPO
1340	COX6B1	C3714756	Intellectual Disability	0.2	0	0	HPO
1340	COX6B1	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1340	COX6B1	C4020730	Increased intramyocellular lipid droplets	0.2	0	0	HPO
1340	COX6B1	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
1340	COX6B1	C4020874	No development of motor milestones	0.2	0	0	HPO
1340	COX6B1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1340	COX6B1	C4020876	Dull intelligence	0.2	0	0	HPO
1340	COX6B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1340	COX6B1	C4021724	Decreased activity of cytochrome C oxidase in muscle tissue	0.2	0	0	HPO
1340	COX6B1	C4025021	Increased hepatocellular lipid droplets	0.2	0	0	HPO
134430	WDR36	C0004096	Asthma	0.202681755307501	1	0	CTD_human
134430	WDR36	C0339573	Glaucoma, Primary Open Angle	0.205494535684262	0	0	CTD_human
134430	WDR36	C1835933	Glaucoma 1, Open Angle, G	0.4	1	2	CTD_human;UNIPROT
134701	RIPPLY2	C0265343	Jarcho-Levin syndrome	0.2	0	0	ORPHANET
134728	IRAK1BP1	C1527336	Sjogren's Syndrome	0.2	1	0	CTD_human
134829	CLVS2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1349	COX7B	C0020534	Orbital separation excessive	0.2	0	0	HPO
1349	COX7B	C0265989	Congenital scar	0.2	0	0	HPO
1349	COX7B	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1349	COX7B	C0282160	Aplasia Cutis Congenita	0.2	0	0	HPO
1349	COX7B	C0349588	Short stature	0.2	0	0	HPO
1349	COX7B	C0424503	Dysmorphic facies	0.2	0	0	HPO
1349	COX7B	C0424688	Small head	0.2	0	0	HPO
1349	COX7B	C0557874	Global developmental delay	0.2	0	0	HPO
1349	COX7B	C0796070	MICROPHTHALMIA, SYNDROMIC 7	0.200549453568426	0	0	ORPHANET
1349	COX7B	C1385263	facial deformity	0.2	0	0	HPO
1349	COX7B	C1839323	Small chin	0.2	0	0	HPO
1349	COX7B	C1847879	X-linked dominant	0.2	0	0	HPO
1349	COX7B	C1864897	Cognitive delay	0.2	0	0	HPO
1349	COX7B	C3697248	Short lower third of face	0.2	0	0	HPO
1349	COX7B	C4020875	Mental and motor retardation	0.2	0	0	HPO
1349	COX7B	C4072832	Distortion of face	0.2	0	0	HPO
1349	COX7B	C4072833	Funny looking face	0.2	0	0	HPO
1350	COX7C	C0028754	Obesity	0.2	1	0	CTD_human
1351	COX8A	C0001969	Alcoholic Intoxication	0.2	1	0	PSYGENET
1351	COX8A	C0268237	Cytochrome-c Oxidase Deficiency	0.201098907136852	0	0	ORPHANET
135138	PACRG	C0023343	Leprosy	0.207286598104494	0	0	CTD_human
135152	B3GAT2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1352	COX10	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1352	COX10	C0002871	Anemia	0.200274726784213	0	0	HPO
1352	COX10	C0005745	Blepharoptosis	0.2	0	0	HPO
1352	COX10	C0007194	Hypertrophic Cardiomyopathy	0.2	0	0	HPO
1352	COX10	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1352	COX10	C0013362	Dysarthria	0.2	0	0	HPO
1352	COX10	C0013421	Dystonia	0.2	0	0	HPO
1352	COX10	C0014544	Epilepsy	0.2	0	0	HPO
1352	COX10	C0017639	Gliosis	0.2	0	0	HPO
1352	COX10	C0017979	Glycosuria	0.2	0	0	HPO
1352	COX10	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1352	COX10	C0019209	Hepatomegaly	0.2	0	0	HPO
1352	COX10	C0020555	Hypertrichosis	0.2	0	0	HPO
1352	COX10	C0025362	Mental Retardation	0.2	0	0	HPO
1352	COX10	C0026827	Muscle hypotonia	0.2	0	0	HPO
1352	COX10	C0026838	Muscle Spasticity	0.2	0	0	HPO
1352	COX10	C0028738	Nystagmus	0.2	0	0	HPO
1352	COX10	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1352	COX10	C0029124	Optic Atrophy	0.2	0	0	HPO
1352	COX10	C0033687	Proteinuria	0.2	0	0	HPO
1352	COX10	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1352	COX10	C0036572	Seizures	0.2	0	0	HPO
1352	COX10	C0038379	Strabismus	0.2	0	0	HPO
1352	COX10	C0085633	Mood swings	0.2	0	0	HPO
1352	COX10	C0086565	Liver Dysfunction	0.2	0	0	HPO
1352	COX10	C0151747	Renal tubular disorder	0.2	0	0	HPO
1352	COX10	C0151889	Hyperreflexia	0.2	0	0	HPO
1352	COX10	C0162119	Hemoglobin low	0.2	0	0	HPO
1352	COX10	C0231246	Failure to gain weight	0.2	0	0	HPO
1352	COX10	C0231807	Dyspnea on exertion	0.2	0	0	HPO
1352	COX10	C0232744	Decreased liver function	0.2	0	0	HPO
1352	COX10	C0238621	Aminoaciduria	0.2	0	0	HPO
1352	COX10	C0268079	Hyperphosphaturia	0.2	0	0	HPO
1352	COX10	C0268237	Cytochrome-c Oxidase Deficiency	0.481098907136852	3	6	ORPHANET;UNIPROT
1352	COX10	C0338474	Central nervous system demyelination	0.2	0	0	HPO
1352	COX10	C0341703	Adult Fanconi syndrome	0.2	0	0	HPO
1352	COX10	C0347959	Lactic acidemia	0.2	0	0	HPO
1352	COX10	C0423903	Low intelligence	0.2	0	0	HPO
1352	COX10	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
1352	COX10	C0476273	Respiratory distress	0.2	0	0	HPO
1352	COX10	C0557874	Global developmental delay	0.2	0	0	HPO
1352	COX10	C0917816	Mental deficiency	0.2	0	0	HPO
1352	COX10	C0948023	Urine phosphorous concentration above normal	0.2	0	0	HPO
1352	COX10	C1145670	Respiratory Failure	0.2	0	0	HPO
1352	COX10	C1167918	CSF lactate increased	0.2	0	0	HPO
1352	COX10	C1836440	Increased serum lactate	0.2	0	0	HPO
1352	COX10	C1837388	Abnormal respiratory patterns	0.2	0	0	HPO
1352	COX10	C1837514	Phenotypic variability	0.2	0	0	HPO
1352	COX10	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1352	COX10	C1843367	Poor school performance	0.2	0	0	HPO
1352	COX10	C1848924	Infantile onset	0.2	0	0	HPO
1352	COX10	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1352	COX10	C1854301	Motor delay	0.2	0	0	HPO
1352	COX10	C1855038	Hepatocellular necrosis	0.2	0	0	HPO
1352	COX10	C1864897	Cognitive delay	0.2	0	0	HPO
1352	COX10	C1864985	Progressive disorder	0.2	0	0	HPO
1352	COX10	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1352	COX10	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1352	COX10	C3279149	Liver dysfunction, mild	0.2	0	0	HPO
1352	COX10	C3714756	Intellectual Disability	0.2	0	0	HPO
1352	COX10	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1352	COX10	C4020730	Increased intramyocellular lipid droplets	0.2	0	0	HPO
1352	COX10	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
1352	COX10	C4020871	Dystonic disease	0.2	0	0	HPO
1352	COX10	C4020874	No development of motor milestones	0.2	0	0	HPO
1352	COX10	C4020875	Mental and motor retardation	0.2	0	0	HPO
1352	COX10	C4020876	Dull intelligence	0.2	0	0	HPO
1352	COX10	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1352	COX10	C4021724	Decreased activity of cytochrome C oxidase in muscle tissue	0.2	0	0	HPO
1352	COX10	C4025021	Increased hepatocellular lipid droplets	0.2	0	0	HPO
135228	CD109	C0009404	Colorectal Neoplasms	0.2	2	0	CTD_human
135228	CD109	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
135228	CD109	C3854603	FNAITP	0.2	0	0	ORPHANET
1355	COX15	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1355	COX15	C0005745	Blepharoptosis	0.2	0	0	HPO
1355	COX15	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1355	COX15	C0013362	Dysarthria	0.2	0	0	HPO
1355	COX15	C0013421	Dystonia	0.2	0	0	HPO
1355	COX15	C0014544	Epilepsy	0.2	0	0	HPO
1355	COX15	C0017639	Gliosis	0.2	0	0	HPO
1355	COX15	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1355	COX15	C0020555	Hypertrichosis	0.2	0	0	HPO
1355	COX15	C0023264	Leigh Disease	0.60328236603324	1	2	CTD_human;ORPHANET;UNIPROT
1355	COX15	C0025362	Mental Retardation	0.2	0	0	HPO
1355	COX15	C0026827	Muscle hypotonia	0.2	0	0	HPO
1355	COX15	C0026838	Muscle Spasticity	0.2	0	0	HPO
1355	COX15	C0028738	Nystagmus	0.2	0	0	HPO
1355	COX15	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1355	COX15	C0029124	Optic Atrophy	0.2	0	0	HPO
1355	COX15	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1355	COX15	C0036572	Seizures	0.2	0	0	HPO
1355	COX15	C0038379	Strabismus	0.2	0	0	HPO
1355	COX15	C0085584	Encephalopathies	0.2	0	0	HPO
1355	COX15	C0085633	Mood swings	0.2	0	0	HPO
1355	COX15	C0151889	Hyperreflexia	0.2	0	0	HPO
1355	COX15	C0231246	Failure to gain weight	0.2	0	0	HPO
1355	COX15	C0235659	Reduced fetal movement	0.2	0	0	HPO
1355	COX15	C0338474	Central nervous system demyelination	0.2	0	0	HPO
1355	COX15	C0347959	Lactic acidemia	0.2	0	0	HPO
1355	COX15	C0423903	Low intelligence	0.2	0	0	HPO
1355	COX15	C0424688	Small head	0.2	0	0	HPO
1355	COX15	C0557874	Global developmental delay	0.2	0	0	HPO
1355	COX15	C0917816	Mental deficiency	0.2	0	0	HPO
1355	COX15	C1145670	Respiratory Failure	0.2	0	0	HPO
1355	COX15	C1167918	CSF lactate increased	0.2	0	0	HPO
1355	COX15	C1836440	Increased serum lactate	0.2	0	0	HPO
1355	COX15	C1837388	Abnormal respiratory patterns	0.2	0	0	HPO
1355	COX15	C1837514	Phenotypic variability	0.2	0	0	HPO
1355	COX15	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1355	COX15	C1843367	Poor school performance	0.2	0	0	HPO
1355	COX15	C1848924	Infantile onset	0.2	0	0	HPO
1355	COX15	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1355	COX15	C1855038	Hepatocellular necrosis	0.2	0	0	HPO
1355	COX15	C1864897	Cognitive delay	0.2	0	0	HPO
1355	COX15	C1864985	Progressive disorder	0.2	0	0	HPO
1355	COX15	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1355	COX15	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1355	COX15	C2711227	Steatohepatitis	0.2	0	0	HPO
1355	COX15	C3554534	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2	0.2	3	1	UNIPROT
1355	COX15	C3714756	Intellectual Disability	0.2	0	0	HPO
1355	COX15	C4020871	Dystonic disease	0.2	0	0	HPO
1355	COX15	C4020875	Mental and motor retardation	0.2	0	0	HPO
1355	COX15	C4020876	Dull intelligence	0.2	0	0	HPO
1355	COX15	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1355	COX15	C4273730	Fatal infantile cytochrome C oxidase deficiency	0.2	0	0	ORPHANET
1356	CP	C0001925	Albuminuria	0.2	1	0	CTD_human
1356	CP	C0002871	Anemia	0.201373633921065	0	0	HPO
1356	CP	C0002893	Refractory anemias	0.200274726784213	0	0	HPO
1356	CP	C0003873	Rheumatoid Arthritis	0.203007639249027	1	0	CTD_human
1356	CP	C0004134	Ataxia	0.2	1	0	CTD_human
1356	CP	C0004352	Autistic Disorder	0.200274726784213	1	0	CTD_human
1356	CP	C0005747	Blepharospasm	0.200274726784213	0	0	HPO
1356	CP	C0006111	Brain Diseases	0.2	1	0	CTD_human
1356	CP	C0007758	Cerebellar Ataxia	0.200274726784213	0	0	HPO
1356	CP	C0008489	Chorea	0.2	0	0	HPO
1356	CP	C0009375	Colonic Neoplasms	0.202732912464814	1	0	CTD_human
1356	CP	C0011581	Depressive disorder	0.2	0	0	HPO
1356	CP	C0011849	Diabetes Mellitus	0.404106546385879	1	0	CTD_human;HPO
1356	CP	C0011854	Diabetes Mellitus, Insulin-Dependent	0.202681755307501	1	0	CTD_human
1356	CP	C0012715	Iron Metabolism Disorders	0.200824180352639	1	0	CTD_human
1356	CP	C0013362	Dysarthria	0.200549453568426	0	0	HPO
1356	CP	C0013384	Dyskinetic syndrome	0.2	1	0	CTD_human
1356	CP	C0015371	Extrapyramidal Disorders	0.200274726784213	0	0	HPO
1356	CP	C0018995	Hemochromatosis	0.20328236603324	1	0	CTD_human
1356	CP	C0019189	Hepatitis, Chronic	0.200274726784213	1	0	CTD_human
1356	CP	C0019202	Hepatolenticular Degeneration	0.211263798152737	3	0	CTD_human
1356	CP	C0022116	Ischemia	0.2	2	0	CTD_human
1356	CP	C0022716	Menkes Kinky Hair Syndrome	0.200824180352639	1	0	CTD_human
1356	CP	C0023012	Language Delay	0.2	0	0	HPO
1356	CP	C0023890	Liver Cirrhosis	0.2	2	0	CTD_human
1356	CP	C0023904	Liver Neoplasms, Experimental	0.2	1	0	CTD_human
1356	CP	C0025202	melanoma	0.2	1	0	CTD_human
1356	CP	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1356	CP	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1356	CP	C0030567	Parkinson Disease	0.215210608714722	2	0	CTD_human
1356	CP	C0032914	Pre-Eclampsia	0.202732912464814	1	0	CTD_human
1356	CP	C0033860	Psoriasis	0.2	1	0	CTD_human
1356	CP	C0035304	Retinal Degeneration	0.4	1	0	CTD_human;HPO
1356	CP	C0036341	Schizophrenia	0.2	1	0	CTD_human
1356	CP	C0040485	Torticollis	0.2	0	0	HPO
1356	CP	C0040822	Tremor	0.203007639249027	0	0	HPO
1356	CP	C0085397	Pasteurellaceae Infections	0.2	1	0	CTD_human
1356	CP	C0151564	Cogwheel Rigidity	0.2	0	0	HPO
1356	CP	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1356	CP	C0162119	Hemoglobin low	0.2	0	0	HPO
1356	CP	C0233715	Speech impairment	0.2	0	0	HPO
1356	CP	C0234133	Extrapyramidal sign	0.2	0	0	HPO
1356	CP	C0240997	Decreased serum ceruloplasmin	0.2	0	0	HPO
1356	CP	C0241013	Serum ferritin increased	0.2	0	0	HPO
1356	CP	C0241210	Speech Delay	0.2	0	0	HPO
1356	CP	C0242422	Parkinsonian Disorders	0.2	0	0	HPO
1356	CP	C0278184	Scanning speech	0.2	0	0	HPO
1356	CP	C0282193	Iron Overload	0.203296721410557	1	0	CTD_human
1356	CP	C0454644	Delayed speech and language development	0.2	0	0	HPO
1356	CP	C0497327	Dementia	0.400274726784213	1	0	CTD_human;HPO
1356	CP	C0522198	Explosive speech	0.2	0	0	HPO
1356	CP	C0743912	Increased ferritin	0.2	0	0	HPO
1356	CP	C0878682	Ceruloplasmin deficiency	0.287142896389541	0	0	ORPHANET
1356	CP	C0949445	Cervical Dystonia	0.2	0	0	HPO
1356	CP	C0993582	Arthritis, Experimental	0.2	1	0	CTD_human
1356	CP	C1853562	Adult onset	0.2	0	0	HPO
1356	CP	C2239176	Liver carcinoma	0.200274726784213	1	0	CTD_human
1356	CP	C2931082	Familial apoceruloplasmin deficiency	0.4	3	0	CTD_human;ORPHANET
1356	CP	C3854388	Hyperferritinaemia	0.2	0	0	HPO
1356	CP	C4020858	Choreatic disease	0.2	0	0	HPO
1356	CP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1356	CP	C4022891	Liver iron concentration increased	0.2	0	0	HPO
1356	CP	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1357	CPA1	C0149521	Pancreatitis, Chronic	0.200549453568426	1	0	CTD_human
1357	CPA1	C0238339	Hereditary pancreatitis	0.2	0	0	ORPHANET
1358	CPA2	C0242184	Hypoxia	0.2	1	0	CTD_human
136	ADORA2B	C0027627	Neoplasm Metastasis	0.2	1	0	CTD_human
1361	CPB2	C0002453	Amenorrhea	0.2	1	0	CTD_human
1361	CPB2	C0028754	Obesity	0.2	1	0	CTD_human
1363	CPE	C0014130	Endocrine System Diseases	0.2	1	0	CTD_human
1363	CPE	C0021655	Insulin Resistance	0.2	1	0	CTD_human
1363	CPE	C0028754	Obesity	0.28350593566014	2	0	CTD_human
1364	CLDN4	C0027643	Neoplasm Recurrence, Local	0.2	1	0	CTD_human
1364	CLDN4	C0032460	Polycystic Ovary Syndrome	0.200274726784213	1	0	CTD_human
1364	CLDN4	C1134719	Invasive Ductal Breast Carcinoma	0.2	1	0	CTD_human
1364	CLDN4	C1458155	Mammary Neoplasms	0.200549453568426	1	0	CTD_human
1366	CLDN7	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1366	CLDN7	C0677886	Epithelial ovarian cancer	0.201098907136852	1	0	CTD_human
136647	MPLKIP	C1313961	Trichorrhexis nodosa syndrome	0.2	1	5	UNIPROT
136647	MPLKIP	C1955934	Trichothiodystrophy Syndromes	0.401373633921066	0	0	CTD_human;ORPHANET
1368	CPM	C0014175	Endometriosis	0.2	1	0	CTD_human
1368	CPM	C0037116	Silicosis	0.2	1	0	CTD_human
1369	CPN1	C0037268	Skin Abnormalities	0.2	0	0	HPO
1369	CPN1	C0037274	Dermatologic disorders	0.2	0	0	HPO
1369	CPN1	C0398782	Carboxypeptidase N Deficiency	0.4	1	1	CTD_human;UNIPROT
1369	CPN1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1369	CPN1	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
136991	ASZ1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1371	CPOX	C0000737	Abdominal Pain	0.2	0	0	HPO
1371	CPOX	C0002881	Anemia, Hemolytic, Congenital	0.2	0	0	HPO
1371	CPOX	C0003467	Anxiety	0.2	0	0	HPO
1371	CPOX	C0009676	Confusion	0.2	0	0	HPO
1371	CPOX	C0009806	Constipation	0.2	0	0	HPO
1371	CPOX	C0011581	Depressive disorder	0.2	0	0	HPO
1371	CPOX	C0011991	Diarrhea	0.2	0	0	HPO
1371	CPOX	C0018524	Hallucinations	0.2	0	0	HPO
1371	CPOX	C0019209	Hepatomegaly	0.2	0	0	HPO
1371	CPOX	C0020538	Hypertensive disease	0.2	0	0	HPO
1371	CPOX	C0022346	Icterus	0.2	0	0	HPO
1371	CPOX	C0027498	Nausea and vomiting	0.2	0	0	HPO
1371	CPOX	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1371	CPOX	C0035232	Respiratory Paralysis	0.2	0	0	HPO
1371	CPOX	C0038002	Splenomegaly	0.2	0	0	HPO
1371	CPOX	C0039231	Tachycardia	0.2	0	0	HPO
1371	CPOX	C0042963	Vomiting	0.2	0	0	HPO
1371	CPOX	C0162531	Hereditary Coproporphyria	0.68767799458065	10	9	CTD_human;ORPHANET;UNIPROT
1371	CPOX	C0162566	Porphyria Cutanea Tarda	0.2	1	0	CTD_human
1371	CPOX	C0231528	Myalgia	0.2	0	0	HPO
1371	CPOX	C0235153	Hallucinations, Sensory	0.2	0	0	HPO
1371	CPOX	C0237326	Dyschezia	0.2	0	0	HPO
1371	CPOX	C0241054	Skin bulla	0.2	0	0	HPO
1371	CPOX	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1371	CPOX	C0423757	Thin skin	0.2	0	0	HPO
1371	CPOX	C0442874	Neuropathy	0.2	0	0	HPO
1371	CPOX	C0497247	Increase in blood pressure	0.2	0	0	HPO
1371	CPOX	C0917801	Sleeplessness	0.2	0	0	HPO
1371	CPOX	C1456784	Paranoia	0.2	0	0	HPO
1371	CPOX	C1842774	Hyperpigmented macules	0.2	0	0	HPO
1371	CPOX	C1867971	Acute episodes of neuropathic symptoms	0.2	0	0	HPO
1371	CPOX	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1371	CPOX	C2220104	Blister of skin	0.2	0	0	HPO
1371	CPOX	C2700617	Irritation - emotion	0.2	0	0	HPO
1371	CPOX	C4020827	Neonatal hemolytic anemia	0.2	0	0	HPO
1371	CPOX	C4020868	Elevated heart rate	0.2	0	0	HPO
1371	CPOX	C4020884	Anxiety disease	0.2	0	0	HPO
1371	CPOX	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
137196	CCDC26	C0017638	Glioma	0.207561324888707	1	0	CTD_human
1373	CPS1	C0002064	Alkalosis, Respiratory	0.2	0	0	HPO
1373	CPS1	C0006114	Cerebral Edema	0.2	0	0	HPO
1373	CPS1	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1373	CPS1	C0009421	Comatose	0.4	1	0	CTD_human;HPO
1373	CPS1	C0014544	Epilepsy	0.202407028523288	0	0	HPO
1373	CPS1	C0023380	Lethargy	0.2	0	0	HPO
1373	CPS1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1373	CPS1	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1373	CPS1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1373	CPS1	C0031190	Persistent Fetal Circulation Syndrome	0.2	1	0	CTD_human
1373	CPS1	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
1373	CPS1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1373	CPS1	C0036572	Seizures	0.2	0	0	HPO
1373	CPS1	C0042963	Vomiting	0.2	0	0	HPO
1373	CPS1	C0220994	Hyperammonemia	0.406253203502271	2	0	CTD_human;HPO
1373	CPS1	C0231246	Failure to gain weight	0.2	0	0	HPO
1373	CPS1	C0238621	Aminoaciduria	0.2	0	0	HPO
1373	CPS1	C0376618	Endotoxemia	0.2	1	0	CTD_human
1373	CPS1	C0423903	Low intelligence	0.2	0	0	HPO
1373	CPS1	C0557874	Global developmental delay	0.2	0	0	HPO
1373	CPS1	C0751753	Carbamoyl-Phosphate Synthase I Deficiency Disease	0.400549453568426	2	7	CTD_human;ORPHANET
1373	CPS1	C0917816	Mental deficiency	0.2	0	0	HPO
1373	CPS1	C1527311	Brain Edema	0.2	0	0	HPO
1373	CPS1	C1839531	Protein avoidance	0.2	0	0	HPO
1373	CPS1	C1839532	Low plasma citrulline	0.2	0	0	HPO
1373	CPS1	C1839541	Episodic ammonia intoxication	0.2	0	0	HPO
1373	CPS1	C1843367	Poor school performance	0.2	0	0	HPO
1373	CPS1	C1859735	Arginine deficiency	0.2	0	0	HPO
1373	CPS1	C1864897	Cognitive delay	0.2	0	0	HPO
1373	CPS1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1373	CPS1	C2677362	Alveolar capillary dysplasia	0.2	0	0	CTD_human
1373	CPS1	C2700617	Irritation - emotion	0.2	0	0	HPO
1373	CPS1	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1373	CPS1	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
1373	CPS1	C4020855	Respiratory function loss	0.2	0	0	HPO
1373	CPS1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1373	CPS1	C4020876	Dull intelligence	0.2	0	0	HPO
1373	CPS1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1373	CPS1	C4025095	Hypoargininemia	0.2	0	0	HPO
1373	CPS1	C4082171	Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency	0.480274726784213	10	35	ORPHANET;UNIPROT
1374	CPT1A	C0001126	Renal tubular acidosis	0.2	0	0	HPO
1374	CPT1A	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1374	CPT1A	C0009421	Comatose	0.2	0	0	HPO
1374	CPT1A	C0011849	Diabetes Mellitus	0.200274726784213	1	0	CTD_human
1374	CPT1A	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1374	CPT1A	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200549453568426	1	0	CTD_human
1374	CPT1A	C0011991	Diarrhea	0.2	0	0	HPO
1374	CPT1A	C0014544	Epilepsy	0.2	0	0	HPO
1374	CPT1A	C0015672	Fatigue	0.2	0	0	HPO
1374	CPT1A	C0018800	Cardiomegaly	0.2	0	0	HPO
1374	CPT1A	C0019209	Hepatomegaly	0.2	0	0	HPO
1374	CPT1A	C0020615	Hypoglycemia	0.201373633921065	0	0	HPO
1374	CPT1A	C0022661	Kidney Failure, Chronic	0.200274726784213	1	0	CTD_human
1374	CPT1A	C0023380	Lethargy	0.2	0	0	HPO
1374	CPT1A	C0026827	Muscle hypotonia	0.2	0	0	HPO
1374	CPT1A	C0036572	Seizures	0.2	0	0	HPO
1374	CPT1A	C0037822	Speech Disorders	0.2	0	0	HPO
1374	CPT1A	C0041657	Unconscious State	0.2	0	0	HPO
1374	CPT1A	C0085605	Liver Failure	0.2	0	0	HPO
1374	CPT1A	C0086565	Liver Dysfunction	0.2	0	0	HPO
1374	CPT1A	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1374	CPT1A	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1374	CPT1A	C0220994	Hyperammonemia	0.2	0	0	HPO
1374	CPT1A	C0233514	Abnormal behavior	0.2	0	0	HPO
1374	CPT1A	C0234958	muscle degeneration	0.2	0	0	HPO
1374	CPT1A	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1374	CPT1A	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1374	CPT1A	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1374	CPT1A	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1374	CPT1A	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
1374	CPT1A	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1374	CPT1A	C0438717	Transaminases increased	0.2	0	0	HPO
1374	CPT1A	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1374	CPT1A	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1374	CPT1A	C0855329	Electrocardiogram change	0.2	0	0	HPO
1374	CPT1A	C0877359	Liver function test increased	0.2	0	0	HPO
1374	CPT1A	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1374	CPT1A	C1829703	Carnitine palmitoyl transferase 1A deficiency	0.68	6	48	CTD_human;ORPHANET;UNIPROT
1374	CPT1A	C1832603	EKG abnormalities	0.2	0	0	HPO
1374	CPT1A	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1374	CPT1A	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1374	CPT1A	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1374	CPT1A	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1374	CPT1A	C1850719	Encephalopathy, recurrent	0.2	0	0	HPO
1374	CPT1A	C1850722	Transient hyperlipidemia	0.2	0	0	HPO
1374	CPT1A	C1856438	Hypoketotic hypoglycemia	0.2	0	0	HPO
1374	CPT1A	C1866934	Decreased to absent deep tendon reflexes	0.2	0	0	HPO
1374	CPT1A	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1374	CPT1A	C2711227	Steatohepatitis	0.200824180352639	0	0	HPO
1374	CPT1A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1374	CPT1A	C4025690	Prenatal maternal abnormality	0.2	0	0	HPO
137492	VPS37A	C3539494	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	0.4	1	1	ORPHANET;UNIPROT
1375	CPT1B	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1375	CPT1B	C0018800	Cardiomegaly	0.2	1	0	CTD_human
1375	CPT1B	C0023903	Liver neoplasms	0.2	1	0	CTD_human
1375	CPT1B	C0027404	Narcolepsy	0.201373633921065	1	0	CTD_human
1375	CPT1B	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1376	CPT2	C0003578	Apnea	0.2	0	0	HPO
1376	CPT2	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1376	CPT2	C0006112	Brain Diseases, Metabolic	0.2	1	0	CTD_human
1376	CPT2	C0007193	Cardiomyopathy, Dilated	0.2	0	0	HPO
1376	CPT2	C0009421	Comatose	0.2	0	0	HPO
1376	CPT2	C0014544	Epilepsy	0.2	0	0	HPO
1376	CPT2	C0015672	Fatigue	0.2	0	0	HPO
1376	CPT2	C0016506	Foot Deformities	0.2	0	0	HPO
1376	CPT2	C0018800	Cardiomegaly	0.2	0	0	HPO
1376	CPT2	C0019209	Hepatomegaly	0.2	0	0	HPO
1376	CPT2	C0020295	Hydronephrosis	0.2	0	0	HPO
1376	CPT2	C0022680	Polycystic Kidney Diseases	0.2	0	0	HPO
1376	CPT2	C0023380	Lethargy	0.2	0	0	HPO
1376	CPT2	C0026821	Muscle Cramp	0.2	0	0	HPO
1376	CPT2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1376	CPT2	C0026848	Myopathy	0.403231208875927	1	0	CTD_human;HPO
1376	CPT2	C0027080	Myoglobinuria	0.202732912464814	0	0	HPO
1376	CPT2	C0027498	Nausea and vomiting	0.2	0	0	HPO
1376	CPT2	C0035078	Kidney Failure	0.2	0	0	HPO
1376	CPT2	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1376	CPT2	C0035410	Rhabdomyolysis	0.205465824929628	0	0	HPO
1376	CPT2	C0036572	Seizures	0.2	0	0	HPO
1376	CPT2	C0042963	Vomiting	0.2	0	0	HPO
1376	CPT2	C0085605	Liver Failure	0.2	0	0	HPO
1376	CPT2	C0086543	Cataract	0.2	0	0	HPO
1376	CPT2	C0086565	Liver Dysfunction	0.2	0	0	HPO
1376	CPT2	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1376	CPT2	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1376	CPT2	C0151786	Muscle Weakness	0.2	0	0	HPO
1376	CPT2	C0162297	Respiratory arrest	0.2	0	0	HPO
1376	CPT2	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1376	CPT2	C0220994	Hyperammonemia	0.2	0	0	HPO
1376	CPT2	C0221170	Muscular stiffness	0.2	0	0	HPO
1376	CPT2	C0221365	Double ureter	0.2	0	0	HPO
1376	CPT2	C0231528	Myalgia	0.201373633921065	0	0	HPO
1376	CPT2	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1376	CPT2	C0239234	Low set ears	0.2	0	0	HPO
1376	CPT2	C0239676	High forehead	0.2	0	0	HPO
1376	CPT2	C0240543	Bulbous nose	0.2	0	0	HPO
1376	CPT2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1376	CPT2	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1376	CPT2	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1376	CPT2	C0266464	Polymicrogyria	0.2	0	0	HPO
1376	CPT2	C0409338	Flexion contracture - elbow	0.2	0	0	HPO
1376	CPT2	C0424688	Small head	0.2	0	0	HPO
1376	CPT2	C0426886	Tapering fingers (finding)	0.2	0	0	HPO
1376	CPT2	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
1376	CPT2	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1376	CPT2	C0438717	Transaminases increased	0.2	0	0	HPO
1376	CPT2	C0476273	Respiratory distress	0.2	0	0	HPO
1376	CPT2	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1376	CPT2	C0542518	Enlarged kidney	0.2	0	0	HPO
1376	CPT2	C0741494	Elevated total bilirubin	0.2	0	0	HPO
1376	CPT2	C0855329	Electrocardiogram change	0.2	0	0	HPO
1376	CPT2	C0877359	Liver function test increased	0.2	0	0	HPO
1376	CPT2	C0878544	Cardiomyopathies	0.200274726784213	0	0	HPO
1376	CPT2	C1145670	Respiratory Failure	0.2	0	0	HPO
1376	CPT2	C1398312	Narrow palate	0.2	0	0	HPO
1376	CPT2	C1510497	Lens Opacities	0.2	0	0	HPO
1376	CPT2	C1565489	Renal Insufficiency	0.2	0	0	HPO
1376	CPT2	C1567435	Polycystic Kidney - body part	0.2	0	0	HPO
1376	CPT2	C1696466	Hepatic calcification	0.2	0	0	HPO
1376	CPT2	C1827524	Wide spaced nipples	0.2	0	0	HPO
1376	CPT2	C1832603	EKG abnormalities	0.2	0	0	HPO
1376	CPT2	C1833508	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	0.6	9	36	CTD_human;ORPHANET;UNIPROT
1376	CPT2	C1833511	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	0.600274726784213	2	26	CTD_human;ORPHANET;UNIPROT
1376	CPT2	C1833518	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	0.4	0	0	CTD_human;ORPHANET
1376	CPT2	C1834118	Potato nose	0.2	0	0	HPO
1376	CPT2	C1837246	Intracerebral periventricular calcifications	0.2	0	0	HPO
1376	CPT2	C1837247	Antenatal intracerebral hemorrhage	0.2	0	0	HPO
1376	CPT2	C1837251	Basal ganglia cysts	0.2	0	0	HPO
1376	CPT2	C1837256	Macrovesicular steatosis	0.2	0	0	HPO
1376	CPT2	C1837260	Prominent forehead	0.2	0	0	HPO
1376	CPT2	C1837262	Lipid accumulation in skeletal muscle	0.2	0	0	HPO
1376	CPT2	C1837271	Increased serum long-chain fatty acids	0.2	0	0	HPO
1376	CPT2	C1837273	Long-chain dicarboxylic aciduria	0.2	0	0	HPO
1376	CPT2	C1837279	Hypoplastic toenails	0.2	0	0	HPO
1376	CPT2	C1837731	Overfolded helix	0.2	0	0	HPO
1376	CPT2	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1376	CPT2	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1376	CPT2	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1376	CPT2	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1376	CPT2	C1848924	Infantile onset	0.2	0	0	HPO
1376	CPT2	C1855751	Bulbous nasal tip	0.2	0	0	HPO
1376	CPT2	C1856438	Hypoketotic hypoglycemia	0.2	0	0	HPO
1376	CPT2	C1857679	Sloping forehead	0.2	0	0	HPO
1376	CPT2	C1865292	Nonketotic hypoglycemia	0.2	0	0	HPO
1376	CPT2	C1867446	Bulging forehead	0.2	0	0	HPO
1376	CPT2	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1376	CPT2	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1376	CPT2	C2677762	Tall forehead	0.2	0	0	HPO
1376	CPT2	C3150613	Long toes	0.2	0	0	HPO
1376	CPT2	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1376	CPT2	C3714581	Multicystic Dysplastic Kidney	0.2	0	0	HPO
1376	CPT2	C4015009	Decreased plasma free carnitine	0.2	0	0	HPO
1376	CPT2	C4020855	Respiratory function loss	0.2	0	0	HPO
1376	CPT2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1376	CPT2	C4021167	Tapered toe	0.2	0	0	HPO
1376	CPT2	C4022810	Abnormality of nervous system morphology	0.2	0	0	HPO
1376	CPT2	C4023117	Decreased plasma total carnitine	0.2	0	0	HPO
137682	NDUFAF6	C0023264	Leigh Disease	0.400549453568426	0	0	CTD_human;ORPHANET
137682	NDUFAF6	C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	0.2	2	3	UNIPROT
137735	ABRA	C0007193	Cardiomyopathy, Dilated	0.2	1	0	CTD_human
1378	CR1	C0002395	Alzheimer's Disease	0.218497560368295	2	4	CTD_human
1378	CR1	C0024530	Malaria	0.20433011601278	0	0	CTD_human
1378	CR1	C0024535	Malaria, Falciparum	0.205638237399215	2	0	CTD_human
137868	SGCZ	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
137872	ADHFE1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1380	CR2	C0002878	Anemia, Hemolytic	0.2	0	0	HPO
1380	CR2	C0003466	Anus, Imperforate	0.2	0	0	HPO
1380	CR2	C0004364	Autoimmune Diseases	0.201923087489492	0	0	HPO
1380	CR2	C0006267	Bronchiectasis	0.2	0	0	HPO
1380	CR2	C0009447	Common Variable Immunodeficiency	0.202472541057918	0	0	ORPHANET
1380	CR2	C0009763	Conjunctivitis	0.2	0	0	HPO
1380	CR2	C0011991	Diarrhea	0.2	0	0	HPO
1380	CR2	C0019209	Hepatomegaly	0.2	0	0	HPO
1380	CR2	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1380	CR2	C0024141	Lupus Erythematosus, Systemic	0.209470057000881	0	0	CTD_human
1380	CR2	C0024299	Lymphoma	0.202197814273705	0	0	HPO
1380	CR2	C0024312	Lymphopenia	0.2	0	0	HPO
1380	CR2	C0025289	Meningitis	0.2	0	0	HPO
1380	CR2	C0032285	Pneumonia	0.200274726784213	0	0	HPO
1380	CR2	C0034150	Purpura	0.2	0	0	HPO
1380	CR2	C0038002	Splenomegaly	0.2	0	0	HPO
1380	CR2	C0086438	Hypogammaglobulinemia	0.200824180352639	0	0	HPO
1380	CR2	C0086565	Liver Dysfunction	0.2	0	0	HPO
1380	CR2	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1380	CR2	C0162538	Immunoglobulin A deficiency (disorder)	0.2	0	0	HPO
1380	CR2	C0162539	IgG Deficiency	0.2	0	0	HPO
1380	CR2	C0221356	Brachycephaly	0.2	0	0	HPO
1380	CR2	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1380	CR2	C0239989	Decreased IgM	0.2	0	0	HPO
1380	CR2	C0242584	Autoimmune thrombocytopenia	0.2	0	0	HPO
1380	CR2	C0271441	Chronic otitis media	0.2	0	0	HPO
1380	CR2	C0398650	Immune thrombocytopenic purpura	0.2	0	0	HPO
1380	CR2	C0401151	Chronic diarrhea	0.2	0	0	HPO
1380	CR2	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1380	CR2	C0438717	Transaminases increased	0.2	0	0	HPO
1380	CR2	C0497156	Lymphadenopathy	0.2	0	0	HPO
1380	CR2	C0581354	Recurrent sinusitis	0.2	0	0	HPO
1380	CR2	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1380	CR2	C0741796	Recurrent bronchitis	0.2	0	0	HPO
1380	CR2	C0743359	ear infection chronic	0.2	0	0	HPO
1380	CR2	C0747085	Recurrent otitis media	0.2	0	0	HPO
1380	CR2	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1380	CR2	C0876973	Infectious disease of lung	0.2	0	0	HPO
1380	CR2	C0877359	Liver function test increased	0.2	0	0	HPO
1380	CR2	C0920163	Idiopathic thrombocytopenia	0.2	0	0	HPO
1380	CR2	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1380	CR2	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
1380	CR2	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1380	CR2	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1380	CR2	C1860127	Impaired T cell function	0.2	0	0	HPO
1380	CR2	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
1380	CR2	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
1380	CR2	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1380	CR2	C4020846	Prone to bacterial infection	0.2	0	0	HPO
1380	CR2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1380	CR2	C4048270	Decreased antibody level in blood	0.2	0	0	HPO
1380	CR2	C4072823	Broad cranium shape	0.2	0	0	HPO
1380	CR2	C4072824	Wide skull shape	0.2	0	0	HPO
1380	CR2	C4280333	Recurrent sinus disease	0.2	0	0	HPO
138046	RALYL	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
138050	HGSNAT	C0026706	Mucopolysaccharidosis III	0.2	0	0	CTD_human
138050	HGSNAT	C0035334	Retinitis Pigmentosa	0.200274726784213	0	0	ORPHANET
138050	HGSNAT	C0086649	MPS III C	0.481923087489492	8	14	ORPHANET;UNIPROT
138050	HGSNAT	C4225287	RETINITIS PIGMENTOSA 73	0.2	1	2	UNIPROT
1381	CRABP1	C0007134	Renal Cell Carcinoma	0.203007639249027	1	0	CTD_human
1381	CRABP1	C0022548	Keloid	0.2	1	0	CTD_human
1381	CRABP1	C0023903	Liver neoplasms	0.2	1	0	CTD_human
1381	CRABP1	C0279626	Squamous cell carcinoma of esophagus	0.200274726784213	1	0	CTD_human
138428	PTRH1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1385	CREB1	C0001973	Alcoholic Intoxication, Chronic	0.203231208875927	3	0	PSYGENET
1385	CREB1	C0005586	Bipolar Disorder	0.203831819601666	3	0	PSYGENET
1385	CREB1	C0011570	Mental Depression	0.211825928366857	5	0	PSYGENET
1385	CREB1	C0011581	Depressive disorder	0.203296721410557	5	0	PSYGENET
1385	CREB1	C0026552	Morphine Dependence	0.2	1	0	CTD_human
1385	CREB1	C0027051	Myocardial Infarction	0.2	1	0	CTD_human
1385	CREB1	C0036341	Schizophrenia	0.201373633921065	3	0	PSYGENET
1385	CREB1	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
1385	CREB1	C0041696	Unipolar Depression	0.20357144819477	5	0	PSYGENET
1385	CREB1	C0236736	Cocaine-Related Disorders	0.2	3	0	CTD_human
1385	CREB1	C0525045	Mood Disorders	0.205754907091158	5	0	PSYGENET
1385	CREB1	C0544886	Somatic mutation	0.2	0	0	HPO
1385	CREB1	C0600427	Cocaine Dependence	0.200274726784213	1	0	PSYGENET
1385	CREB1	C1266127	Histiocytoma, Angiomatoid Fibrous	0.201373633921065	0	0	CTD_human
1385	CREB1	C1269683	Major Depressive Disorder	0.212008110593429	5	0	PSYGENET
1385	CREB1	C1509147	Histiocytoma	0.2	0	0	HPO
1387	CREBBP	C0001818	Agoraphobia	0.2	0	0	HPO
1387	CREBBP	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1387	CREBBP	C0004352	Autistic Disorder	0.280549453568426	0	0	HPO
1387	CREBBP	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1387	CREBBP	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
1387	CREBBP	C0005745	Blepharoptosis	0.2	0	0	HPO
1387	CREBBP	C0007137	Squamous cell carcinoma	0.20328236603324	1	0	CTD_human
1387	CREBBP	C0007138	Carcinoma, Transitional Cell	0.200274726784213	1	0	CTD_human
1387	CREBBP	C0009363	Congenital ocular coloboma (disorder)	0.2	0	0	HPO
1387	CREBBP	C0009806	Constipation	0.2	0	0	HPO
1387	CREBBP	C0009917	Contracture	0.2	0	0	HPO
1387	CREBBP	C0009918	Contracture of joint	0.2	0	0	HPO
1387	CREBBP	C0010417	Cryptorchidism	0.2	0	0	HPO
1387	CREBBP	C0010606	Adenoid Cystic Carcinoma	0.2	1	0	CTD_human
1387	CREBBP	C0011053	Deafness	0.2	0	0	HPO
1387	CREBBP	C0011351	Dental Enamel Hypoplasia	0.2	0	0	HPO
1387	CREBBP	C0011573	Endogenous depression	0.2	1	0	PSYGENET
1387	CREBBP	C0013261	Duane Retraction Syndrome	0.2	0	0	HPO
1387	CREBBP	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
1387	CREBBP	C0014306	Enophthalmos	0.2	0	0	HPO
1387	CREBBP	C0014544	Epilepsy	0.200274726784213	0	0	HPO
1387	CREBBP	C0015300	Exophthalmos	0.2	0	0	HPO
1387	CREBBP	C0016202	Flatfoot	0.2	0	0	HPO
1387	CREBBP	C0017601	Glaucoma	0.2	0	0	HPO
1387	CREBBP	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1387	CREBBP	C0018817	Atrial Septal Defects	0.2	0	0	HPO
1387	CREBBP	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1387	CREBBP	C0019569	Hirschsprung Disease	0.2	0	0	HPO
1387	CREBBP	C0019572	Hirsutism	0.2	0	0	HPO
1387	CREBBP	C0020224	Polyhydramnios	0.2	0	0	HPO
1387	CREBBP	C0021125	Impulsive Behavior	0.2	0	0	HPO
1387	CREBBP	C0022548	Keloid	0.2	0	0	HPO
1387	CREBBP	C0022658	Kidney Diseases	0.2	0	0	HPO
1387	CREBBP	C0022906	Lacrimal Duct Obstruction	0.2	0	0	HPO
1387	CREBBP	C0023012	Language Delay	0.2	0	0	HPO
1387	CREBBP	C0023234	Legg-Calve-Perthes Disease	0.2	0	0	HPO
1387	CREBBP	C0024301	Lymphoma, Follicular	0.200824180352639	1	0	CTD_human
1387	CREBBP	C0024636	Malocclusion	0.2	0	0	HPO
1387	CREBBP	C0025160	Megacolon	0.2	0	0	HPO
1387	CREBBP	C0025362	Mental Retardation	0.2	0	0	HPO
1387	CREBBP	C0025990	Micrognathism	0.2	0	0	HPO
1387	CREBBP	C0026034	Microstomia	0.2	0	0	HPO
1387	CREBBP	C0026827	Muscle hypotonia	0.2	0	0	HPO
1387	CREBBP	C0033578	Prostatic Neoplasms	0.200274726784213	2	0	CTD_human
1387	CREBBP	C0035934	Rubinstein-Taybi Syndrome	0.709258476489586	3	77	CTD_human;ORPHANET;UNIPROT
1387	CREBBP	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1387	CREBBP	C0036572	Seizures	0.2	0	0	HPO
1387	CREBBP	C0036601	Self Mutilation	0.2	0	0	HPO
1387	CREBBP	C0036920	Sezary Syndrome	0.2	1	0	CTD_human
1387	CREBBP	C0037932	Curvature of spine	0.2	0	0	HPO
1387	CREBBP	C0038271	Stereotyped Behavior	0.2	0	0	HPO
1387	CREBBP	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
1387	CREBBP	C0038379	Strabismus	0.2	0	0	HPO
1387	CREBBP	C0039075	Syndactyly	0.2	0	0	HPO
1387	CREBBP	C0040433	Tooth Crowding	0.2	0	0	HPO
1387	CREBBP	C0080174	Spina Bifida Occulta	0.2	0	0	HPO
1387	CREBBP	C0080218	Tethered Cord Syndrome	0.2	0	0	HPO
1387	CREBBP	C0086437	Joint laxity	0.2	0	0	HPO
1387	CREBBP	C0086543	Cataract	0.2	0	0	HPO
1387	CREBBP	C0149925	Small cell carcinoma of lung	0.200274726784213	1	0	CTD_human
1387	CREBBP	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
1387	CREBBP	C0151889	Hyperreflexia	0.2	0	0	HPO
1387	CREBBP	C0152013	Adenocarcinoma of lung (disorder)	0.2	1	0	CTD_human
1387	CREBBP	C0152427	Polydactyly	0.2	0	0	HPO
1387	CREBBP	C0175754	Agenesis of corpus callosum	0.200549453568426	0	0	HPO
1387	CREBBP	C0206733	Strawberry nevus of skin	0.2	0	0	HPO
1387	CREBBP	C0221214	Vascular ring	0.2	0	0	HPO
1387	CREBBP	C0221263	Cafe-au-Lait Spots	0.2	0	0	HPO
1387	CREBBP	C0221354	Frontal bossing	0.2	0	0	HPO
1387	CREBBP	C0231246	Failure to gain weight	0.2	0	0	HPO
1387	CREBBP	C0231686	Gait, Unsteady	0.2	0	0	HPO
1387	CREBBP	C0233715	Speech impairment	0.2	0	0	HPO
1387	CREBBP	C0234853	Facial grimacing	0.2	0	0	HPO
1387	CREBBP	C0237326	Dyschezia	0.2	0	0	HPO
1387	CREBBP	C0239234	Low set ears	0.2	0	0	HPO
1387	CREBBP	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1387	CREBBP	C0240310	Hypoplasia of the maxilla	0.200274726784213	0	0	HPO
1387	CREBBP	C0240538	Convex nasal ridge	0.2	0	0	HPO
1387	CREBBP	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1387	CREBBP	C0241210	Speech Delay	0.2	0	0	HPO
1387	CREBBP	C0262630	Reduced concentration span	0.2	0	0	HPO
1387	CREBBP	C0264133	Acquired flat foot	0.2	0	0	HPO
1387	CREBBP	C0264303	Laryngomalacia	0.2	0	0	HPO
1387	CREBBP	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1387	CREBBP	C0265563	Congenital dislocation of radial head	0.2	0	0	HPO
1387	CREBBP	C0265974	Birthmark	0.2	0	0	HPO
1387	CREBBP	C0266034	Dens evaginatus	0.2	0	0	HPO
1387	CREBBP	C0266292	Congenital anomaly of the kidney	0.2	0	0	HPO
1387	CREBBP	C0277828	Late fontanel closure	0.2	0	0	HPO
1387	CREBBP	C0279626	Squamous cell carcinoma of esophagus	0.200549453568426	1	0	CTD_human
1387	CREBBP	C0311277	Obesity, Abdominal	0.2	0	0	HPO
1387	CREBBP	C0333068	Flexion contracture	0.2	0	0	HPO
1387	CREBBP	C0339789	Congenital deafness	0.2	0	0	HPO
1387	CREBBP	C0349588	Short stature	0.2	0	0	HPO
1387	CREBBP	C0399357	Talon cusp	0.2	0	0	HPO
1387	CREBBP	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1387	CREBBP	C0423224	Sunken eyes	0.2	0	0	HPO
1387	CREBBP	C0423903	Low intelligence	0.2	0	0	HPO
1387	CREBBP	C0424295	Hyperactive behavior	0.2	0	0	HPO
1387	CREBBP	C0424688	Small head	0.2	0	0	HPO
1387	CREBBP	C0424731	Single transverse palmar crease	0.2	0	0	HPO
1387	CREBBP	C0425772	Premature development of the breasts	0.2	0	0	HPO
1387	CREBBP	C0426891	Broad thumbs	0.2	0	0	HPO
1387	CREBBP	C0431483	Simple ear	0.2	0	0	HPO
1387	CREBBP	C0454455	Mirror movements disorder	0.2	0	0	HPO
1387	CREBBP	C0454644	Delayed speech and language development	0.2	0	0	HPO
1387	CREBBP	C0476273	Respiratory distress	0.2	0	0	HPO
1387	CREBBP	C0520679	Sleep Apnea, Obstructive	0.2	0	0	HPO
1387	CREBBP	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1387	CREBBP	C0541764	Delayed bone age	0.2	0	0	HPO
1387	CREBBP	C0549397	Deviated nasal septum	0.2	0	0	HPO
1387	CREBBP	C0563243	Poor coordination	0.2	0	0	HPO
1387	CREBBP	C0581381	Recurrent upper respiratory tract infection	0.2	0	0	HPO
1387	CREBBP	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1387	CREBBP	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
1387	CREBBP	C0751466	Phonophobia	0.2	0	0	HPO
1387	CREBBP	C0855329	Electrocardiogram change	0.2	0	0	HPO
1387	CREBBP	C0857379	Auricular malformation	0.2	0	0	HPO
1387	CREBBP	C0917816	Mental deficiency	0.2	0	0	HPO
1387	CREBBP	C1185616	Hair whorls	0.2	0	0	HPO
1387	CREBBP	C1281931	Obstruction of nasolacrimal duct	0.2	0	0	HPO
1387	CREBBP	C1290508	Abnormal number of teeth	0.2	0	0	HPO
1387	CREBBP	C1317785	Tooth size discrepancy	0.2	0	0	HPO
1387	CREBBP	C1384666	hearing impairment	0.2	0	0	HPO
1387	CREBBP	C1398312	Narrow palate	0.2	0	0	HPO
1387	CREBBP	C1510497	Lens Opacities	0.2	0	0	HPO
1387	CREBBP	C1691215	Penile hypospadias	0.2	0	0	HPO
1387	CREBBP	C1832603	EKG abnormalities	0.2	0	0	HPO
1387	CREBBP	C1835807	Prominent fingertip pads	0.2	0	0	HPO
1387	CREBBP	C1837760	Prominent eyes	0.2	0	0	HPO
1387	CREBBP	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1387	CREBBP	C1842366	Low anterior hairline	0.2	0	0	HPO
1387	CREBBP	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1387	CREBBP	C1843367	Poor school performance	0.2	0	0	HPO
1387	CREBBP	C1844508	Large foramen magnum	0.2	0	0	HPO
1387	CREBBP	C1846464	Globe retraction and deviation on adduction	0.2	0	0	HPO
1387	CREBBP	C1848490	Protruding eyes	0.2	0	0	HPO
1387	CREBBP	C1849367	Nasal bridge wide	0.2	0	0	HPO
1387	CREBBP	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1387	CREBBP	C1850327	Bifid uterus	0.2	0	0	HPO
1387	CREBBP	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1387	CREBBP	C1851854	Thin dental enamel	0.2	0	0	HPO
1387	CREBBP	C1852464	Cervical vertebral abnormalities	0.2	0	0	HPO
1387	CREBBP	C1853237	Isolated cases	0.2	0	0	HPO
1387	CREBBP	C1853487	Bushy eyebrows	0.2	0	0	HPO
1387	CREBBP	C1853738	Long eyelashes	0.2	0	0	HPO
1387	CREBBP	C1855670	Corneal abnormalities	0.2	0	0	HPO
1387	CREBBP	C1855728	Low posterior hairline	0.2	0	0	HPO
1387	CREBBP	C1856119	Low hanging columella	0.2	0	0	HPO
1387	CREBBP	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1387	CREBBP	C1857627	Chorioretinal dystrophy	0.2	0	0	HPO
1387	CREBBP	C1858539	Shawl scrotum	0.2	0	0	HPO
1387	CREBBP	C1859778	Postnatal growth retardation	0.2	0	0	HPO
1387	CREBBP	C1860164	Hallucal duplication	0.2	0	0	HPO
1387	CREBBP	C1861403	Variable expressivity	0.2	0	0	HPO
1387	CREBBP	C1862425	Prominent globes	0.2	0	0	HPO
1387	CREBBP	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
1387	CREBBP	C1864648	CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL	0.2	0	0	ORPHANET
1387	CREBBP	C1865027	Hypoplastic iliac wing	0.2	0	0	HPO
1387	CREBBP	C1865841	Flared iliac wings	0.2	0	0	HPO
1387	CREBBP	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1387	CREBBP	C1866862	Highly variable severity	0.2	0	0	HPO
1387	CREBBP	C1867131	Broad hallux	0.2	0	0	HPO
1387	CREBBP	C1867132	Plantar crease between first and second toes	0.2	0	0	HPO
1387	CREBBP	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
1387	CREBBP	C2051831	Pectus excavatum	0.2	0	0	HPO
1387	CREBBP	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1387	CREBBP	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1387	CREBBP	C2675540	Upswept frontal hair pattern	0.2	0	0	HPO
1387	CREBBP	C3275754	Upswept frontal hairline	0.2	0	0	HPO
1387	CREBBP	C3494422	Retrognathia	0.2	0	0	HPO
1387	CREBBP	C3714756	Intellectual Disability	0.2	0	0	HPO
1387	CREBBP	C4020691	Partial/complete duplication of the phalanges of the hallux	0.2	0	0	HPO
1387	CREBBP	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
1387	CREBBP	C4020876	Dull intelligence	0.2	0	0	HPO
1387	CREBBP	C4020889	Cornela disease	0.2	0	0	HPO
1387	CREBBP	C4024221	Papillary cystadenoma of the epididymis	0.2	0	0	HPO
1387	CREBBP	C4025111	Radial deviation of thumb terminal phalanx	0.2	0	0	HPO
1387	CREBBP	C4025806	High axial triradius	0.2	0	0	HPO
1387	CREBBP	C4025843	Abnormality of refraction	0.2	0	0	HPO
1387	CREBBP	C4072873	Limited eye motility from Duane anomaly	0.2	0	0	HPO
1387	CREBBP	C4073291	Hyperplasia of foramen magnum	0.2	0	0	HPO
1387	CREBBP	C4082243	Maxillary retrognathia	0.2	0	0	HPO
1387	CREBBP	C4280335	Extra cusp on inside of front tooth	0.2	0	0	HPO
1387	CREBBP	C4280395	Rounded columella	0.2	0	0	HPO
1387	CREBBP	C4280456	Dysplasia of tooth enamel	0.2	0	0	HPO
1387	CREBBP	C4280457	Defective enamel matrix	0.2	0	0	HPO
1387	CREBBP	C4280538	Curvature of little finger	0.2	0	0	HPO
1387	CREBBP	C4280554	Increased diameter of foramen magnum	0.2	0	0	HPO
1387	CREBBP	C4280555	Increased circumference of foramen magnum	0.2	0	0	HPO
1387	CREBBP	C4280613	Angle class 3 malocclusion	0.2	0	0	HPO
1387	CREBBP	C4280614	Angle class 2 malocclusion	0.2	0	0	HPO
1387	CREBBP	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
1387	CREBBP	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
1387	CREBBP	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
1387	CREBBP	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
1387	CREBBP	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
1387	CREBBP	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
1390	CREM	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1390	CREM	C0011875	Diabetic Angiopathies	0.2	1	0	CTD_human
1390	CREM	C0020564	Hypertrophy	0.2	1	0	CTD_human
1390	CREM	C0027051	Myocardial Infarction	0.2	1	0	CTD_human
1390	CREM	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1390	CREM	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
1390	CREM	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
1390	CREM	C0263454	Chloracne	0.2	1	0	CTD_human
1390	CREM	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1390	CREM	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
139105	BEND2	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
139285	AMER1	C0432268	Osteopathia striata cranial sclerosis	0.481923087489492	1	5	CTD_human;ORPHANET
1394	CRHR1	C0001973	Alcoholic Intoxication, Chronic	0.205154296365419	5	0	PSYGENET
1394	CRHR1	C0003123	Anorexia	0.2	1	0	CTD_human
1394	CRHR1	C0003469	Anxiety Disorders	0.203296721410557	2	0	CTD_human
1394	CRHR1	C0005586	Bipolar Disorder	0.200824180352639	4	0	PSYGENET
1394	CRHR1	C0011570	Mental Depression	0.221859794313482	5	0	PSYGENET
1394	CRHR1	C0011581	Depressive disorder	0.287692349957967	5	0	PSYGENET
1394	CRHR1	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1394	CRHR1	C0033975	Psychotic Disorders	0.200549453568426	1	0	PSYGENET
1394	CRHR1	C0041696	Unipolar Depression	0.201373633921065	5	0	PSYGENET
1394	CRHR1	C0178417	Anhedonia	0.200274726784213	1	0	PSYGENET
1394	CRHR1	C0236736	Cocaine-Related Disorders	0.28	1	0	CTD_human
1394	CRHR1	C0349204	Nonorganic psychosis	0.200549453568426	1	0	PSYGENET
1394	CRHR1	C0424295	Hyperactive behavior	0.200274726784213	1	0	CTD_human
1394	CRHR1	C0525045	Mood Disorders	0.201098907136852	5	0	PSYGENET
1394	CRHR1	C1269683	Major Depressive Disorder	0.40783605167292	5	0	CTD_human;PSYGENET
1395	CRHR2	C0003123	Anorexia	0.200824180352639	1	0	CTD_human
1395	CRHR2	C0003469	Anxiety Disorders	0.201098907136852	1	0	CTD_human
1395	CRHR2	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1395	CRHR2	C0011570	Mental Depression	0.202956482091714	4	0	PSYGENET
1395	CRHR2	C0011581	Depressive disorder	0.280549453568426	4	0	PSYGENET
1395	CRHR2	C0020538	Hypertensive disease	0.2	1	0	CTD_human
1395	CRHR2	C0021368	Inflammation	0.204814057046576	1	0	CTD_human
1395	CRHR2	C0024115	Lung diseases	0.2	1	0	CTD_human
1395	CRHR2	C0178417	Anhedonia	0.2	1	0	PSYGENET
1395	CRHR2	C0233477	Dysphoric mood	0.2	1	0	PSYGENET
1395	CRHR2	C0236736	Cocaine-Related Disorders	0.2	1	0	CTD_human
1395	CRHR2	C0525045	Mood Disorders	0.200549453568426	3	0	PSYGENET
1398	CRK	C0151744	Myocardial Ischemia	0.200274726784213	1	0	CTD_human
1399	CRKL	C0012236	DiGeorge Syndrome	0.280274726784213	1	0	CTD_human
1399	CRKL	C0014306	Enophthalmos	0.2	0	0	HPO
1399	CRKL	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1399	CRKL	C0016202	Flatfoot	0.2	0	0	HPO
1399	CRKL	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1399	CRKL	C0023015	Language Disorders	0.2	0	0	HPO
1399	CRKL	C0025362	Mental Retardation	0.2	0	0	HPO
1399	CRKL	C0151526	Premature Birth	0.2	0	0	HPO
1399	CRKL	C0233315	Premature birth of newborn	0.2	0	0	HPO
1399	CRKL	C0264133	Acquired flat foot	0.2	0	0	HPO
1399	CRKL	C0349588	Short stature	0.2	0	0	HPO
1399	CRKL	C0423224	Sunken eyes	0.2	0	0	HPO
1399	CRKL	C0423903	Low intelligence	0.2	0	0	HPO
1399	CRKL	C0424688	Small head	0.2	0	0	HPO
1399	CRKL	C0557874	Global developmental delay	0.2	0	0	HPO
1399	CRKL	C0917816	Mental deficiency	0.2	0	0	HPO
1399	CRKL	C1142533	Smooth philtrum	0.2	0	0	HPO
1399	CRKL	C1386048	Intrauterine retardation	0.2	0	0	HPO
1399	CRKL	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
1399	CRKL	C1843367	Poor school performance	0.2	0	0	HPO
1399	CRKL	C1844505	Pointed chin	0.2	0	0	HPO
1399	CRKL	C1844554	Absent fingernails	0.2	0	0	HPO
1399	CRKL	C1844555	Absent toenails (anonychia)	0.2	0	0	HPO
1399	CRKL	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1399	CRKL	C1864897	Cognitive delay	0.2	0	0	HPO
1399	CRKL	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
1399	CRKL	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
1399	CRKL	C2678480	Chromosome 22q11.2 Deletion Syndrome, Distal	0.2	0	0	ORPHANET
1399	CRKL	C3714756	Intellectual Disability	0.2	0	0	HPO
1399	CRKL	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
1399	CRKL	C4020867	Persistant truncus arteriosus	0.2	0	0	HPO
1399	CRKL	C4020875	Mental and motor retardation	0.2	0	0	HPO
1399	CRKL	C4020876	Dull intelligence	0.2	0	0	HPO
1399	CRKL	C4021808	Abnormality of earlobe	0.2	0	0	HPO
1399	CRKL	C4280538	Curvature of little finger	0.2	0	0	HPO
140	ADORA3	C0022116	Ischemia	0.2	1	0	CTD_human
140	ADORA3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
140	ADORA3	C0027051	Myocardial Infarction	0.202407028523288	2	0	CTD_human
1400	CRMP1	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1400	CRMP1	C3178803	Social Anhedonia	0.200274726784213	1	0	PSYGENET
1401	CRP	C0003469	Anxiety Disorders	0.2	1	0	CTD_human
1401	CRP	C0003873	Rheumatoid Arthritis	0.314753012173848	1	0	CTD_human
1401	CRP	C0004153	Atherosclerosis	0.276827745500561	1	0	CTD_human
1401	CRP	C0007222	Cardiovascular Diseases	0.310131841461728	2	0	CTD_human
1401	CRP	C0010346	Crohn Disease	0.211993755216112	1	0	CTD_human
1401	CRP	C0011854	Diabetes Mellitus, Insulin-Dependent	0.202472541057918	1	0	CTD_human
1401	CRP	C0011884	Diabetic Retinopathy	0.200549453568426	1	0	CTD_human
1401	CRP	C0018799	Heart Diseases	0.207011871320281	1	0	CTD_human
1401	CRP	C0018801	Heart failure	0.202472541057918	1	0	CTD_human
1401	CRP	C0020503	Hyperparathyroidism, Secondary	0.2	1	0	CTD_human
1401	CRP	C0020538	Hypertensive disease	0.22536114435329	4	0	CTD_human
1401	CRP	C0020557	Hypertriglyceridemia	0.201373633921065	1	0	CTD_human
1401	CRP	C0021368	Inflammation	0.269878029251662	3	0	CTD_human
1401	CRP	C0022661	Kidney Failure, Chronic	0.208371149864029	1	0	CTD_human
1401	CRP	C0023281	Leishmaniasis	0.2	1	0	CTD_human
1401	CRP	C0023290	Leishmaniasis, Visceral	0.2	1	0	CTD_human
1401	CRP	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
1401	CRP	C0024141	Lupus Erythematosus, Systemic	0.226827322831996	1	0	CTD_human
1401	CRP	C0024530	Malaria	0.201648360705279	1	0	CTD_human
1401	CRP	C0025289	Meningitis	0.200274726784213	1	0	CTD_human
1401	CRP	C0025517	Metabolic Diseases	0.204106546385879	1	0	CTD_human
1401	CRP	C0027059	Myocarditis	0.200274726784213	1	0	CTD_human
1401	CRP	C0027707	Nephritis, Interstitial	0.2	1	0	CTD_human
1401	CRP	C0028754	Obesity	0.229826871055662	1	0	CTD_human
1401	CRP	C0031099	Periodontitis	0.202197814273705	1	0	CTD_human
1401	CRP	C0033860	Psoriasis	0.201373633921065	1	0	CTD_human
1401	CRP	C0036341	Schizophrenia	0.202472541057918	3	0	PSYGENET
1401	CRP	C0038587	Substance Withdrawal Syndrome	0.2	1	0	CTD_human
1401	CRP	C0040053	Thrombosis	0.202732912464814	1	0	CTD_human
1401	CRP	C0041696	Unipolar Depression	0.2	2	0	PSYGENET
1401	CRP	C0085397	Pasteurellaceae Infections	0.2	1	0	CTD_human
1401	CRP	C0151744	Myocardial Ischemia	0.210243080196208	1	0	CTD_human
1401	CRP	C0311375	Arsenic Poisoning	0.2	1	0	CTD_human
1401	CRP	C0344315	Depressed mood	0.2	2	0	PSYGENET
1401	CRP	C0524620	Metabolic Syndrome X	0.21908549444834	1	0	CTD_human
1401	CRP	C0948089	Acute Coronary Syndrome	0.217408422988427	2	0	CTD_human
1401	CRP	C0993582	Arthritis, Experimental	0.2	1	0	CTD_human
1401	CRP	C1269683	Major Depressive Disorder	0.200824180352639	2	0	PSYGENET
1401	CRP	C1956346	Coronary Artery Disease	0.259499190424081	1	0	CTD_human
1401	CRP	C2239176	Liver carcinoma	0.206579087443797	1	0	CTD_human
1401	CRP	C3714514	Infection	0.216071590847357	1	0	CTD_human
1404	HAPLN1	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
1404	HAPLN1	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1404	HAPLN1	C0013336	Dwarfism	0.2	1	0	CTD_human
1404	HAPLN1	C0206762	Limb Deformities, Congenital	0.2	1	0	CTD_human
1404	HAPLN1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
140465	MYL6B	C0022548	Keloid	0.2	1	0	CTD_human
1406	CRX	C0009398	Color vision defect	0.2	0	0	HPO
1406	CRX	C0014065	Congenital cerebral hernia	0.2	0	0	HPO
1406	CRX	C0014544	Epilepsy	0.2	0	0	HPO
1406	CRX	C0017601	Glaucoma	0.2	0	0	HPO
1406	CRX	C0018777	Conductive hearing loss	0.2	0	0	HPO
1406	CRX	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1406	CRX	C0020459	Hyperinsulinism	0.2	0	0	HPO
1406	CRX	C0020619	Hypogonadism	0.2	0	0	HPO
1406	CRX	C0022578	Keratoconus	0.2	0	0	HPO
1406	CRX	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1406	CRX	C0026827	Muscle hypotonia	0.2	0	0	HPO
1406	CRX	C0028077	Night Blindness	0.2	0	0	HPO
1406	CRX	C0028738	Nystagmus	0.200274726784213	0	0	HPO
1406	CRX	C0028754	Obesity	0.2	0	0	HPO
1406	CRX	C0029089	Ophthalmoplegia	0.2	0	0	HPO
1406	CRX	C0029124	Optic Atrophy	0.2	0	0	HPO
1406	CRX	C0035304	Retinal Degeneration	0.2	1	0	CTD_human
1406	CRX	C0035334	Retinitis Pigmentosa	0.610099378481255	5	7	CTD_human;HPO;ORPHANET;UNIPROT
1406	CRX	C0036572	Seizures	0.2	0	0	HPO
1406	CRX	C0042798	Low Vision	0.200274726784213	0	0	HPO
1406	CRX	C0085636	Photophobia	0.2	0	0	HPO
1406	CRX	C0086543	Cataract	0.2	0	0	HPO
1406	CRX	C0234629	Abnormal color vision	0.2	0	0	HPO
1406	CRX	C0234632	Reduced visual acuity	0.2	0	0	HPO
1406	CRX	C0235095	Visual field constriction	0.2	0	0	HPO
1406	CRX	C0241688	Loss of peripheral vision	0.2	0	0	HPO
1406	CRX	C0266423	Congenital anomaly of testis	0.2	0	0	HPO
1406	CRX	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1406	CRX	C0271215	Blindness, Legal	0.2	0	0	HPO
1406	CRX	C0271388	Pendular Nystagmus	0.2	0	0	HPO
1406	CRX	C0339527	Leber Congenital Amaurosis	0.40439562854741	2	1	CTD_human;ORPHANET
1406	CRX	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
1406	CRX	C0423903	Low intelligence	0.2	0	0	HPO
1406	CRX	C0456909	Blind Vision	0.207872853452916	0	0	HPO
1406	CRX	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
1406	CRX	C0730290	Cone dystrophy	0.2	0	0	HPO
1406	CRX	C0917816	Mental deficiency	0.2	0	0	HPO
1406	CRX	C1301509	Severe visual impairment	0.200824180352639	0	0	HPO
1406	CRX	C1510497	Lens Opacities	0.2	0	0	HPO
1406	CRX	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1406	CRX	C1837249	Malformations of Cortical Development, Group II	0.2	0	0	HPO
1406	CRX	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1406	CRX	C1840077	Anteverted nostril	0.2	0	0	HPO
1406	CRX	C1843367	Poor school performance	0.2	0	0	HPO
1406	CRX	C1849367	Nasal bridge wide	0.2	0	0	HPO
1406	CRX	C1855676	Cerebellar vermis aplasia/ hypoplasia	0.2	0	0	HPO
1406	CRX	C1855685	Extinguished electroretinogram	0.2	0	0	HPO
1406	CRX	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1406	CRX	C2937228	Tunnel visual field constriction	0.2	0	0	HPO
1406	CRX	C3151192	LEBER CONGENITAL AMAUROSIS 7	0.28	3	4	UNIPROT
1406	CRX	C3280770	Cerebellar vermis aplasia or hypoplasia	0.2	0	0	HPO
1406	CRX	C3552853	Color vision defect, severe	0.2	0	0	HPO
1406	CRX	C3665347	Visual Impairment	0.2	0	0	HPO
1406	CRX	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1406	CRX	C3808249	Optic disc abnormalities	0.2	0	0	HPO
1406	CRX	C4020734	Nystagmus, continuous pendular	0.2	0	0	HPO
1406	CRX	C4020876	Dull intelligence	0.2	0	0	HPO
1406	CRX	C4020885	Difficulties with night vision	0.2	0	0	HPO
1406	CRX	C4020887	Photodysphoria	0.2	0	0	HPO
1406	CRX	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1406	CRX	C4021786	Atypical scarring of skin	0.2	0	0	HPO
1406	CRX	C4024753	Abnormality of the retinal vasculature	0.2	0	0	HPO
1406	CRX	C4024818	Night blindness, progressive	0.2	0	0	HPO
1406	CRX	C4048273	Chorioretinal atrophy	0.2	0	0	HPO
1406	CRX	C4072827	Cone/cone-rod dystrophy	0.2	0	0	HPO
140606	SELENOM	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
140609	NEK7	C0043094	Weight Gain	0.2	1	0	CTD_human
140628	GATA5	C0009404	Colorectal Neoplasms	0.202732912464814	1	0	CTD_human
140628	GATA5	C0018818	Ventricular Septal Defects	0.200824180352639	0	0	ORPHANET
140628	GATA5	C0039685	Tetralogy of Fallot	0.200549453568426	0	0	ORPHANET
140628	GATA5	C1843687	ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	0.2	0	0	ORPHANET
140683	BPIFA2	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
140691	TRIM69	C0344315	Depressed mood	0.2	1	0	PSYGENET
1407	CRY1	C0005586	Bipolar Disorder	0.205363510615002	3	0	PSYGENET
1407	CRY1	C0011570	Mental Depression	0.202681755307501	1	0	PSYGENET
1407	CRY1	C0011581	Depressive disorder	0.200274726784213	2	0	PSYGENET
1407	CRY1	C0023473	Myeloid Leukemia, Chronic	0.2	1	0	CTD_human
1407	CRY1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1407	CRY1	C0085159	Seasonal Affective Disorder	0.2	1	0	PSYGENET
140733	MACROD2	C0004352	Autistic Disorder	0.200549453568426	1	1	CTD_human
140733	MACROD2	C0023903	Liver neoplasms	0.2	1	0	CTD_human
140733	MACROD2	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
140738	TMEM37	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
140767	NRSN1	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
1408	CRY2	C0005586	Bipolar Disorder	0.207495812354077	4	0	PSYGENET
1408	CRY2	C0011570	Mental Depression	0.202956482091714	3	0	PSYGENET
1408	CRY2	C0011581	Depressive disorder	0.200549453568426	4	0	PSYGENET
1408	CRY2	C0023473	Myeloid Leukemia, Chronic	0.200274726784213	1	0	CTD_human
1408	CRY2	C0085159	Seasonal Affective Disorder	0.2	1	0	PSYGENET
140803	TRPM6	C1865974	Hypomagnesemia 1, Intestinal	0.604945082115836	2	6	CTD_human;ORPHANET;UNIPROT
140885	SIRPA	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
140902	R3HDML	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
140902	R3HDML	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1410	CRYAB	C0003578	Apnea	0.2	0	0	HPO
1410	CRYAB	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1410	CRYAB	C0007137	Squamous cell carcinoma	0.202732912464814	1	0	CTD_human
1410	CRYAB	C0007193	Cardiomyopathy, Dilated	0.20328236603324	0	0	HPO
1410	CRYAB	C0007194	Hypertrophic Cardiomyopathy	0.200274726784213	0	0	HPO
1410	CRYAB	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1410	CRYAB	C0009917	Contracture	0.2	0	0	HPO
1410	CRYAB	C0009918	Contracture of joint	0.2	0	0	HPO
1410	CRYAB	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1410	CRYAB	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1410	CRYAB	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
1410	CRYAB	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
1410	CRYAB	C0026837	Muscle Rigidity	0.2	0	0	HPO
1410	CRYAB	C0026850	Muscular Dystrophy	0.2	0	0	HPO
1410	CRYAB	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1410	CRYAB	C0040411	Tongue Neoplasms	0.2	1	0	CTD_human
1410	CRYAB	C0085684	Foot-drop	0.2	0	0	HPO
1410	CRYAB	C0086543	Cataract	0.41013618026125	1	0	CTD_human;HPO
1410	CRYAB	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1410	CRYAB	C0234860	Weak cry	0.2	0	0	HPO
1410	CRYAB	C0240479	Neck muscle weakness	0.2	0	0	HPO
1410	CRYAB	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1410	CRYAB	C0333068	Flexion contracture	0.2	0	0	HPO
1410	CRYAB	C0392557	Nuclear cataract	0.200274726784213	0	0	ORPHANET
1410	CRYAB	C0427065	Distal muscle weakness	0.2	0	0	HPO
1410	CRYAB	C0524851	Neurodegenerative Disorders	0.201098907136852	1	0	CTD_human
1410	CRYAB	C0544966	Autophagic vaculoes (finding)	0.2	0	0	HPO
1410	CRYAB	C1112705	Nuclear non-senile cataract	0.200274726784213	0	0	ORPHANET
1410	CRYAB	C1145670	Respiratory Failure	0.200274726784213	0	0	HPO
1410	CRYAB	C1510497	Lens Opacities	0.2	0	0	HPO
1410	CRYAB	C1836057	Muscle fiber splitting	0.2	0	0	HPO
1410	CRYAB	C1837317	Alpha-B Crystallinopathy	0.68	3	7	CTD_human;ORPHANET;UNIPROT
1410	CRYAB	C1837323	Hyporeflexia at ankle joints	0.2	0	0	HPO
1410	CRYAB	C1838681	Rapidly progressive	0.2	0	0	HPO
1410	CRYAB	C1850191	Posterior polar cataract	0.2	0	0	HPO
1410	CRYAB	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1410	CRYAB	C1850776	Rapidly progressive disorder	0.2	0	0	HPO
1410	CRYAB	C1853562	Adult onset	0.2	0	0	HPO
1410	CRYAB	C1854494	Slow progression	0.2	0	0	HPO
1410	CRYAB	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1410	CRYAB	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1410	CRYAB	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
1410	CRYAB	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
1410	CRYAB	C3151236	MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	0.2	0	0	ORPHANET
1410	CRYAB	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
1410	CRYAB	C3554649	CARDIOMYOPATHY, DILATED, 1II	0.2	2	2	UNIPROT
1410	CRYAB	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
1410	CRYAB	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1410	CRYAB	C3808377	CATARACT 16, MULTIPLE TYPES	0.28	0	0	ORPHANET
1410	CRYAB	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
1410	CRYAB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1410	CRYAB	C4021726	EMG: myopathic abnormalities	0.2	0	0	HPO
1410	CRYAB	C4025578	Late-onset proximal muscle weakness	0.2	0	0	HPO
1411	CRYBA1	C0009691	Congenital cataract	0.201373633921065	0	0	HPO
1411	CRYBA1	C0392557	Nuclear cataract	0.2	0	0	ORPHANET
1411	CRYBA1	C1112705	Nuclear non-senile cataract	0.2	0	0	ORPHANET
1411	CRYBA1	C1833229	Cataract, Congenital Zonular, with Sutural Opacities	0.28	0	0	CTD_human
1411	CRYBA1	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1411	CRYBA1	C3808377	CATARACT 16, MULTIPLE TYPES	0.2	0	0	ORPHANET
1411	CRYBA1	C4021560	Posterior Y-sutural cataract	0.2	0	0	HPO
1412	CRYBA2	C0009691	Congenital cataract	0.200549453568426	0	0	HPO
1412	CRYBA2	C0392557	Nuclear cataract	0.2	0	0	ORPHANET
1412	CRYBA2	C1112705	Nuclear non-senile cataract	0.2	0	0	ORPHANET
1412	CRYBA2	C1855179	CATARACT, ANTERIOR POLAR	0.2	0	0	ORPHANET
1412	CRYBA2	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1412	CRYBA2	C4011454	CATARACT 42	0.2	1	0	UNIPROT
1413	CRYBA4	C0027092	Myopia	0.2	0	0	HPO
1413	CRYBA4	C0086543	Cataract	0.201098907136852	0	0	HPO
1413	CRYBA4	C0266537	Congenital lamellar cataract	0.2	0	0	HPO
1413	CRYBA4	C0266544	Microcornea	0.2	0	0	HPO
1413	CRYBA4	C1167713	Corneal diameter decreased	0.2	0	0	HPO
1413	CRYBA4	C1510497	Lens Opacities	0.2	0	0	HPO
1413	CRYBA4	C1861829	Cataract microcornea syndrome	0.2	0	0	ORPHANET
1413	CRYBA4	C3808012	CATARACT 23	0.4	1	2	CTD_human;UNIPROT
1413	CRYBA4	C3808377	CATARACT 16, MULTIPLE TYPES	0.2	0	0	ORPHANET
1414	CRYBB1	C0009691	Congenital cataract	0.201923087489492	0	0	HPO
1414	CRYBB1	C0027092	Myopia	0.2	0	0	HPO
1414	CRYBB1	C0086543	Cataract	0.408748190962867	1	0	CTD_human;HPO
1414	CRYBB1	C0266544	Microcornea	0.2	0	0	HPO
1414	CRYBB1	C0392557	Nuclear cataract	0.4	0	0	HPO;ORPHANET
1414	CRYBB1	C1112705	Nuclear non-senile cataract	0.2	0	0	ORPHANET
1414	CRYBB1	C1167713	Corneal diameter decreased	0.2	0	0	HPO
1414	CRYBB1	C1510497	Lens Opacities	0.2	0	0	HPO
1414	CRYBB1	C1833118	Cataract, Pulverulent	0.200274726784213	0	0	ORPHANET
1414	CRYBB1	C1861829	Cataract microcornea syndrome	0.200549453568426	0	0	ORPHANET
1414	CRYBB1	C1969062	Cataract, Congenital Nuclear, Autosomal Recessive 3	0.2	0	0	CTD_human
1414	CRYBB1	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1414	CRYBB1	C3888124	CATARACT 17, MULTIPLE TYPES	0.2	1	0	UNIPROT
1414	CRYBB1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1415	CRYBB2	C0004364	Autoimmune Diseases	0.2	1	0	CTD_human
1415	CRYBB2	C0009691	Congenital cataract	0.202747267842131	0	0	HPO
1415	CRYBB2	C0027092	Myopia	0.2	0	0	HPO
1415	CRYBB2	C0042164	Uveitis	0.2	2	0	CTD_human
1415	CRYBB2	C0086543	Cataract	0.211770185589212	0	0	HPO
1415	CRYBB2	C0266539	Congenital total cataract	0.2	0	0	ORPHANET
1415	CRYBB2	C0266544	Microcornea	0.2	0	0	HPO
1415	CRYBB2	C0344523	Cataract, congenital, cerulean type 1	0.600549453568426	1	0	CTD_human;HPO;ORPHANET
1415	CRYBB2	C0392557	Nuclear cataract	0.200274726784213	0	0	ORPHANET
1415	CRYBB2	C1112705	Nuclear non-senile cataract	0.200274726784213	0	0	ORPHANET
1415	CRYBB2	C1167713	Corneal diameter decreased	0.2	0	0	HPO
1415	CRYBB2	C1510497	Lens Opacities	0.2	0	0	HPO
1415	CRYBB2	C1832175	Cataract, Congenital, Cerulean Type, 2	0.28	0	0	CTD_human
1415	CRYBB2	C1833118	Cataract, Pulverulent	0.2	0	0	ORPHANET
1415	CRYBB2	C1852438	CATARACT, COPPOCK-LIKE	0.2	0	0	CTD_human
1415	CRYBB2	C1861829	Cataract microcornea syndrome	0.2	0	0	ORPHANET
1415	CRYBB2	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1415	CRYBB2	C4023734	Sutural cataract	0.2	0	0	HPO
1417	CRYBB3	C0009691	Congenital cataract	0.200274726784213	0	0	HPO
1417	CRYBB3	C0392557	Nuclear cataract	0.4	0	0	HPO;ORPHANET
1417	CRYBB3	C1112705	Nuclear non-senile cataract	0.2	0	0	ORPHANET
1417	CRYBB3	C1855179	CATARACT, ANTERIOR POLAR	0.2	0	0	ORPHANET
1417	CRYBB3	C1857853	Cataract, Congenital Nuclear, Autosomal Recessive 2	0.4	2	2	CTD_human;UNIPROT
1417	CRYBB3	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1417	CRYBB3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
142	PARP1	C0002170	Alopecia	0.2	1	0	CTD_human
142	PARP1	C0002871	Anemia	0.200274726784213	1	0	CTD_human
142	PARP1	C0004096	Asthma	0.204604842796993	1	0	CTD_human
142	PARP1	C0004153	Atherosclerosis	0.200274726784213	1	0	CTD_human
142	PARP1	C0007786	Brain Ischemia	0.2	1	0	CTD_human
142	PARP1	C0011603	Dermatitis	0.200274726784213	1	0	CTD_human
142	PARP1	C0019158	Hepatitis	0.200274726784213	1	0	CTD_human
142	PARP1	C0021368	Inflammation	0.205465824929628	1	0	CTD_human
142	PARP1	C0022658	Kidney Diseases	0.2	2	0	CTD_human
142	PARP1	C0022821	Kyphosis deformity of spine	0.200274726784213	1	0	CTD_human
142	PARP1	C0026764	Multiple Myeloma	0.200824180352639	1	0	CTD_human
142	PARP1	C0028754	Obesity	0.200274726784213	1	0	CTD_human
142	PARP1	C0032285	Pneumonia	0.200274726784213	1	0	CTD_human
142	PARP1	C0033578	Prostatic Neoplasms	0.200549453568426	1	0	CTD_human
142	PARP1	C0038325	Stevens-Johnson Syndrome	0.2	1	0	CTD_human
142	PARP1	C0042842	Vitamin A Deficiency	0.2	1	0	CTD_human
142	PARP1	C0242422	Parkinsonian Disorders	0.2	1	0	CTD_human
142	PARP1	C0345967	Malignant mesothelioma	0.200549453568426	1	0	CTD_human
142	PARP1	C0878544	Cardiomyopathies	0.2	1	0	CTD_human
142	PARP1	C1458155	Mammary Neoplasms	0.206290005282267	1	0	CTD_human
142	PARP1	C2931673	Ceroid lipofuscinosis, neuronal 1, infantile	0.2	1	0	CTD_human
142	PARP1	C2936350	Plaque, Atherosclerotic	0.2	1	0	CTD_human
142	PARP1	C3714756	Intellectual Disability	0.2	1	0	CTD_human
1421	CRYGD	C0009691	Congenital cataract	0.203021994626344	0	0	HPO
1421	CRYGD	C0027092	Myopia	0.2	0	0	HPO
1421	CRYGD	C0086543	Cataract	0.41670091232773	1	0	CTD_human;HPO
1421	CRYGD	C0266544	Microcornea	0.2	0	0	HPO
1421	CRYGD	C0344523	Cataract, congenital, cerulean type 1	0.2	0	0	ORPHANET
1421	CRYGD	C0392557	Nuclear cataract	0.200549453568426	0	0	ORPHANET
1421	CRYGD	C1112705	Nuclear non-senile cataract	0.200549453568426	0	0	ORPHANET
1421	CRYGD	C1167713	Corneal diameter decreased	0.2	0	0	HPO
1421	CRYGD	C1392104	Coralliform cataract	0.200824180352639	0	0	ORPHANET
1421	CRYGD	C1510497	Lens Opacities	0.2	0	0	HPO
1421	CRYGD	C1833118	Cataract, Pulverulent	0.2	0	0	ORPHANET
1421	CRYGD	C1861829	Cataract microcornea syndrome	0.2	0	0	ORPHANET
1421	CRYGD	C3277059	Congenital Bilateral Cataracts	0.2	0	0	HPO
1421	CRYGD	C3540850	CATARACT 4, MULTIPLE TYPES	0.48	6	4	CTD_human;UNIPROT
1421	CRYGD	C3808377	CATARACT 16, MULTIPLE TYPES	0.2	0	0	ORPHANET
142680	SLC34A3	C1853271	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	0.600274726784213	2	10	CTD_human;ORPHANET;UNIPROT
142685	ASB15	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1427	CRYGS	C0086543	Cataract	0.201923087489492	1	0	CTD_human
1427	CRYGS	C0524524	Pseudoaphakia	0.2	0	0	HPO
1427	CRYGS	C3805410	CATARACT 20, MULTIPLE TYPES	0.28	1	1	UNIPROT
1427	CRYGS	C3808377	CATARACT 16, MULTIPLE TYPES	0.2	0	0	ORPHANET
1428	CRYM	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1428	CRYM	C4084708	DEAFNESS, AUTOSOMAL DOMINANT 40	0.2	1	2	UNIPROT
1429	CRYZ	C0036341	Schizophrenia	0.200824180352639	3	0	PSYGENET
1429	CRYZ	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
1429	CRYZ	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1429	CRYZ	C1269683	Major Depressive Disorder	0.2	1	0	PSYGENET
143	PARP4	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
143098	MPP7	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1431	CS	C0018801	Heart failure	0.2	1	0	CTD_human
1431	CS	C0028754	Obesity	0.2	1	0	CTD_human
1431	CS	C0242184	Hypoxia	0.2	1	0	CTD_human
1431	CS	C0878544	Cardiomyopathies	0.2	1	0	CTD_human
143187	VTI1A	C0001418	Adenocarcinoma	0.2	1	0	CTD_human
143187	VTI1A	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1432	MAPK14	C0008370	Cholestasis	0.2	1	0	CTD_human
1432	MAPK14	C0023473	Myeloid Leukemia, Chronic	0.201923087489492	1	0	CTD_human
1432	MAPK14	C0023903	Liver neoplasms	0.201098907136852	1	0	CTD_human
1432	MAPK14	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
1432	MAPK14	C0024809	Marijuana Abuse	0.200274726784213	1	0	PSYGENET
1432	MAPK14	C0036341	Schizophrenia	0.205363510615002	1	0	PSYGENET
1432	MAPK14	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1432	MAPK14	C0151744	Myocardial Ischemia	0.200549453568426	1	0	CTD_human
1432	MAPK14	C0233477	Dysphoric mood	0.2	1	0	PSYGENET
1432	MAPK14	C0338715	Drug-induced depressive state	0.2	1	0	PSYGENET
1432	MAPK14	C0878544	Cardiomyopathies	0.202732912464814	1	0	CTD_human
143458	LDLRAD3	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1435	CSF1	C0029401	Osteitis Deformans	0.20350593566014	1	0	CTD_human
1435	CSF1	C0345967	Malignant mesothelioma	0.200274726784213	1	0	CTD_human
1435	CSF1	C1458155	Mammary Neoplasms	0.201923087489492	1	0	CTD_human
1436	CSF1R	C0003635	Apraxias	0.2	0	0	HPO
1436	CSF1R	C0011581	Depressive disorder	0.2	0	0	HPO
1436	CSF1R	C0017639	Gliosis	0.2	0	0	HPO
1436	CSF1R	C0023467	Leukemia, Myelocytic, Acute	0.216729623082365	1	0	CTD_human
1436	CSF1R	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1436	CSF1R	C0026837	Muscle Rigidity	0.2	0	0	HPO
1436	CSF1R	C0026838	Muscle Spasticity	0.2	0	0	HPO
1436	CSF1R	C0026884	Mutism	0.2	0	0	HPO
1436	CSF1R	C0027627	Neoplasm Metastasis	0.204655999954305	1	0	CTD_human
1436	CSF1R	C0151889	Hyperreflexia	0.2	0	0	HPO
1436	CSF1R	C0231688	Gait, Shuffling	0.2	0	0	HPO
1436	CSF1R	C0233565	Bradykinesia	0.2	0	0	HPO
1436	CSF1R	C0233794	Memory impairment	0.2	0	0	HPO
1436	CSF1R	C0270612	Leukoencephalopathies	0.401648360705279	1	0	CTD_human;HPO
1436	CSF1R	C0338455	Dementia of frontal lobe type	0.2	0	0	HPO
1436	CSF1R	C0338474	Central nervous system demyelination	0.2	0	0	HPO
1436	CSF1R	C0542476	Forgetful	0.2	0	0	HPO
1436	CSF1R	C0751295	Memory Loss	0.2	0	0	HPO
1436	CSF1R	C0948163	Leukoaraiosis	0.2	0	0	HPO
1436	CSF1R	C1458155	Mammary Neoplasms	0.203007639249027	1	0	CTD_human
1436	CSF1R	C1838681	Rapidly progressive	0.2	0	0	HPO
1436	CSF1R	C1843921	Postural instability	0.2	0	0	HPO
1436	CSF1R	C1850496	Neuronal loss	0.2	0	0	HPO
1436	CSF1R	C1850776	Rapidly progressive disorder	0.2	0	0	HPO
1436	CSF1R	C1853562	Adult onset	0.2	0	0	HPO
1436	CSF1R	C3711381	Hereditary Diffuse Leukoencephalopathy with Spheroids	0.485494535684262	2	43	ORPHANET;UNIPROT
1436	CSF1R	C4020851	Cortical white matter abnormalities seen on MRI	0.2	0	0	HPO
143689	PIWIL4	C0028960	Oligospermia	0.202681755307501	1	0	CTD_human
1439	CSF2RB	C0013404	Dyspnea	0.2	0	0	HPO
1439	CSF2RB	C0033975	Psychotic Disorders	0.2	1	0	PSYGENET
1439	CSF2RB	C0034050	Pulmonary Alveolar Proteinosis	0.200274726784213	0	0	HPO
1439	CSF2RB	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1439	CSF2RB	C0036341	Schizophrenia	0.208045265922503	3	0	PSYGENET
1439	CSF2RB	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
1439	CSF2RB	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1439	CSF2RB	C1968602	Surfactant Metabolism Dysfunction, Pulmonary, 1	0.28	0	0	CTD_human
1439	CSF2RB	C2931035	Pulmonary alveolar proteinosis, congenital	0.2	0	0	ORPHANET
1439	CSF2RB	C4020855	Respiratory function loss	0.2	0	0	HPO
1439	CSF2RB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1440	CSF3	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1440	CSF3	C0001824	Agranulocytosis	0.201098907136852	1	0	CTD_human
1440	CSF3	C0002871	Anemia	0.200824180352639	3	0	CTD_human
1440	CSF3	C0002874	Aplastic Anemia	0.201923087489492	6	0	CTD_human
1440	CSF3	C0003862	Arthralgia	0.2	1	0	CTD_human
1440	CSF3	C0005695	Bladder Neoplasm	0.206290005282267	2	0	CTD_human
1440	CSF3	C0007131	Non-Small Cell Lung Carcinoma	0.200274726784213	1	0	CTD_human
1440	CSF3	C0007138	Carcinoma, Transitional Cell	0.2	2	0	CTD_human
1440	CSF3	C0007193	Cardiomyopathy, Dilated	0.2	1	0	CTD_human
1440	CSF3	C0011581	Depressive disorder	0.2	1	0	CTD_human
1440	CSF3	C0011991	Diarrhea	0.2	1	0	CTD_human
1440	CSF3	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0015967	Fever	0.2	1	0	CTD_human
1440	CSF3	C0016059	Fibrosis	0.2	2	0	CTD_human
1440	CSF3	C0017178	Gastrointestinal Diseases	0.2	1	0	CTD_human
1440	CSF3	C0018671	Head and Neck Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0018681	Headache	0.2	1	0	CTD_human
1440	CSF3	C0018799	Heart Diseases	0.2	1	0	CTD_human
1440	CSF3	C0018801	Heart failure	0.200274726784213	1	0	CTD_human
1440	CSF3	C0018923	Hemangiosarcoma	0.2	1	0	CTD_human
1440	CSF3	C0019156	Hepatic Veno-Occlusive Disease	0.2	1	0	CTD_human
1440	CSF3	C0019829	Hodgkin Disease	0.200274726784213	1	0	CTD_human
1440	CSF3	C0020433	Hyperbilirubinemia	0.2	1	0	CTD_human
1440	CSF3	C0020564	Hypertrophy	0.2	1	0	CTD_human
1440	CSF3	C0021308	Infarction	0.2	1	0	CTD_human
1440	CSF3	C0022658	Kidney Diseases	0.2	1	0	CTD_human
1440	CSF3	C0023269	leiomyosarcoma	0.2	1	0	CTD_human
1440	CSF3	C0023467	Leukemia, Myelocytic, Acute	0.219780328463343	1	0	CTD_human
1440	CSF3	C0023530	Leukopenia	0.212912158858016	4	0	CTD_human
1440	CSF3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1440	CSF3	C0023895	Liver diseases	0.2	1	0	CTD_human
1440	CSF3	C0023903	Liver neoplasms	0.200549453568426	1	0	CTD_human
1440	CSF3	C0024305	Lymphoma, Non-Hodgkin	0.201648360705279	1	0	CTD_human
1440	CSF3	C0025202	melanoma	0.201373633921065	2	0	CTD_human
1440	CSF3	C0026764	Multiple Myeloma	0.201373633921065	2	0	CTD_human
1440	CSF3	C0026848	Myopathy	0.2	1	0	CTD_human
1440	CSF3	C0027627	Neoplasm Metastasis	0.200824180352639	2	0	CTD_human
1440	CSF3	C0027765	nervous system disorder	0.2	1	0	CTD_human
1440	CSF3	C0027947	Neutropenia	0.215370344538616	12	0	CTD_human
1440	CSF3	C0030193	Pain	0.200549453568426	3	0	CTD_human
1440	CSF3	C0030312	Pancytopenia	0.200274726784213	2	0	CTD_human
1440	CSF3	C0031117	Peripheral Neuropathy	0.2	1	0	CTD_human
1440	CSF3	C0034069	Pulmonary Fibrosis	0.2	1	0	CTD_human
1440	CSF3	C0036420	Localized scleroderma	0.2	1	0	CTD_human
1440	CSF3	C0037286	Skin Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0037579	Soft Tissue Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0038325	Stevens-Johnson Syndrome	0.2	1	0	CTD_human
1440	CSF3	C0038362	Stomatitis	0.2	1	0	CTD_human
1440	CSF3	C0040034	Thrombocytopenia	0.200549453568426	2	0	CTD_human
1440	CSF3	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
1440	CSF3	C0042138	Uterine Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0079731	B-Cell Lymphomas	0.200274726784213	1	0	CTD_human
1440	CSF3	C0085090	Lymphoma, AIDS-Related	0.2	1	0	CTD_human
1440	CSF3	C0085183	Neoplasms, Second Primary	0.2	1	0	CTD_human
1440	CSF3	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
1440	CSF3	C0151786	Muscle Weakness	0.2	1	0	CTD_human
1440	CSF3	C0162557	Liver Failure, Acute	0.2	1	0	CTD_human
1440	CSF3	C0242698	Ventricular Dysfunction, Left	0.2	2	0	CTD_human
1440	CSF3	C0243026	Sepsis	0.208213092771759	1	0	CTD_human
1440	CSF3	C0282609	Bone Marrow Neoplasms	0.2	1	0	CTD_human
1440	CSF3	C0333355	Inflammatory disease of mucous membrane	0.2	2	0	CTD_human
1440	CSF3	C0752262	Somatosensory Disorders	0.2	1	0	CTD_human
1440	CSF3	C1458155	Mammary Neoplasms	0.200274726784213	8	0	CTD_human
1440	CSF3	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1441	CSF3R	C0019214	Hepatosplenomegaly	0.2	0	0	HPO
1441	CSF3R	C0023481	Chronic Neutrophilic Leukemia	0.205219808900049	0	0	ORPHANET
1441	CSF3R	C0023518	Leukocytosis	0.2	1	0	CTD_human
1441	CSF3R	C0543669	Neutrophilia, Hereditary	0.680824180352639	1	1	CTD_human;ORPHANET;UNIPROT
1441	CSF3R	C1292772	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	0.202197814273705	0	0	ORPHANET
1441	CSF3R	C1851971	Hypoplastic myelodysplasia	0.2	0	0	HPO
1441	CSF3R	C1858452	Thickened calvaria	0.2	0	0	HPO
1441	CSF3R	C3463824	MYELODYSPLASTIC SYNDROME	0.213078306975647	0	0	HPO
1441	CSF3R	C4024704	Elevated leukocyte alkaline phosphatase	0.2	0	0	HPO
1441	CSF3R	C4280560	Increased thickness of cranium	0.2	0	0	HPO
144100	PLEKHA7	C0017605	Angle Closure Glaucoma	0.200274726784213	2	0	CTD_human
144132	DNHD1	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
144165	PRICKLE1	C0751785	Unverricht-Lundborg Syndrome	0.200274726784213	0	0	ORPHANET
144165	PRICKLE1	C2676254	Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	0.4	1	4	CTD_human;UNIPROT
1442	CSH1	C0175693	Russell-Silver syndrome	0.200824180352639	1	0	CTD_human
1445	CSK	C0020429	Hyperalgesia	0.2	1	0	CTD_human
1445	CSK	C0024141	Lupus Erythematosus, Systemic	0.200549453568426	1	0	CTD_human
144568	A2ML1	C0028326	Noonan Syndrome	0.2	0	0	ORPHANET
144568	A2ML1	C0029882	Otitis Media	0.2	1	0	CTD_human
144577	C12orf66	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1447	CSN2	C0024667	Animal Mammary Neoplasms	0.2	2	0	CTD_human
1447	CSN2	C0024668	Mammary Neoplasms, Experimental	0.2	2	0	CTD_human
145173	B3GLCT	C0796012	Krause-Kivlin syndrome	0.402472541057918	1	6	CTD_human;ORPHANET
1452	CSNK1A1	C0023493	Adult T-Cell Lymphoma/Leukemia	0.2	1	0	CTD_human
1452	CSNK1A1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
145258	GSC	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
145258	GSC	C1865361	SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES	0.200824180352639	0	0	ORPHANET
145270	PRIMA1	C0026850	Muscular Dystrophy	0.200274726784213	1	0	CTD_human
145270	PRIMA1	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
145270	PRIMA1	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
145282	MIPOL1	C0152427	Polydactyly	0.2	1	0	CTD_human
145282	MIPOL1	C1851100	LAURIN-SANDROW SYNDROME	0.2	0	0	CTD_human
1453	CSNK1D	C0005586	Bipolar Disorder	0.205088783830789	1	0	PSYGENET
1453	CSNK1D	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
1453	CSNK1D	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
1453	CSNK1D	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1453	CSNK1D	C3807327	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1	0.2	0	0	ORPHANET
1453	CSNK1D	C3808874	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2	0.2	1	2	UNIPROT
1454	CSNK1E	C0005586	Bipolar Disorder	0.208319992706716	5	0	PSYGENET
1454	CSNK1E	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
1454	CSNK1E	C0036341	Schizophrenia	0.202956482091714	2	0	PSYGENET
1454	CSNK1E	C0349204	Nonorganic psychosis	0.200274726784213	1	0	PSYGENET
1457	CSNK2A1	C0007137	Squamous cell carcinoma	0.200274726784213	1	0	CTD_human
1457	CSNK2A1	C0023493	Adult T-Cell Lymphoma/Leukemia	0.2	1	0	CTD_human
1457	CSNK2A1	C0037286	Skin Neoplasms	0.2	1	0	CTD_human
145864	HAPLN3	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
145873	MESP2	C0265343	Jarcho-Levin syndrome	0.200824180352639	0	0	ORPHANET
145873	MESP2	C1837549	SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2	0.2	0	0	CTD_human
1459	CSNK2A2	C0007137	Squamous cell carcinoma	0.2	1	0	CTD_human
1459	CSNK2A2	C0037286	Skin Neoplasms	0.2	1	0	CTD_human
1460	CSNK2B	C0007137	Squamous cell carcinoma	0.2	1	0	CTD_human
1460	CSNK2B	C0023493	Adult T-Cell Lymphoma/Leukemia	0.2	1	0	CTD_human
1460	CSNK2B	C0037286	Skin Neoplasms	0.2	1	0	CTD_human
146057	TTBK2	C0087012	Ataxia, Spinocerebellar	0.20350593566014	1	0	CTD_human
146057	TTBK2	C1858351	SPINOCEREBELLAR ATAXIA 11	0.4	0	0	CTD_human;ORPHANET
146059	CDAN1	C0002876	Congenital dyserythropoietic anemia	0.207938365987545	0	0	CTD_human
146059	CDAN1	C0271933	Congenital dyserythropoietic anemia, type I	0.401648360705279	2	11	ORPHANET;UNIPROT
146167	SLC38A8	C3807873	FOVEAL HYPOPLASIA 2	0.4	2	4	ORPHANET;UNIPROT
146177	VWA3A	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
146183	OTOA	C1846896	Deafness, Autosomal Recessive 22	0.28	0	0	CTD_human
1462	VCAN	C0010606	Adenoid Cystic Carcinoma	0.2	1	0	CTD_human
1462	VCAN	C0014175	Endometriosis	0.2	1	0	CTD_human
1462	VCAN	C0017601	Glaucoma	0.2	0	0	HPO
1462	VCAN	C0027092	Myopia	0.2	0	0	HPO
1462	VCAN	C0029124	Optic Atrophy	0.2	0	0	HPO
1462	VCAN	C0036095	Salivary Gland Neoplasms	0.2	1	0	CTD_human
1462	VCAN	C0086543	Cataract	0.2	0	0	HPO
1462	VCAN	C0344290	Vitreoretinal degeneration	0.2	0	0	HPO
1462	VCAN	C1510497	Lens Opacities	0.2	0	0	HPO
1462	VCAN	C1840452	Hyaloideoretinal degeneration of Wagner	0.402747267842131	0	0	CTD_human;ORPHANET
1462	VCAN	C1840457	Loss of retinal pigment epithelium	0.2	0	0	HPO
1462	VCAN	C3665386	Abnormal vision	0.2	0	0	HPO
1462	VCAN	C3887875	Visual field defects	0.2	0	0	HPO
1462	VCAN	C4024825	Peripheral traction retinal detachment	0.2	0	0	HPO
1462	VCAN	C4048273	Chorioretinal atrophy	0.2	0	0	HPO
1462	VCAN	C4073118	Optically empty vitreous	0.2	0	0	HPO
146227	BEAN1	C1861736	SPINOCEREBELLAR ATAXIA 31 (disorder)	0.400549453568426	0	0	CTD_human;ORPHANET
146279	TEKT5	C0036341	Schizophrenia	0.2	1	0	CTD_human
1463	NCAN	C0005586	Bipolar Disorder	0.202472541057918	5	1	PSYGENET
1463	NCAN	C0005695	Bladder Neoplasm	0.2	1	0	CTD_human
1463	NCAN	C0036341	Schizophrenia	0.201373633921065	3	0	PSYGENET
146433	IL34	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1465	CSRP1	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1465	CSRP1	C0014173	Endometrial Hyperplasia	0.2	1	0	CTD_human
1465	CSRP1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1465	CSRP1	C0746402	manic symptom	0.2	1	0	PSYGENET
146664	MGAT5B	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1468	SLC25A10	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1468	SLC25A10	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
146845	CFAP52	C0266642	Situs ambiguus	0.2	0	0	ORPHANET
146862	UNC45B	C0018799	Heart Diseases	0.2	1	0	CTD_human
146862	UNC45B	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
146862	UNC45B	C0392557	Nuclear cataract	0.2	0	0	ORPHANET
146862	UNC45B	C0522224	Paralysed	0.2	1	0	CTD_human
146862	UNC45B	C1112705	Nuclear non-senile cataract	0.2	0	0	ORPHANET
146862	UNC45B	C4225389	CATARACT 43	0.2	1	1	UNIPROT
1469	CST1	C0018621	Hay fever	0.200274726784213	1	0	CTD_human
1469	CST1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1469	CST1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
147007	TMEM199	C4225190	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	0.4	1	4	ORPHANET;UNIPROT
1471	CST3	C0002395	Alzheimer's Disease	0.26617831493456	2	0	CTD_human
1471	CST3	C0007222	Cardiovascular Diseases	0.204055389228567	1	0	CTD_human
1471	CST3	C0022658	Kidney Diseases	0.206290005282267	2	0	CTD_human
1471	CST3	C0023467	Leukemia, Myelocytic, Acute	0.200274726784213	1	0	CTD_human
1471	CST3	C0025286	Meningioma	0.20328236603324	1	0	CTD_human
1471	CST3	C0029172	Oral Submucous Fibrosis	0.202681755307501	1	0	CTD_human
1471	CST3	C0038454	Cerebrovascular accident	0.201648360705279	0	0	HPO
1471	CST3	C0085220	Cerebral Amyloid Angiopathy	0.204930726738519	0	0	HPO
1471	CST3	C0151699	Intracranial Hemorrhages	0.2	0	0	HPO
1471	CST3	C0268393	Familial Cerebral Amyloid Angiopathy	0.200274726784213	1	0	CTD_human
1471	CST3	C0497327	Dementia	0.203231208875927	0	0	HPO
1471	CST3	C0553692	Brain hemorrhage	0.2	0	0	HPO
1471	CST3	C1527338	Hereditary Cerebral Amyloid Angiopathy, Icelandic Type	0.401923087489492	2	1	ORPHANET;UNIPROT
1471	CST3	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
1471	CST3	C1862968	Generalized amyloid deposition	0.2	0	0	HPO
1471	CST3	C2609414	Acute kidney injury	0.2	1	0	CTD_human
1471	CST3	C2677774	Age-Related Macular Degeneration type 11	0.4	2	1	CTD_human;UNIPROT
1471	CST3	C2937358	Cerebral Hemorrhage	0.202732912464814	0	0	HPO
147138	TMC8	C0014522	Epidermodysplasia Verruciformis	0.410410907045463	0	0	CTD_human;ORPHANET
147183	KRT25	C0343073	Wooly hair	0.2	0	0	ORPHANET
147183	KRT25	C0345427	Woolly hair, congenital	0.2	0	0	ORPHANET
147183	KRT25	C4225214	WOOLLY HAIR, AUTOSOMAL RECESSIVE 3	0.2	2	1	UNIPROT
147372	CCBE1	C0020305	Hydrops Fetalis	0.200274726784213	1	0	CTD_human
147372	CCBE1	C0282631	Facies	0.2	1	0	CTD_human
147372	CCBE1	C0340834	Hennekam lymphangiectasia lymphedema syndrome	0.4	2	6	CTD_human;ORPHANET
147372	CCBE1	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
147372	CCBE1	C4012050	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	0.2	2	5	UNIPROT
147381	CBLN2	C0020542	Pulmonary Hypertension	0.2	1	0	CTD_human
1474	CST6	C0007131	Non-Small Cell Lung Carcinoma	0.2	1	0	CTD_human
1474	CST6	C0025202	melanoma	0.2	1	0	CTD_human
1474	CST6	C0033578	Prostatic Neoplasms	0.200274726784213	1	0	CTD_human
1474	CST6	C1458155	Mammary Neoplasms	0.20984709809972	1	0	CTD_human
147409	DSG4	C0020678	Hypotrichosis	0.209022917747081	0	0	CTD_human
147409	DSG4	C0546966	Monilethrix	0.201648360705279	0	0	ORPHANET
147409	DSG4	C1854310	Hypotrichosis simplex	0.2	0	0	ORPHANET
147495	APCDD1	C1854310	Hypotrichosis simplex	0.600549453568426	1	1	CTD_human;ORPHANET;UNIPROT
1475	CSTA	C0013595	Eczema	0.200274726784213	0	0	HPO
1475	CSTA	C0016382	Flushing	0.2	0	0	HPO
1475	CSTA	C0017636	Glioblastoma	0.2	1	0	CTD_human
1475	CSTA	C0020757	Ichthyoses	0.200824180352639	0	0	HPO
1475	CSTA	C0022596	Palmoplantar Keratosis	0.2	0	0	HPO
1475	CSTA	C0023653	Lichenification	0.2	0	0	HPO
1475	CSTA	C0027627	Neoplasm Metastasis	0.203557092817453	1	0	CTD_human
1475	CSTA	C0041834	Erythema	0.2	0	0	HPO
1475	CSTA	C0237849	Peeling of skin	0.2	0	0	HPO
1475	CSTA	C0241054	Skin bulla	0.2	0	0	HPO
1475	CSTA	C1527304	Allergic Reaction	0.2	0	0	HPO
1475	CSTA	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1475	CSTA	C2220104	Blister of skin	0.2	0	0	HPO
1475	CSTA	C2931822	Nasopharyngeal carcinoma	0.200274726784213	1	0	CTD_human
1475	CSTA	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1475	CSTA	C4024665	High-grade hypermetropia	0.2	0	0	HPO
1476	CSTB	C0007758	Cerebellar Ataxia	0.201648360705279	0	0	HPO
1476	CSTB	C0013362	Dysarthria	0.2	0	0	HPO
1476	CSTB	C0014553	Absence Epilepsy	0.2	0	0	HPO
1476	CSTB	C0017636	Glioblastoma	0.2	1	0	CTD_human
1476	CSTB	C0025286	Meningioma	0.20328236603324	1	0	CTD_human
1476	CSTB	C0027066	Myoclonus	0.201648360705279	0	0	HPO
1476	CSTB	C0027626	Neoplasm Invasiveness	0.2	2	0	CTD_human
1476	CSTB	C0234985	Mental deterioration	0.2	0	0	HPO
1476	CSTB	C0279626	Squamous cell carcinoma of esophagus	0.2	1	0	CTD_human
1476	CSTB	C0494475	Tonic - clonic seizures	0.200274726784213	0	0	HPO
1476	CSTB	C0751785	Unverricht-Lundborg Syndrome	0.69236270528959	3	13	CTD_human;ORPHANET;UNIPROT
1476	CSTB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
147657	ZNF480	C0036341	Schizophrenia	0.2	1	0	CTD_human
147685	C19orf18	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
147906	DACT3	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
147929	ZNF565	C0036341	Schizophrenia	0.2	1	0	CTD_human
148022	TICAM1	C0032273	Pneumoconiosis	0.200274726784213	1	0	CTD_human
148022	TICAM1	C0035126	Reperfusion Injury	0.2	1	0	CTD_human
148022	TICAM1	C0035235	Respiratory Syncytial Virus Infections	0.200549453568426	1	0	CTD_human
148022	TICAM1	C0276226	Herpes encephalitis	0.200824180352639	0	0	ORPHANET
148022	TICAM1	C0477341	Encephalitis, myelitis and encephalomyelitis in viral diseases classified elsewhere	0.2	0	0	ORPHANET
148022	TICAM1	C2750180	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1	0.2	0	0	ORPHANET
148022	TICAM1	C3553869	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4	0.2	1	2	UNIPROT
148266	ZNF569	C0009404	Colorectal Neoplasms	0.200274726784213	1	0	CTD_human
148398	SAMD11	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1487	CTBP1	C0005745	Blepharoptosis	0.2	0	0	HPO
1487	CTBP1	C0008924	Cleft Lip	0.2	0	0	HPO
1487	CTBP1	C0008925	Cleft Palate	0.2	0	0	HPO
1487	CTBP1	C0009081	Congenital clubfoot	0.2	0	0	HPO
1487	CTBP1	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
1487	CTBP1	C0014544	Epilepsy	0.2	0	0	HPO
1487	CTBP1	C0015300	Exophthalmos	0.2	0	0	HPO
1487	CTBP1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1487	CTBP1	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1487	CTBP1	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1487	CTBP1	C0018834	Heartburn	0.2	0	0	HPO
1487	CTBP1	C0018916	Hemangioma	0.2	0	0	HPO
1487	CTBP1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1487	CTBP1	C0020608	Hypodontia	0.2	0	0	HPO
1487	CTBP1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1487	CTBP1	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1487	CTBP1	C0024032	Low Birth Weights	0.2	0	0	HPO
1487	CTBP1	C0025990	Micrognathism	0.2	0	0	HPO
1487	CTBP1	C0028738	Nystagmus	0.2	0	0	HPO
1487	CTBP1	C0034013	Precocious Puberty	0.2	0	0	HPO
1487	CTBP1	C0036572	Seizures	0.200274726784213	0	0	HPO
1487	CTBP1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
1487	CTBP1	C0037932	Curvature of spine	0.2	0	0	HPO
1487	CTBP1	C0038271	Stereotyped Behavior	0.2	0	0	HPO
1487	CTBP1	C0038273	Stereotypic Movement Disorder	0.2	0	0	HPO
1487	CTBP1	C0038379	Strabismus	0.2	0	0	HPO
1487	CTBP1	C0158761	Radioulnar Synostosis	0.2	0	0	HPO
1487	CTBP1	C0231246	Failure to gain weight	0.2	0	0	HPO
1487	CTBP1	C0231791	Toeing-in	0.2	0	0	HPO
1487	CTBP1	C0235659	Reduced fetal movement	0.2	0	0	HPO
1487	CTBP1	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
1487	CTBP1	C0239676	High forehead	0.2	0	0	HPO
1487	CTBP1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1487	CTBP1	C0240538	Convex nasal ridge	0.2	0	0	HPO
1487	CTBP1	C0265341	Rieger syndrome	0.2	0	0	HPO
1487	CTBP1	C0266610	Preauricular dimple	0.2	0	0	HPO
1487	CTBP1	C0266625	Preauricular sinus	0.2	0	0	HPO
1487	CTBP1	C0266631	Accessory spleen	0.2	0	0	HPO
1487	CTBP1	C0349588	Short stature	0.2	0	0	HPO
1487	CTBP1	C0395837	Stenosis of external auditory canal	0.2	0	0	HPO
1487	CTBP1	C0424688	Small head	0.2	0	0	HPO
1487	CTBP1	C0431371	Absence of septum pellucidum	0.2	0	0	HPO
1487	CTBP1	C0431483	Simple ear	0.2	0	0	HPO
1487	CTBP1	C0541764	Delayed bone age	0.2	0	0	HPO
1487	CTBP1	C0546969	Preauricular Fistulae, Congenital	0.2	0	0	HPO
1487	CTBP1	C0557874	Global developmental delay	0.2	0	0	HPO
1487	CTBP1	C0576860	Narrowing of ear canal	0.2	0	0	HPO
1487	CTBP1	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1487	CTBP1	C0700208	Acquired scoliosis	0.2	0	0	HPO
1487	CTBP1	C0857379	Auricular malformation	0.2	0	0	HPO
1487	CTBP1	C1271219	Congenital ectopic pupil	0.2	0	0	HPO
1487	CTBP1	C1386048	Intrauterine retardation	0.2	0	0	HPO
1487	CTBP1	C1835763	Vertebral body fusion	0.2	0	0	HPO
1487	CTBP1	C1837108	Decreased muscle mass	0.2	0	0	HPO
1487	CTBP1	C1837760	Prominent eyes	0.2	0	0	HPO
1487	CTBP1	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
1487	CTBP1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1487	CTBP1	C1839858	Periventricular cysts	0.2	0	0	HPO
1487	CTBP1	C1840380	Persistent cavum septum pellucidum	0.2	0	0	HPO
1487	CTBP1	C1844749	Rib fusion	0.2	0	0	HPO
1487	CTBP1	C1844825	Hyperconvex fingernails	0.2	0	0	HPO
1487	CTBP1	C1845112	Hyperkyphosis	0.2	0	0	HPO
1487	CTBP1	C1848490	Protruding eyes	0.2	0	0	HPO
1487	CTBP1	C1848977	Short upper lip	0.2	0	0	HPO
1487	CTBP1	C1849073	Fused vertebrae	0.2	0	0	HPO
1487	CTBP1	C1849367	Nasal bridge wide	0.2	0	0	HPO
1487	CTBP1	C1853237	Isolated cases	0.2	0	0	HPO
1487	CTBP1	C1855728	Low posterior hairline	0.2	0	0	HPO
1487	CTBP1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1487	CTBP1	C1857641	Severe postnatal growth retardation	0.2	0	0	HPO
1487	CTBP1	C1858120	Generalized hypotonia	0.2	0	0	HPO
1487	CTBP1	C1860243	Sternal ossification center abnormalities	0.2	0	0	HPO
1487	CTBP1	C1860244	Malrotation of small bowel	0.2	0	0	HPO
1487	CTBP1	C1860247	Prominent glabella	0.2	0	0	HPO
1487	CTBP1	C1860253	Accessory proximal metacarpal ossification centers	0.2	0	0	HPO
1487	CTBP1	C1860816	Preauricular skin tag	0.2	0	0	HPO
1487	CTBP1	C1861324	Short philtrum	0.2	0	0	HPO
1487	CTBP1	C1862425	Prominent globes	0.2	0	0	HPO
1487	CTBP1	C1864897	Cognitive delay	0.2	0	0	HPO
1487	CTBP1	C1866195	Downturned corners of mouth	0.2	0	0	HPO
1487	CTBP1	C1868571	Thick, flared eyebrows	0.2	0	0	HPO
1487	CTBP1	C1968999	Rib segmentation abnormalities	0.2	0	0	HPO
1487	CTBP1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1487	CTBP1	C2677762	Tall forehead	0.2	0	0	HPO
1487	CTBP1	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1487	CTBP1	C3278509	Spinal fusion	0.2	0	0	HPO
1487	CTBP1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1487	CTBP1	C4020849	Bowed and upward slanting eyebrows	0.2	0	0	HPO
1487	CTBP1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1487	CTBP1	C4025320	Craniofacial asymmetry	0.2	0	0	HPO
1487	CTBP1	C4072826	Skin tag on the posterior cheek	0.2	0	0	HPO
1487	CTBP1	C4082169	Metatarsus Varus	0.2	0	0	HPO
148789	B3GALNT2	C0265221	Walker-Warburg congenital muscular dystrophy	0.2	0	0	ORPHANET
148789	B3GALNT2	C0457133	Muscle eye brain disease	0.2	0	0	ORPHANET
148789	B3GALNT2	C3554638	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	0.2	1	6	UNIPROT
1488	CTBP2	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
148867	SLC30A7	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1489	CTF1	C0018800	Cardiomegaly	0.2	2	0	CTD_human
1489	CTF1	C0020443	Hypercholesterolemia	0.2	1	0	CTD_human
1489	CTF1	C0020649	Hypotension	0.2	1	0	CTD_human
1489	CTF1	C0021655	Insulin Resistance	0.2	1	0	CTD_human
1489	CTF1	C0022658	Kidney Diseases	0.2	1	0	CTD_human
1489	CTF1	C0027540	Necrosis	0.2	1	0	CTD_human
1489	CTF1	C0028754	Obesity	0.200274726784213	1	0	CTD_human
1490	CTGF	C0001418	Adenocarcinoma	0.20328236603324	1	0	CTD_human
1490	CTGF	C0003504	Aortic Valve Insufficiency	0.200274726784213	1	0	CTD_human
1490	CTGF	C0003862	Arthralgia	0.2	0	0	HPO
1490	CTGF	C0003864	Arthritis	0.200274726784213	0	0	HPO
1490	CTGF	C0003873	Rheumatoid Arthritis	0.201098907136852	1	0	CTD_human
1490	CTGF	C0004364	Autoimmune Diseases	0.2	0	0	HPO
1490	CTGF	C0009917	Contracture	0.200274726784213	0	0	HPO
1490	CTGF	C0009918	Contracture of joint	0.2	0	0	HPO
1490	CTGF	C0011168	Deglutition Disorders	0.2	0	0	HPO
1490	CTGF	C0011334	Dental caries	0.2	0	0	HPO
1490	CTGF	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1490	CTGF	C0013404	Dyspnea	0.2	0	0	HPO
1490	CTGF	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1490	CTGF	C0017668	Focal glomerulosclerosis	0.200274726784213	1	0	CTD_human
1490	CTGF	C0018801	Heart failure	0.201923087489492	1	0	CTD_human
1490	CTGF	C0018834	Heartburn	0.2	0	0	HPO
1490	CTGF	C0020538	Hypertensive disease	0.200274726784213	1	0	CTD_human
1490	CTGF	C0021361	Female infertility	0.2	1	0	CTD_human
1490	CTGF	C0023485	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	0.200549453568426	1	0	CTD_human
1490	CTGF	C0023890	Liver Cirrhosis	0.206462417751855	3	0	CTD_human
1490	CTGF	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1490	CTGF	C0024115	Lung diseases	0.2	2	0	CTD_human
1490	CTGF	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1490	CTGF	C0027498	Nausea and vomiting	0.2	0	0	HPO
1490	CTGF	C0028961	Oliguria	0.2	0	0	HPO
1490	CTGF	C0033054	Prenatal Exposure Delayed Effects	0.2	1	0	CTD_human
1490	CTGF	C0034069	Pulmonary Fibrosis	0.402747267842131	3	0	CTD_human;HPO
1490	CTGF	C0036421	Systemic Scleroderma	0.223075371142277	1	0	CTD_human
1490	CTGF	C0037299	Skin Ulcer	0.2	0	0	HPO
1490	CTGF	C0043352	Xerostomia	0.2	0	0	HPO
1490	CTGF	C0151786	Muscle Weakness	0.2	0	0	HPO
1490	CTGF	C0206138	CREST Syndrome	0.2	0	0	ORPHANET
1490	CTGF	C0221204	Lytic lesion	0.2	0	0	HPO
1490	CTGF	C0235833	Congenital diaphragmatic hernia	0.2	2	0	CTD_human
1490	CTGF	C0235896	Infiltrate of lung	0.2	0	0	HPO
1490	CTGF	C0333068	Flexion contracture	0.2	0	0	HPO
1490	CTGF	C0524909	Hepatitis B, Chronic	0.200824180352639	1	0	CTD_human
1490	CTGF	C0748540	Scleroderma, Limited	0.2	0	0	ORPHANET
1490	CTGF	C1258104	Diffuse Scleroderma	0.200274726784213	0	0	ORPHANET
1490	CTGF	C1384606	Dyspareunia	0.2	0	0	HPO
1490	CTGF	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1490	CTGF	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1490	CTGF	C3714745	Malabsorption	0.2	0	0	HPO
1490	CTGF	C4021910	Narrow foramen obturatorium	0.2	0	0	HPO
1490	CTGF	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
1490	CTGF	C4022020	Mucosal telangiectasiae	0.2	0	0	HPO
1490	CTGF	C4280623	Rotting teeth	0.2	0	0	HPO
1491	CTH	C0220993	Cystathioninuria	0.680824180352639	1	3	HPO;ORPHANET;UNIPROT
1491	CTH	C0268616	Gamma-cystathionase deficiency	0.400824180352639	0	0	CTD_human;ORPHANET
1491	CTH	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
149111	CNIH3	C0014175	Endometriosis	0.2	1	0	CTD_human
149111	CNIH3	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1493	CTLA4	C0000737	Abdominal Pain	0.2	0	0	HPO
1493	CTLA4	C0002170	Alopecia	0.2	0	0	HPO
1493	CTLA4	C0002171	Alopecia Areata	0.202407028523288	1	0	CTD_human
1493	CTLA4	C0002880	Autoimmune hemolytic anemia	0.205740551713841	0	0	HPO
1493	CTLA4	C0003862	Arthralgia	0.2	0	0	HPO
1493	CTLA4	C0003873	Rheumatoid Arthritis	0.29911346082225	2	1	CTD_human
1493	CTLA4	C0004364	Autoimmune Diseases	0.276528745640265	0	0	HPO
1493	CTLA4	C0005586	Bipolar Disorder	0.20328236603324	2	0	PSYGENET
1493	CTLA4	C0007114	Malignant neoplasm of skin	0.200549453568426	0	0	HPO
1493	CTLA4	C0007570	Celiac Disease	0.256103061587607	0	0	CTD_human
1493	CTLA4	C0007786	Brain Ischemia	0.202407028523288	0	0	HPO
1493	CTLA4	C0008031	Chest Pain	0.2	0	0	HPO
1493	CTLA4	C0010200	Coughing	0.2	0	0	HPO
1493	CTLA4	C0011606	Exfoliative dermatitis	0.2	0	0	HPO
1493	CTLA4	C0011991	Diarrhea	0.2	0	0	HPO
1493	CTLA4	C0013595	Eczema	0.201098907136852	0	0	HPO
1493	CTLA4	C0014591	Epistaxis	0.2	0	0	HPO
1493	CTLA4	C0015230	Exanthema	0.200274726784213	0	0	HPO
1493	CTLA4	C0015672	Fatigue	0.2	0	0	HPO
1493	CTLA4	C0015967	Fever	0.2	0	0	HPO
1493	CTLA4	C0016382	Flushing	0.2	0	0	HPO
1493	CTLA4	C0018133	Graft-vs-Host Disease	0.210452294445791	1	0	CTD_human
1493	CTLA4	C0018213	Graves Disease	0.309077972994637	3	0	CTD_human
1493	CTLA4	C0018965	Hematuria	0.2	0	0	HPO
1493	CTLA4	C0019079	Hemoptysis	0.2	0	0	HPO
1493	CTLA4	C0019209	Hepatomegaly	0.2	0	0	HPO
1493	CTLA4	C0021051	Immunologic Deficiency Syndromes	0.200549453568426	0	0	HPO
1493	CTLA4	C0022596	Palmoplantar Keratosis	0.2	0	0	HPO
1493	CTLA4	C0023493	Adult T-Cell Lymphoma/Leukemia	0.200274726784213	1	0	CTD_human
1493	CTLA4	C0023653	Lichenification	0.2	0	0	HPO
1493	CTLA4	C0024117	Chronic Obstructive Airway Disease	0.203231208875927	0	0	HPO
1493	CTLA4	C0025202	melanoma	0.217357265831114	1	0	CTD_human
1493	CTLA4	C0026948	Mycosis Fungoides	0.203007639249027	0	0	ORPHANET
1493	CTLA4	C0027498	Nausea and vomiting	0.2	0	0	HPO
1493	CTLA4	C0029172	Oral Submucous Fibrosis	0.202681755307501	1	0	CTD_human
1493	CTLA4	C0030469	Paranasal Sinus Diseases	0.2	0	0	HPO
1493	CTLA4	C0031117	Peripheral Neuropathy	0.200274726784213	1	0	CTD_human
1493	CTLA4	C0033687	Proteinuria	0.202407028523288	0	0	HPO
1493	CTLA4	C0033774	Pruritus	0.2	0	0	HPO
1493	CTLA4	C0034069	Pulmonary Fibrosis	0.200274726784213	0	0	HPO
1493	CTLA4	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1493	CTLA4	C0036341	Schizophrenia	0.205912964183428	3	0	PSYGENET
1493	CTLA4	C0036920	Sezary Syndrome	0.2	0	0	ORPHANET
1493	CTLA4	C0037199	Sinusitis	0.2	0	0	HPO
1493	CTLA4	C0037286	Skin Neoplasms	0.202407028523288	0	0	HPO
1493	CTLA4	C0038002	Splenomegaly	0.2	0	0	HPO
1493	CTLA4	C0041696	Unipolar Depression	0.200274726784213	2	0	PSYGENET
1493	CTLA4	C0041834	Erythema	0.2	0	0	HPO
1493	CTLA4	C0042384	Vasculitis	0.202407028523288	0	0	HPO
1493	CTLA4	C0079773	Lymphoma, T-Cell, Cutaneous	0.400549453568426	1	0	CTD_human;HPO
1493	CTLA4	C0086438	Hypogammaglobulinemia	0.2	0	0	HPO
1493	CTLA4	C0149754	Cellulitis of periorbital region	0.2	0	0	HPO
1493	CTLA4	C0151205	Periorbital edema	0.2	0	0	HPO
1493	CTLA4	C0151632	ESR raised	0.2	0	0	HPO
1493	CTLA4	C0151908	Dry skin	0.2	0	0	HPO
1493	CTLA4	C0221260	Dystrophia unguium	0.2	0	0	HPO
1493	CTLA4	C0235896	Infiltrate of lung	0.2	0	0	HPO
1493	CTLA4	C0241148	Cutaneous plaque	0.2	0	0	HPO
1493	CTLA4	C0242584	Autoimmune thrombocytopenia	0.2	0	0	HPO
1493	CTLA4	C0259817	Xerosis	0.2	0	0	HPO
1493	CTLA4	C0268731	Renal glomerular disease	0.2	0	0	HPO
1493	CTLA4	C0332563	Papule	0.2	0	0	HPO
1493	CTLA4	C0392777	Poikiloderma	0.2	0	0	HPO
1493	CTLA4	C0398650	Immune thrombocytopenic purpura	0.205638237399215	0	0	HPO
1493	CTLA4	C0424810	Periorbital swelling	0.2	0	0	HPO
1493	CTLA4	C0427546	Atypical lymphocyte observed	0.2	0	0	HPO
1493	CTLA4	C0497156	Lymphadenopathy	0.2	0	0	HPO
1493	CTLA4	C0521173	Granulomatosis	0.2	0	0	HPO
1493	CTLA4	C0677607	Hashimoto Disease	0.233326542363846	0	0	CTD_human
1493	CTLA4	C0742906	C-reactive protein increased	0.2	0	0	HPO
1493	CTLA4	C0917798	Cerebral Ischemia	0.2	0	0	HPO
1493	CTLA4	C0920163	Idiopathic thrombocytopenia	0.2	0	0	HPO
1493	CTLA4	C1262477	Weight decreased	0.2	0	0	HPO
1493	CTLA4	C1269683	Major Depressive Disorder	0.200274726784213	2	0	PSYGENET
1493	CTLA4	C1832392	DIABETES MELLITUS, INSULIN-DEPENDENT, 12	0.200274726784213	0	0	CTD_human
1493	CTLA4	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1493	CTLA4	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
1493	CTLA4	C3495559	Juvenile arthritis	0.205638237399215	1	0	CTD_human
1493	CTLA4	C3495801	Granulomatosis with polyangiitis	0.214009387263244	0	0	ORPHANET
1493	CTLA4	C3805919	Recurrent intrapulmonary hemorrhage	0.2	0	0	HPO
1493	CTLA4	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1493	CTLA4	C4015214	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V	0.4	1	6	ORPHANET;UNIPROT
1493	CTLA4	C4020855	Respiratory function loss	0.2	0	0	HPO
1493	CTLA4	C4020969	Inflammatory abnormality of the eye	0.2	0	0	HPO
1493	CTLA4	C4023452	Elevated C-reactive protein level	0.2	0	0	HPO
1493	CTLA4	C4025819	Abnormality of the hypothalamus-pituitary axis	0.2	0	0	HPO
1493	CTLA4	C4025887	Abnormality of the oral cavity	0.2	0	0	HPO
1493	CTLA4	C4048270	Decreased antibody level in blood	0.2	0	0	HPO
1495	CTNNA1	C0023467	Leukemia, Myelocytic, Acute	0.201098907136852	1	0	CTD_human
1495	CTNNA1	C1708349	Hereditary Diffuse Gastric Cancer	0.200824180352639	0	0	ORPHANET
1495	CTNNA1	C1837029	Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	0.28	1	4	UNIPROT
1495	CTNNA1	C1864690	Microphthalmia, Syndromic 5	0.2	0	0	ORPHANET
1495	CTNNA1	C1868569	Patterned dystrophy of retinal pigment epithelium	0.2	1	0	CTD_human
1495	CTNNA1	C3463824	MYELODYSPLASTIC SYNDROME	0.200824180352639	1	0	CTD_human
1496	CTNNA2	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
1496	CTNNA2	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1496	CTNNA2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
149628	PYHIN1	C0004096	Asthma	0.200824180352639	1	1	CTD_human
1497	CTNS	C0009806	Constipation	0.2	0	0	HPO
1497	CTNS	C0010043	Corneal Ulcer	0.2	0	0	HPO
1497	CTNS	C0011168	Deglutition Disorders	0.2	0	0	HPO
1497	CTNS	C0011175	Dehydration	0.2	0	0	HPO
1497	CTNS	C0011849	Diabetes Mellitus	0.200274726784213	0	0	HPO
1497	CTNS	C0017979	Glycosuria	0.2	0	0	HPO
1497	CTNS	C0019209	Hepatomegaly	0.2	0	0	HPO
1497	CTNS	C0020620	Hypohidrosis	0.2	0	0	HPO
1497	CTNS	C0020621	Hypokalemia	0.2	0	0	HPO
1497	CTNS	C0020625	Hyponatremia	0.2	0	0	HPO
1497	CTNS	C0021364	Male infertility	0.2	0	0	HPO
1497	CTNS	C0026848	Myopathy	0.2	0	0	HPO
1497	CTNS	C0030293	Pancreatic Insufficiency	0.2	0	0	HPO
1497	CTNS	C0032617	Polyuria	0.2	0	0	HPO
1497	CTNS	C0033687	Proteinuria	0.2	0	0	HPO
1497	CTNS	C0034012	Delayed Puberty	0.2	0	0	HPO
1497	CTNS	C0035078	Kidney Failure	0.2	0	0	HPO
1497	CTNS	C0035309	Retinal Diseases	0.200274726784213	0	0	HPO
1497	CTNS	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1497	CTNS	C0035579	Rickets	0.2	0	0	HPO
1497	CTNS	C0038002	Splenomegaly	0.2	0	0	HPO
1497	CTNS	C0041349	Nephritis, Tubulointerstitial	0.2	0	0	HPO
1497	CTNS	C0042798	Low Vision	0.2	0	0	HPO
1497	CTNS	C0042963	Vomiting	0.2	0	0	HPO
1497	CTNS	C0085602	Polydipsia	0.2	0	0	HPO
1497	CTNS	C0085636	Photophobia	0.200274726784213	0	0	HPO
1497	CTNS	C0085682	Hypophosphatemia	0.2	0	0	HPO
1497	CTNS	C0151686	Growth retardation	0.2	0	0	HPO
1497	CTNS	C0151747	Renal tubular disorder	0.2	0	0	HPO
1497	CTNS	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1497	CTNS	C0155119	Recurrent erosion of cornea	0.2	0	0	HPO
1497	CTNS	C0162835	Hypopigmentation disorder	0.2	0	0	HPO
1497	CTNS	C0221354	Frontal bossing	0.2	0	0	HPO
1497	CTNS	C0231246	Failure to gain weight	0.2	0	0	HPO
1497	CTNS	C0234632	Reduced visual acuity	0.2	0	0	HPO
1497	CTNS	C0234958	muscle degeneration	0.2	0	0	HPO
1497	CTNS	C0235946	Cerebral atrophy	0.2	0	0	HPO
1497	CTNS	C0237326	Dyschezia	0.2	0	0	HPO
1497	CTNS	C0238621	Aminoaciduria	0.2	0	0	HPO
1497	CTNS	C0239937	Microscopic hematuria	0.2	0	0	HPO
1497	CTNS	C0262361	abnormal growth	0.2	0	0	HPO
1497	CTNS	C0267963	Exocrine pancreatic insufficiency	0.2	0	0	HPO
1497	CTNS	C0268079	Hyperphosphaturia	0.2	0	0	HPO
1497	CTNS	C0268626	Juvenile nephropathic cystinosis (disorder)	0.600274726784213	3	2	CTD_human;ORPHANET;UNIPROT
1497	CTNS	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1497	CTNS	C0341703	Adult Fanconi syndrome	0.200274726784213	0	0	HPO
1497	CTNS	C0349588	Short stature	0.2	0	0	HPO
1497	CTNS	C0392525	Nephrolithiasis	0.2	0	0	HPO
1497	CTNS	C0426824	Beading of ribs	0.2	0	0	HPO
1497	CTNS	C0456070	Growth delay	0.2	0	0	HPO
1497	CTNS	C0541764	Delayed bone age	0.2	0	0	HPO
1497	CTNS	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1497	CTNS	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1497	CTNS	C0700502	Acquired hypothyroidism	0.2	0	0	HPO
1497	CTNS	C0857576	Abnormality of thyroid physiology	0.2	0	0	HPO
1497	CTNS	C0878787	Growth failure	0.2	0	0	HPO
1497	CTNS	C0948023	Urine phosphorous concentration above normal	0.2	0	0	HPO
1497	CTNS	C1096610	Corneal crystalline deposits	0.2	0	0	HPO
1497	CTNS	C1142132	Carnitine deficiency	0.2	0	0	HPO
1497	CTNS	C1565489	Renal Insufficiency	0.2	0	0	HPO
1497	CTNS	C1704375	Hypophosphatemic Rickets	0.2	0	0	HPO
1497	CTNS	C1837385	Poor growth	0.2	0	0	HPO
1497	CTNS	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1497	CTNS	C1839606	Low-molecular-weight proteinuria	0.2	0	0	HPO
1497	CTNS	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1497	CTNS	C1847868	Generalized aminoaciduria	0.2	0	0	HPO
1497	CTNS	C1849039	Metaphyseal widening	0.2	0	0	HPO
1497	CTNS	C1854838	Progressive neurologic deterioration	0.2	0	0	HPO
1497	CTNS	C1857644	Salt and pepper retinal pigmentation	0.2	0	0	HPO
1497	CTNS	C1859516	Recurrent episodes of acidosis	0.2	0	0	HPO
1497	CTNS	C1867873	Failure to thrive in infancy	0.2	0	0	HPO
1497	CTNS	C1969073	Hyperchloremic metabolic acidosis	0.2	0	0	HPO
1497	CTNS	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1497	CTNS	C2316810	Chronic kidney disease stage 5	0.2	0	0	HPO
1497	CTNS	C2931013	Cystinosis, benign, nonnephropathic	0.6	1	2	CTD_human;ORPHANET;UNIPROT
1497	CTNS	C2931187	Nephropathic cystinosis	0.70109654087514	10	37	CTD_human;ORPHANET;UNIPROT
1497	CTNS	C3278401	Hair hypopigmentation	0.2	0	0	HPO
1497	CTNS	C3552463	Very poor growth	0.2	0	0	HPO
1497	CTNS	C3665347	Visual Impairment	0.2	0	0	HPO
1497	CTNS	C4020843	Abnormal urinary amino-acid findings	0.2	0	0	HPO
1497	CTNS	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1497	CTNS	C4020887	Photodysphoria	0.2	0	0	HPO
1497	CTNS	C4020888	Epithelial corneal erosions	0.2	0	0	HPO
1497	CTNS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1497	CTNS	C4021776	Abnormality of the voice	0.2	0	0	HPO
1497	CTNS	C4022035	Abnormality of vitamin D metabolism	0.2	0	0	HPO
1497	CTNS	C4025623	Elevated intracellular cystine	0.2	0	0	HPO
1497	CTNS	C4025732	Tubulointerstitial abnormality	0.2	0	0	HPO
149775	GNAS-AS1	C0033805	Pseudohypoaldosteronism	0.2	0	0	CTD_human
1499	CTNNB1	C0000737	Abdominal Pain	0.2	0	0	HPO
1499	CTNNB1	C0001418	Adenocarcinoma	0.215862376597774	3	0	CTD_human
1499	CTNNB1	C0001430	Adenoma	0.21670091232773	2	0	CTD_human
1499	CTNNB1	C0001624	Adrenal Gland Neoplasms	0.200274726784213	1	0	CTD_human
1499	CTNNB1	C0007134	Renal Cell Carcinoma	0.201923087489492	0	0	HPO
1499	CTNNB1	C0007528	Cecal Neoplasms	0.2	1	0	CTD_human
1499	CTNNB1	C0007873	Uterine Cervical Neoplasm	0.200274726784213	1	0	CTD_human
1499	CTNNB1	C0009375	Colonic Neoplasms	0.23171039781823	9	0	CTD_human
1499	CTNNB1	C0009404	Colorectal Neoplasms	0.263853579512943	4	0	CTD_human
1499	CTNNB1	C0010276	Craniopharyngioma	0.401648360705279	1	0	CTD_human;ORPHANET
1499	CTNNB1	C0013377	Dysgerminoma	0.2	0	0	HPO
1499	CTNNB1	C0018681	Headache	0.2	0	0	HPO
1499	CTNNB1	C0018923	Hemangiosarcoma	0.2	1	0	CTD_human
1499	CTNNB1	C0020514	Hyperprolactinemia	0.2	0	0	HPO
1499	CTNNB1	C0021841	Intestinal Neoplasms	0.200549453568426	1	0	CTD_human
1499	CTNNB1	C0023882	Little's Disease	0.2	0	0	HPO
1499	CTNNB1	C0023890	Liver Cirrhosis	0.200824180352639	1	0	CTD_human
1499	CTNNB1	C0023903	Liver neoplasms	0.209246487373981	2	0	CTD_human
1499	CTNNB1	C0023904	Liver Neoplasms, Experimental	0.2	3	0	CTD_human
1499	CTNNB1	C0024121	Lung Neoplasms	0.205740551713841	1	0	CTD_human
1499	CTNNB1	C0025149	Medulloblastoma	0.607403267796437	3	2	CTD_human;HPO;UNIPROT
1499	CTNNB1	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1499	CTNNB1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1499	CTNNB1	C0026846	Muscular Atrophy	0.2	1	0	CTD_human
1499	CTNNB1	C0027498	Nausea and vomiting	0.2	0	0	HPO
1499	CTNNB1	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1499	CTNNB1	C0027708	Nephroblastoma	0.208711389182872	1	0	CTD_human
1499	CTNNB1	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1499	CTNNB1	C0028754	Obesity	0.200549453568426	0	0	HPO
1499	CTNNB1	C0030297	Pancreatic Neoplasm	0.205689394556528	1	0	CTD_human
1499	CTNNB1	C0030353	Papilledema	0.2	0	0	HPO
1499	CTNNB1	C0031149	Peritoneal Neoplasms	0.2	1	0	CTD_human
1499	CTNNB1	C0033578	Prostatic Neoplasms	0.222138026502723	1	0	CTD_human
1499	CTNNB1	C0036341	Schizophrenia	0.200824180352639	2	0	PSYGENET
1499	CTNNB1	C0037822	Speech Disorders	0.2	0	0	HPO
1499	CTNNB1	C0038325	Stevens-Johnson Syndrome	0.2	1	0	CTD_human
1499	CTNNB1	C0038356	Stomach Neoplasms	0.216397474788883	0	0	HPO
1499	CTNNB1	C0038379	Strabismus	0.2	0	0	HPO
1499	CTNNB1	C0079218	Fibromatosis, Aggressive	0.421045383717827	0	0	HPO;ORPHANET
1499	CTNNB1	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1499	CTNNB1	C0206624	Hepatoblastoma	0.208227448149076	1	3	CTD_human
1499	CTNNB1	C0206669	Hepatocellular Adenoma	0.201373633921065	1	0	CTD_human
1499	CTNNB1	C0206686	Adrenocortical carcinoma	0.200824180352639	1	0	CTD_human
1499	CTNNB1	C0206711	Pilomatrixoma	0.601648360705279	8	6	CTD_human;HPO;ORPHANET;UNIPROT
1499	CTNNB1	C0221184	Bitemporal Hemianopia	0.2	0	0	HPO
1499	CTNNB1	C0231528	Myalgia	0.2	0	0	HPO
1499	CTNNB1	C0232347	No-Reflow Phenomenon	0.2	1	0	CTD_human
1499	CTNNB1	C0267812	Micronodular cirrhosis	0.2	0	0	HPO
1499	CTNNB1	C0270685	Cerebral calcification	0.2	0	0	HPO
1499	CTNNB1	C0271623	Hypogonadotropic hypogonadism	0.2	0	0	HPO
1499	CTNNB1	C0279680	Transitional cell carcinoma of bladder	0.2	0	0	HPO
1499	CTNNB1	C0280631	Leiomyosarcoma of uterus	0.2	0	0	HPO
1499	CTNNB1	C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	0.202732912464814	1	0	CTD_human
1499	CTNNB1	C0342422	Pituitary gland enlarged	0.2	0	0	HPO
1499	CTNNB1	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
1499	CTNNB1	C0345967	Malignant mesothelioma	0.200549453568426	1	0	CTD_human
1499	CTNNB1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1499	CTNNB1	C0423903	Low intelligence	0.2	0	0	HPO
1499	CTNNB1	C0424688	Small head	0.2	0	0	HPO
1499	CTNNB1	C0544886	Somatic mutation	0.2	0	0	HPO
1499	CTNNB1	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1499	CTNNB1	C0678222	Breast Carcinoma	0.20439562854741	0	0	HPO
1499	CTNNB1	C0687720	Central Diabetes Insipidus	0.2	0	0	HPO
1499	CTNNB1	C0744333	Gastrointestinal polyps	0.2	0	0	HPO
1499	CTNNB1	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1499	CTNNB1	C0854021	Visual field tests abnormal	0.2	0	0	HPO
1499	CTNNB1	C0917816	Mental deficiency	0.2	0	0	HPO
1499	CTNNB1	C0919267	ovarian neoplasm	0.201098907136852	1	1	CTD_human
1499	CTNNB1	C0948387	Secondary Adrenal Insufficiency	0.2	0	0	HPO
1499	CTNNB1	C1140680	Malignant neoplasm of ovary	0.280274726784213	0	0	UNIPROT
1499	CTNNB1	C1257915	Intestinal Polyposis	0.2	0	0	HPO
1499	CTNNB1	C1458155	Mammary Neoplasms	0.217221655141522	2	0	CTD_human
1499	CTNNB1	C1527249	Colorectal Cancer	0.225771481827095	3	1	UNIPROT
1499	CTNNB1	C1720508	Retinal pigment epithelial abnormality	0.2	0	0	HPO
1499	CTNNB1	C1843367	Poor school performance	0.2	0	0	HPO
1499	CTNNB1	C1848924	Infantile onset	0.2	0	0	HPO
1499	CTNNB1	C1853141	Slow decrease in visual acuity	0.2	0	0	HPO
1499	CTNNB1	C1861901	Subacute progressive viral hepatitis	0.2	0	0	HPO
1499	CTNNB1	C1862475	Abnormality of retinal pigmentation	0.2	0	0	HPO
1499	CTNNB1	C1862761	Increased hepatocellular carcinoma risk	0.2	0	0	HPO
1499	CTNNB1	C1864897	Cognitive delay	0.2	0	0	HPO
1499	CTNNB1	C1865014	Long philtrum	0.2	0	0	HPO
1499	CTNNB1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
1499	CTNNB1	C1867955	Increased incidence of hepatocellular carcinoma	0.2	0	0	HPO
1499	CTNNB1	C1879526	Aberrant Crypt Foci	0.2	3	0	CTD_human
1499	CTNNB1	C2239176	Liver carcinoma	0.447333022738381	3	2	CTD_human;HPO
1499	CTNNB1	C2830004	Somnolence	0.2	0	0	HPO
1499	CTNNB1	C3278981	Decreased visual acuity, slowly progressive	0.2	0	0	HPO
1499	CTNNB1	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
1499	CTNNB1	C3554449	MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	0.4	1	6	ORPHANET;UNIPROT
1499	CTNNB1	C3665349	Secondary hypothyroidism	0.2	0	0	HPO
1499	CTNNB1	C3714745	Malabsorption	0.2	0	0	HPO
1499	CTNNB1	C3714756	Intellectual Disability	0.201098907136852	0	0	HPO
1499	CTNNB1	C4020813	Increased gastric cancer	0.2	0	0	HPO
1499	CTNNB1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1499	CTNNB1	C4020876	Dull intelligence	0.2	0	0	HPO
1499	CTNNB1	C4021095	Abnormal hypothalamus morphology	0.2	0	0	HPO
1499	CTNNB1	C4021250	Intracranial cystic lesion	0.2	0	0	HPO
1499	CTNNB1	C4021664	Abnormality of the abdominal wall	0.2	0	0	HPO
1499	CTNNB1	C4021745	Abnormality of the musculature	0.2	0	0	HPO
1499	CTNNB1	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1499	CTNNB1	C4023205	Neoplasm of the anterior pituitary	0.2	0	0	HPO
1499	CTNNB1	C4024760	Progressive visual field defects	0.2	0	0	HPO
1499	CTNNB1	C4024979	Ovarian papillary adenocarcinoma	0.2	0	0	HPO
1499	CTNNB1	C4024989	Hereditary nonpolyposis colorectal carcinoma	0.2	0	0	HPO
1499	CTNNB1	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
149998	LIPI	C0020480	Hyperlipoproteinemia Type IV	0.4	1	1	CTD_human;UNIPROT
15	AANAT	C0005587	Depression, Bipolar	0.200274726784213	1	0	PSYGENET
15	AANAT	C0011570	Mental Depression	0.202407028523288	1	0	PSYGENET
15	AANAT	C0011581	Depressive disorder	0.2	1	0	PSYGENET
15	AANAT	C0877792	Sleep Disorders, Circadian Rhythm	0.2	1	0	CTD_human
150084	IGSF5	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
150094	SIK1	C0007193	Cardiomyopathy, Dilated	0.2	1	0	CTD_human
150094	SIK1	C0037769	West Syndrome	0.200274726784213	0	0	ORPHANET
150094	SIK1	C0270855	Early myoclonic encephalopathy	0.200274726784213	0	0	ORPHANET
150094	SIK1	C0393706	Early infantile epileptic encephalopathy with suppression bursts	0.2	0	0	ORPHANET
150094	SIK1	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
150094	SIK1	C4225360	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30	0.2	1	5	UNIPROT
1501	CTNND2	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1501	CTNND2	C0007621	Neoplastic Cell Transformation	0.2	1	0	CTD_human
1501	CTNND2	C0010314	Cri-du-Chat Syndrome	0.401098907136852	0	0	CTD_human;ORPHANET
1501	CTNND2	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1501	CTNND2	C0017636	Glioblastoma	0.2	1	0	CTD_human
1501	CTNND2	C0020534	Orbital separation excessive	0.2	0	0	HPO
1501	CTNND2	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1501	CTNND2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1501	CTNND2	C0036341	Schizophrenia	0.205414667772315	1	0	PSYGENET
1501	CTNND2	C0036857	Severe mental retardation (I.Q. 20-34)	0.200274726784213	0	0	HPO
1501	CTNND2	C0037932	Curvature of spine	0.2	0	0	HPO
1501	CTNND2	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
1501	CTNND2	C0234861	Cri du chat	0.200274726784213	0	0	HPO
1501	CTNND2	C0239479	Round face	0.2	0	0	HPO
1501	CTNND2	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1501	CTNND2	C0241703	High pitched voice	0.2	0	0	HPO
1501	CTNND2	C0349588	Short stature	0.2	0	0	HPO
1501	CTNND2	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1501	CTNND2	C0424688	Small head	0.2	0	0	HPO
1501	CTNND2	C0521525	Short neck	0.2	0	0	HPO
1501	CTNND2	C0575802	Small hand	0.2	0	0	HPO
1501	CTNND2	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1501	CTNND2	C0700208	Acquired scoliosis	0.2	0	0	HPO
1501	CTNND2	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1501	CTNND2	C1386048	Intrauterine retardation	0.2	0	0	HPO
1501	CTNND2	C1837397	Global developmental delay, severe	0.2	0	0	HPO
1501	CTNND2	C1839546	Microretrognathia	0.2	0	0	HPO
1501	CTNND2	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1501	CTNND2	C1849367	Nasal bridge wide	0.2	0	0	HPO
1501	CTNND2	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
1501	CTNND2	C1856468	Round, full face	0.2	0	0	HPO
1501	CTNND2	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
1501	CTNND2	C2931860	Monosomy 5p	0.2	0	0	ORPHANET
1503	CTPS1	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1503	CTPS1	C0024312	Lymphopenia	0.2	0	0	HPO
1503	CTPS1	C4014617	IMMUNODEFICIENCY 24	0.2	0	0	ORPHANET
1503	CTPS1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1503	CTPS1	C4021545	Immunoglobulin IgG2 deficiency	0.2	0	0	HPO
1503	CTPS1	C4022557	Defective T cell proliferation	0.2	0	0	HPO
150468	CKAP2L	C0795940	Filippi syndrome	0.200274726784213	0	0	ORPHANET
1506	CTRL	C0036341	Schizophrenia	0.2	1	0	PSYGENET
150684	COMMD1	C0019189	Hepatitis, Chronic	0.200549453568426	2	0	CTD_human
150684	COMMD1	C0020517	Hypersensitivity	0.2	1	0	CTD_human
150684	COMMD1	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
150684	COMMD1	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
150684	COMMD1	C1876165	Copper-Overload Cirrhosis	0.2	1	0	CTD_human
1508	CTSB	C0007134	Renal Cell Carcinoma	0.200549453568426	1	0	CTD_human
1508	CTSB	C0017636	Glioblastoma	0.207663639203332	1	0	CTD_human
1508	CTSB	C0026848	Myopathy	0.2	1	0	CTD_human
1508	CTSB	C0027540	Necrosis	0.2	1	0	CTD_human
1508	CTSB	C0027626	Neoplasm Invasiveness	0.2	2	0	CTD_human
1508	CTSB	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1508	CTSB	C0033687	Proteinuria	0.2	1	0	CTD_human
1509	CTSD	C0003578	Apnea	0.2	0	0	HPO
1509	CTSD	C0003873	Rheumatoid Arthritis	0.200274726784213	1	0	CTD_human
1509	CTSD	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1509	CTSD	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1509	CTSD	C0010278	Craniosynostosis	0.2	0	0	HPO
1509	CTSD	C0022658	Kidney Diseases	0.2	1	0	CTD_human
1509	CTSD	C0026837	Muscle Rigidity	0.2	0	0	HPO
1509	CTSD	C0026838	Muscle Spasticity	0.2	0	0	HPO
1509	CTSD	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1509	CTSD	C0029408	Degenerative polyarthritis	0.200274726784213	1	0	CTD_human
1509	CTSD	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1509	CTSD	C0035304	Retinal Degeneration	0.2	0	0	HPO
1509	CTSD	C0035334	Retinitis Pigmentosa	0.2	0	0	HPO
1509	CTSD	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
1509	CTSD	C0038220	Status Epilepticus	0.2	0	0	HPO
1509	CTSD	C0043094	Weight Gain	0.2	1	0	CTD_human
1509	CTSD	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1509	CTSD	C0234985	Mental deterioration	0.2	0	0	HPO
1509	CTSD	C0235946	Cerebral atrophy	0.2	0	0	HPO
1509	CTSD	C0239234	Low set ears	0.2	0	0	HPO
1509	CTSD	C0262404	Cerebellar degeneration	0.2	0	0	HPO
1509	CTSD	C0277827	Early fontanel closure	0.2	0	0	HPO
1509	CTSD	C0424688	Small head	0.2	0	0	HPO
1509	CTSD	C0521694	Atrophic retina	0.2	0	0	HPO
1509	CTSD	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
1509	CTSD	C1145670	Respiratory Failure	0.200274726784213	0	0	HPO
1509	CTSD	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1509	CTSD	C1846149	Progressive mental retardation	0.2	0	0	HPO
1509	CTSD	C1849367	Nasal bridge wide	0.2	0	0	HPO
1509	CTSD	C1850496	Neuronal loss	0.2	0	0	HPO
1509	CTSD	C1857679	Sloping forehead	0.2	0	0	HPO
1509	CTSD	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
1509	CTSD	C1864669	NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY	0.68	2	6	CTD_human;ORPHANET;UNIPROT
1509	CTSD	C2239176	Liver carcinoma	0.201373633921065	1	0	CTD_human
1509	CTSD	C2752013	Prenatal onset	0.2	0	0	HPO
1509	CTSD	C3665386	Abnormal vision	0.2	0	0	HPO
1509	CTSD	C4020857	Neuronal lipopigments	0.2	0	0	HPO
1509	CTSD	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1509	CTSD	C4020873	Infratentorial atrophy	0.2	0	0	HPO
1509	CTSD	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1509	CTSD	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1509	CTSD	C4025728	Increased neuronal autofluorescent lipopigment	0.2	0	0	HPO
1509	CTSD	C4072853	Early closure of the bregma sutures	0.2	0	0	HPO
151056	PLB1	C0003873	Rheumatoid Arthritis	0.201098907136852	1	0	CTD_human
1512	CTSH	C0007384	Cataplexy	0.2	0	0	HPO
1512	CTSH	C0011854	Diabetes Mellitus, Insulin-Dependent	0.205638237399215	1	1	CTD_human
1512	CTSH	C0018524	Hallucinations	0.2	0	0	HPO
1512	CTSH	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
1512	CTSH	C0027404	Narcolepsy	0.200824180352639	0	0	ORPHANET
1512	CTSH	C0235153	Hallucinations, Sensory	0.2	0	0	HPO
1512	CTSH	C0338591	Amnesia, Transient Global	0.2	0	0	HPO
1512	CTSH	C0392188	Abnormal rapid eye movement sleep	0.2	0	0	HPO
1512	CTSH	C0694563	Excessive daytime somnolence	0.2	0	0	HPO
1512	CTSH	C0751362	Narcolepsy-Cataplexy Syndrome	0.2	0	0	ORPHANET
1512	CTSH	C4025846	Abnormality of vision	0.2	0	0	HPO
1513	CTSK	C0011334	Dental caries	0.2	0	0	HPO
1513	CTSK	C0015300	Exophthalmos	0.2	0	0	HPO
1513	CTSK	C0017636	Glioblastoma	0.2	1	0	CTD_human
1513	CTSK	C0020608	Hypodontia	0.2	0	0	HPO
1513	CTSK	C0025990	Micrognathism	0.2	0	0	HPO
1513	CTSK	C0029422	Osteochondrodysplasias	0.201098907136852	0	0	HPO
1513	CTSK	C0029464	Osteosclerosis	0.200274726784213	0	0	HPO
1513	CTSK	C0036341	Schizophrenia	0.200274726784213	2	0	PSYGENET
1513	CTSK	C0037932	Curvature of spine	0.2	0	0	HPO
1513	CTSK	C0038016	Spondylolisthesis	0.2	0	0	HPO
1513	CTSK	C0038018	Spondylolysis	0.2	0	0	HPO
1513	CTSK	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1513	CTSK	C0151825	Bone pain	0.2	0	0	HPO
1513	CTSK	C0158775	Congenital anomaly of spine	0.2	0	0	HPO
1513	CTSK	C0221204	Lytic lesion	0.2	0	0	HPO
1513	CTSK	C0221354	Frontal bossing	0.2	0	0	HPO
1513	CTSK	C0221356	Brachycephaly	0.2	0	0	HPO
1513	CTSK	C0221357	Brachydactyly	0.2	0	0	HPO
1513	CTSK	C0222716	Structure of wormian bone	0.2	0	0	HPO
1513	CTSK	C0238402	Pycnodysostosis	0.689065983879032	5	23	CTD_human;ORPHANET;UNIPROT
1513	CTSK	C0239174	Late tooth eruption	0.2	0	0	HPO
1513	CTSK	C0239676	High forehead	0.2	0	0	HPO
1513	CTSK	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1513	CTSK	C0262444	Dental abnormalities	0.2	0	0	HPO
1513	CTSK	C0266050	Failure of exfoliation of primary tooth	0.2	0	0	HPO
1513	CTSK	C0349588	Short stature	0.2	0	0	HPO
1513	CTSK	C0423820	Ridged nails	0.2	0	0	HPO
1513	CTSK	C0426415	Large nose	0.2	0	0	HPO
1513	CTSK	C0542514	Blue sclera	0.2	0	0	HPO
1513	CTSK	C0700208	Acquired scoliosis	0.2	0	0	HPO
1513	CTSK	C1398312	Narrow palate	0.2	0	0	HPO
1513	CTSK	C1400105	Hypertrophy of nose	0.2	0	0	HPO
1513	CTSK	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1513	CTSK	C1836195	Hypoplastic toes	0.2	0	0	HPO
1513	CTSK	C1837760	Prominent eyes	0.2	0	0	HPO
1513	CTSK	C1839829	Short distal phalanges	0.2	0	0	HPO
1513	CTSK	C1848490	Protruding eyes	0.2	0	0	HPO
1513	CTSK	C1849537	Persistent open anterior fontanelle	0.2	0	0	HPO
1513	CTSK	C1849538	Delayed eruption of primary teeth	0.2	0	0	HPO
1513	CTSK	C1849540	Delayed eruption of permanent teeth	0.2	0	0	HPO
1513	CTSK	C1849547	Acro-osteolysis of distal phalanges	0.2	0	0	HPO
1513	CTSK	C1853242	Midface retrusion	0.2	0	0	HPO
1513	CTSK	C1853737	Prominent occiput	0.2	0	0	HPO
1513	CTSK	C1855669	Absent frontal sinuses	0.2	0	0	HPO
1513	CTSK	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1513	CTSK	C1858085	Malar flattening	0.2	0	0	HPO
1513	CTSK	C1862425	Prominent globes	0.2	0	0	HPO
1513	CTSK	C2673410	Small midface	0.2	0	0	HPO
1513	CTSK	C2677762	Tall forehead	0.2	0	0	HPO
1513	CTSK	C3805574	Increased fracture rate	0.2	0	0	HPO
1513	CTSK	C3806283	Frequent fractures	0.2	0	0	HPO
1513	CTSK	C4020839	Multiple vertebral anomalies	0.2	0	0	HPO
1513	CTSK	C4020840	Abnormal vertebral bodies	0.2	0	0	HPO
1513	CTSK	C4020847	Abnormality of pelvic girdle bone morphology	0.2	0	0	HPO
1513	CTSK	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1513	CTSK	C4021525	Abnormal pelvis bone ossification	0.2	0	0	HPO
1513	CTSK	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1513	CTSK	C4021782	Abnormality of the fingernails	0.2	0	0	HPO
1513	CTSK	C4021792	Abnormality of the clavicle	0.2	0	0	HPO
1513	CTSK	C4021797	Abnormality of the thorax	0.2	0	0	HPO
1513	CTSK	C4072823	Broad cranium shape	0.2	0	0	HPO
1513	CTSK	C4072824	Wide skull shape	0.2	0	0	HPO
1513	CTSK	C4280320	Hypotrophic midface	0.2	0	0	HPO
1513	CTSK	C4280321	Decreased projection of midface	0.2	0	0	HPO
1513	CTSK	C4280402	Abnormal maturation of the pelvis bone	0.2	0	0	HPO
1513	CTSK	C4280559	Aplasia of frontal sinus	0.2	0	0	HPO
1513	CTSK	C4280567	Abnormal skeletal development	0.2	0	0	HPO
1513	CTSK	C4280623	Rotting teeth	0.2	0	0	HPO
1513	CTSK	C4280629	Hyperplasia of nose	0.2	0	0	HPO
1513	CTSK	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1513	CTSK	C4280652	Prominent back of the head	0.2	0	0	HPO
151354	FAM84A	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
151393	RMDN2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1514	CTSL	C0025286	Meningioma	0.203007639249027	1	0	CTD_human
1514	CTSL	C0033687	Proteinuria	0.2	1	0	CTD_human
1514	CTSL	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
151556	GPR155	C0004352	Autistic Disorder	0.2	1	0	CTD_human
151647	FAM19A4	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
151648	SGO1	C0003811	Cardiac Arrhythmia	0.28	1	0	CTD_human
151648	SGO1	C0021831	Intestinal Diseases	0.2	1	0	CTD_human
151648	SGO1	C0236811	Chronobiology Disorders	0.2	1	0	CTD_human
151648	SGO1	C4015474	CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA	0.400549453568426	1	1	ORPHANET;UNIPROT
151742	PPM1L	C0028754	Obesity	0.2	1	0	CTD_human
151887	CCDC80	C0011615	Dermatitis, Atopic	0.2	1	0	CTD_human
151887	CCDC80	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1520	CTSS	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1520	CTSS	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1520	CTSS	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1520	CTSS	C0028754	Obesity	0.20350593566014	1	0	CTD_human
152137	CCDC50	C1843895	Deafness, Autosomal Dominant 44	0.2	0	0	CTD_human
1522	CTSZ	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
1522	CTSZ	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1522	CTSZ	C1834752	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)	0.2	0	0	CTD_human
152273	FGD5	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1523	CUX1	C0041696	Unipolar Depression	0.200549453568426	3	0	PSYGENET
1523	CUX1	C0525045	Mood Disorders	0.2	1	0	PSYGENET
1523	CUX1	C0596263	Carcinogenesis	0.201098907136852	1	0	CTD_human
1523	CUX1	C1269683	Major Depressive Disorder	0.201098907136852	3	0	PSYGENET
152330	CNTN4	C0001973	Alcoholic Intoxication, Chronic	0.202681755307501	1	0	PSYGENET
152330	CNTN4	C0004352	Autistic Disorder	0.20350593566014	1	0	CTD_human
152330	CNTN4	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
152330	CNTN4	C0008073	Developmental Disabilities	0.2	1	0	CTD_human
152330	CNTN4	C0018273	Growth Disorders	0.2	1	0	CTD_human
152330	CNTN4	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
152330	CNTN4	C0795806	Chromosome 3, monosomy 3p	0.2	0	0	ORPHANET
1525	CXADR	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
152518	NFXL1	C0008370	Cholestasis	0.2	1	0	CTD_human
152518	NFXL1	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
152573	SHISA3	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
152789	JAKMIP1	C0004352	Autistic Disorder	0.28	1	0	CTD_human
1528	CYB5A	C0010417	Cryptorchidism	0.2	0	0	HPO
1528	CYB5A	C0010520	Cyanosis	0.2	0	0	HPO
1528	CYB5A	C0013390	Dysmenorrhea	0.2	0	0	HPO
1528	CYB5A	C0014175	Endometriosis	0.2	1	0	CTD_human
1528	CYB5A	C0025637	Methemoglobinemia	0.200824180352639	0	0	HPO
1528	CYB5A	C0028754	Obesity	0.2	1	0	CTD_human
1528	CYB5A	C0029456	Osteoporosis	0.2	0	0	HPO
1528	CYB5A	C0034012	Delayed Puberty	0.2	0	0	HPO
1528	CYB5A	C0035222	Respiratory Distress Syndrome, Adult	0.2	1	0	CTD_human
1528	CYB5A	C0151639	Decreased fertility in females	0.2	0	0	HPO
1528	CYB5A	C0151640	Decreased male fertility	0.2	0	0	HPO
1528	CYB5A	C0232939	Primary physiologic amenorrhea	0.2	0	0	HPO
1528	CYB5A	C0238395	Male Pseudohermaphroditism	0.2	0	0	HPO
1528	CYB5A	C0241011	Low serum estradiol levels	0.2	0	0	HPO
1528	CYB5A	C0241355	Small testicle	0.2	0	0	HPO
1528	CYB5A	C0266399	Infantile uterus	0.2	0	0	HPO
1528	CYB5A	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1528	CYB5A	C0268285	Adrenal hyperplasia, congenital, type 5	0.2	0	0	ORPHANET
1528	CYB5A	C0272087	Congenital Methemoglobinemia	0.200274726784213	0	0	ORPHANET
1528	CYB5A	C0345309	Hypoplasia of vagina	0.2	0	0	HPO
1528	CYB5A	C0349588	Short stature	0.2	0	0	HPO
1528	CYB5A	C0541764	Delayed bone age	0.2	0	0	HPO
1528	CYB5A	C0948896	Primary hypogonadism	0.2	0	0	HPO
1528	CYB5A	C1295654	Decreased testosterone level	0.2	0	0	HPO
1528	CYB5A	C1442988	Rudimentary vagina	0.2	0	0	HPO
1528	CYB5A	C1691215	Penile hypospadias	0.2	0	0	HPO
1528	CYB5A	C1848924	Infantile onset	0.2	0	0	HPO
1528	CYB5A	C1858573	Sparse pubic hair	0.2	0	0	HPO
1528	CYB5A	C1858574	Sparse axillary hair	0.2	0	0	HPO
1528	CYB5A	C1859014	Primary gonadal insufficiency	0.2	0	0	HPO
1528	CYB5A	C1862863	Sparse body hair	0.2	0	0	HPO
1528	CYB5A	C2673427	METHEMOGLOBINEMIA TYPE IV	0.2	0	0	CTD_human
1528	CYB5A	C4020731	Abnormality of creatine metabolism	0.2	0	0	HPO
1528	CYB5A	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1528	CYB5A	C4021550	Elevated follicle stimulating hormone	0.2	0	0	HPO
1528	CYB5A	C4021551	Absence of secondary sex characteristics	0.2	0	0	HPO
1528	CYB5A	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1528	CYB5A	C4023101	Elevated luteinizing hormone	0.2	0	0	HPO
1528	CYB5A	C4024641	Enlarged polycystic ovaries	0.2	0	0	HPO
1528	CYB5A	C4073137	Low serum testosterone levels	0.2	0	0	HPO
152926	PPM1K	C1621920	Intermediate Maple Syrup Urine Disease	0.2	0	0	ORPHANET
153020	RASGEF1B	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
153090	DAB2IP	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
153090	DAB2IP	C0027051	Myocardial Infarction	0.202407028523288	1	0	CTD_human
153090	DAB2IP	C0033578	Prostatic Neoplasms	0.208473464178654	1	0	CTD_human
153090	DAB2IP	C0034065	Pulmonary Embolism	0.2	1	0	CTD_human
153090	DAB2IP	C0085096	Peripheral Vascular Diseases	0.2	1	0	CTD_human
153090	DAB2IP	C0162871	Aortic Aneurysm, Abdominal	0.201098907136852	1	1	CTD_human
153129	SLC38A9	C0023903	Liver neoplasms	0.2	1	0	CTD_human
153201	SLC36A2	C0268654	Iminoglycinuria	0.600274726784213	0	0	CTD_human;ORPHANET;UNIPROT
153201	SLC36A2	C0543541	HYPERGLYCINURIA (disorder)	0.4	1	1	CTD_human;UNIPROT
153241	CEP120	C0265275	Jeune thoracic dystrophy	0.200274726784213	0	0	ORPHANET
153241	CEP120	C4225378	SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	0.2	1	1	UNIPROT
1535	CYBA	C0004153	Atherosclerosis	0.225662903160513	1	0	CTD_human
1535	CYBA	C0011853	Diabetes Mellitus, Experimental	0.28	2	0	CTD_human
1535	CYBA	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.215057137242784	1	0	CTD_human
1535	CYBA	C0013595	Eczema	0.2	0	0	HPO
1535	CYBA	C0014836	Escherichia coli Infections	0.2	0	0	HPO
1535	CYBA	C0015967	Fever	0.2	0	0	HPO
1535	CYBA	C0018203	Chronic granulomatous disease	0.408227448149076	1	1	CTD_human;ORPHANET
1535	CYBA	C0018799	Heart Diseases	0.202681755307501	1	0	CTD_human
1535	CYBA	C0019209	Hepatomegaly	0.2	0	0	HPO
1535	CYBA	C0020538	Hypertensive disease	0.24727041709246	3	0	CTD_human
1535	CYBA	C0022661	Kidney Failure, Chronic	0.208645876648242	1	0	CTD_human
1535	CYBA	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
1535	CYBA	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1535	CYBA	C0024117	Chronic Obstructive Airway Disease	0.202681755307501	0	0	HPO
1535	CYBA	C0024138	Lupus Erythematosus, Discoid	0.2	0	0	HPO
1535	CYBA	C0024205	Lymphadenitis	0.2	0	0	HPO
1535	CYBA	C0029882	Otitis Media	0.2	0	0	HPO
1535	CYBA	C0030469	Paranasal Sinus Diseases	0.2	0	0	HPO
1535	CYBA	C0034194	Pyloric Stenosis	0.2	0	0	HPO
1535	CYBA	C0037199	Sinusitis	0.2	0	0	HPO
1535	CYBA	C0038002	Splenomegaly	0.2	0	0	HPO
1535	CYBA	C0040588	Tracheoesophageal Fistula	0.2	0	0	HPO
1535	CYBA	C0149770	Rectal abscess	0.2	0	0	HPO
1535	CYBA	C0267566	Perirectal abscess	0.2	0	0	HPO
1535	CYBA	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1535	CYBA	C0427515	Neutrophil abnormality	0.2	0	0	HPO
1535	CYBA	C0497156	Lymphadenopathy	0.2	0	0	HPO
1535	CYBA	C0520743	Mediastinal lymphadenopathy	0.2	0	0	HPO
1535	CYBA	C0521173	Granulomatosis	0.2	0	0	HPO
1535	CYBA	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1535	CYBA	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1535	CYBA	C0876973	Infectious disease of lung	0.2	0	0	HPO
1535	CYBA	C1565489	Renal Insufficiency	0.2	1	0	CTD_human
1535	CYBA	C1835686	Recurrent bacterial skin infections	0.2	0	0	HPO
1535	CYBA	C1842774	Hyperpigmented macules	0.2	0	0	HPO
1535	CYBA	C1844380	Hepatic abscesses due to immunodeficiency	0.2	0	0	HPO
1535	CYBA	C1844382	Cellulitis due to immunodeficiency	0.2	0	0	HPO
1535	CYBA	C1844385	Absence of bactericidal oxidative 'respiratory burst' in phagocytes	0.2	0	0	HPO
1535	CYBA	C1844390	Deficiency or absence of cytochrome b(-245)	0.2	0	0	HPO
1535	CYBA	C1844394	Decreased activity of NADPH oxidase	0.2	0	0	HPO
1535	CYBA	C1856255	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	0.4	5	12	CTD_human;UNIPROT
1535	CYBA	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1535	CYBA	C2673462	Recurrent Staphylococcus aureus infections	0.2	0	0	HPO
1535	CYBA	C3714745	Malabsorption	0.2	0	0	HPO
1535	CYBA	C3806330	Osteomyelitis due to immunodeficiency	0.2	0	0	HPO
1535	CYBA	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1535	CYBA	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1535	CYBA	C4021751	Recurrent Klebsiella infections	0.2	0	0	HPO
1535	CYBA	C4021752	Recurrent Aspergillus infections	0.2	0	0	HPO
1535	CYBA	C4025673	Recurrent Burkholderia cepacia infections	0.2	0	0	HPO
1535	CYBA	C4025682	Recurrent Serratia marcescens infections	0.2	0	0	HPO
1535	CYBA	C4280805	Negative nitroblue tetrazolium reduction test	0.2	0	0	HPO
153562	MARVELD2	C1857811	DEAFNESS, AUTOSOMAL RECESSIVE 49	0.280274726784213	0	0	CTD_human
153572	IRX2	C0024115	Lung diseases	0.2	1	0	CTD_human
153572	IRX2	C0334488	Clear cell sarcoma of kidney	0.200274726784213	0	0	ORPHANET
1536	CYBB	C0011849	Diabetes Mellitus	0.201098907136852	1	0	CTD_human
1536	CYBB	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1536	CYBB	C0013595	Eczema	0.2	0	0	HPO
1536	CYBB	C0014836	Escherichia coli Infections	0.2	0	0	HPO
1536	CYBB	C0015967	Fever	0.2	0	0	HPO
1536	CYBB	C0018203	Chronic granulomatous disease	0.451445833476217	2	2	CTD_human;ORPHANET
1536	CYBB	C0018801	Heart failure	0.200274726784213	1	0	CTD_human
1536	CYBB	C0019209	Hepatomegaly	0.2	0	0	HPO
1536	CYBB	C0020538	Hypertensive disease	0.201098907136852	2	0	CTD_human
1536	CYBB	C0022658	Kidney Diseases	0.200274726784213	1	0	CTD_human
1536	CYBB	C0022661	Kidney Failure, Chronic	0.2	1	0	CTD_human
1536	CYBB	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1536	CYBB	C0024117	Chronic Obstructive Airway Disease	0.202407028523288	0	0	HPO
1536	CYBB	C0024138	Lupus Erythematosus, Discoid	0.200274726784213	0	0	HPO
1536	CYBB	C0024205	Lymphadenitis	0.200274726784213	0	0	HPO
1536	CYBB	C0027055	Myocardial Reperfusion Injury	0.2	1	0	CTD_human
1536	CYBB	C0029882	Otitis Media	0.2	0	0	HPO
1536	CYBB	C0030469	Paranasal Sinus Diseases	0.2	0	0	HPO
1536	CYBB	C0033687	Proteinuria	0.2	1	0	CTD_human
1536	CYBB	C0034194	Pyloric Stenosis	0.2	0	0	HPO
1536	CYBB	C0035126	Reperfusion Injury	0.2	1	0	CTD_human
1536	CYBB	C0037199	Sinusitis	0.2	0	0	HPO
1536	CYBB	C0038002	Splenomegaly	0.2	0	0	HPO
1536	CYBB	C0040588	Tracheoesophageal Fistula	0.2	0	0	HPO
1536	CYBB	C0149770	Rectal abscess	0.2	0	0	HPO
1536	CYBB	C0267566	Perirectal abscess	0.2	0	0	HPO
1536	CYBB	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1536	CYBB	C0427515	Neutrophil abnormality	0.2	0	0	HPO
1536	CYBB	C0497156	Lymphadenopathy	0.2	0	0	HPO
1536	CYBB	C0520743	Mediastinal lymphadenopathy	0.2	0	0	HPO
1536	CYBB	C0521173	Granulomatosis	0.2	0	0	HPO
1536	CYBB	C0694550	Recurrent pneumonia	0.2	0	0	HPO
1536	CYBB	C0748140	Multiple pulmonary infections	0.2	0	0	HPO
1536	CYBB	C0751955	Brain Infarction	0.2	1	0	CTD_human
1536	CYBB	C0876973	Infectious disease of lung	0.200274726784213	0	0	HPO
1536	CYBB	C1833487	Varicella, Severe Recurrent	0.2	0	0	HPO
1536	CYBB	C1835686	Recurrent bacterial skin infections	0.2	0	0	HPO
1536	CYBB	C1842774	Hyperpigmented macules	0.2	0	0	HPO
1536	CYBB	C1844376	Granulomatous Disease, Chronic, X-Linked	0.297307787405425	20	61	UNIPROT
1536	CYBB	C1844380	Hepatic abscesses due to immunodeficiency	0.2	0	0	HPO
1536	CYBB	C1844382	Cellulitis due to immunodeficiency	0.2	0	0	HPO
1536	CYBB	C1844385	Absence of bactericidal oxidative 'respiratory burst' in phagocytes	0.2	0	0	HPO
1536	CYBB	C1844390	Deficiency or absence of cytochrome b(-245)	0.2	0	0	HPO
1536	CYBB	C1844394	Decreased activity of NADPH oxidase	0.2	0	0	HPO
1536	CYBB	C1845977	X- linked recessive	0.2	0	0	HPO
1536	CYBB	C1859117	Recurrent pulmonary infections	0.2	0	0	HPO
1536	CYBB	C1970859	Atypical Mycobacteriosis, Familial, X-Linked 2	0.4	1	2	ORPHANET;UNIPROT
1536	CYBB	C2673462	Recurrent Staphylococcus aureus infections	0.2	0	0	HPO
1536	CYBB	C3714745	Malabsorption	0.2	0	0	HPO
1536	CYBB	C3806330	Osteomyelitis due to immunodeficiency	0.2	0	0	HPO
1536	CYBB	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1536	CYBB	C4021751	Recurrent Klebsiella infections	0.2	0	0	HPO
1536	CYBB	C4021752	Recurrent Aspergillus infections	0.2	0	0	HPO
1536	CYBB	C4023438	Recurrent mycobacterial infections	0.2	0	0	HPO
1536	CYBB	C4025673	Recurrent Burkholderia cepacia infections	0.2	0	0	HPO
1536	CYBB	C4025682	Recurrent Serratia marcescens infections	0.2	0	0	HPO
1536	CYBB	C4280805	Negative nitroblue tetrazolium reduction test	0.2	0	0	HPO
1537	CYC1	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1537	CYC1	C0086565	Liver Dysfunction	0.2	0	0	HPO
1537	CYC1	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1537	CYC1	C0162557	Liver Failure, Acute	0.2	0	0	HPO
1537	CYC1	C0220982	Ketoacidosis	0.2	0	0	HPO
1537	CYC1	C0220994	Hyperammonemia	0.2	0	0	HPO
1537	CYC1	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1537	CYC1	C0347959	Lactic acidemia	0.2	0	0	HPO
1537	CYC1	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1537	CYC1	C0438717	Transaminases increased	0.2	0	0	HPO
1537	CYC1	C0877359	Liver function test increased	0.2	0	0	HPO
1537	CYC1	C1836440	Increased serum lactate	0.2	0	0	HPO
1537	CYC1	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1537	CYC1	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1537	CYC1	C1859860	Ketoacidosis, episodic	0.2	0	0	HPO
1537	CYC1	C3809553	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	0.2	1	2	UNIPROT
1537	CYC1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1540	CYLD	C0007114	Malignant neoplasm of skin	0.200549453568426	0	0	HPO
1540	CYLD	C0007131	Non-Small Cell Lung Carcinoma	0.2	1	0	CTD_human
1540	CYLD	C0023860	Listeriosis	0.2	1	0	CTD_human
1540	CYLD	C0037286	Skin Neoplasms	0.201373633921065	0	0	HPO
1540	CYLD	C0040100	Thymoma	0.2	1	0	CTD_human
1540	CYLD	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1540	CYLD	C0332563	Papule	0.2	0	0	HPO
1540	CYLD	C0345996	Milium Cyst	0.2	0	0	HPO
1540	CYLD	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1540	CYLD	C1275122	Familial multiple trichoepitheliomata	0.403846174978983	1	2	ORPHANET;UNIPROT
1540	CYLD	C1305968	Eccrine dermal cylindroma	0.205219808900049	1	0	CTD_human
1540	CYLD	C1851526	Ancell-Spiegler cylindromas	0.2	0	0	ORPHANET
1540	CYLD	C1853562	Adult onset	0.2	0	0	HPO
1540	CYLD	C1857941	Brooke-Spiegler syndrome	0.206043989252688	0	0	UNIPROT
1540	CYLD	C2239176	Liver carcinoma	0.207114185634906	1	0	CTD_human
1540	CYLD	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
154215	NKAIN2	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
154288	KHDC3L	C0334529	Hydatidiform Mole, Partial	0.2	0	0	ORPHANET
154288	KHDC3L	C0678213	Complete hydatidiform mole	0.200549453568426	0	0	ORPHANET
1543	CYP1A1	C0000786	Spontaneous abortion	0.202407028523288	2	0	CTD_human
1543	CYP1A1	C0003860	Arteritis	0.2	1	0	CTD_human
1543	CYP1A1	C0005612	Birth Weight	0.2	1	0	CTD_human
1543	CYP1A1	C0011609	Drug Eruptions	0.2	1	0	CTD_human
1543	CYP1A1	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1543	CYP1A1	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1543	CYP1A1	C0018552	Hamartoma	0.200274726784213	1	0	CTD_human
1543	CYP1A1	C0018800	Cardiomegaly	0.2	1	0	CTD_human
1543	CYP1A1	C0020517	Hypersensitivity	0.202407028523288	1	0	CTD_human
1543	CYP1A1	C0020538	Hypertensive disease	0.204604842796993	2	0	CTD_human
1543	CYP1A1	C0021364	Male infertility	0.211877085524169	1	0	CTD_human
1543	CYP1A1	C0022665	Kidney Neoplasm	0.202407028523288	1	0	CTD_human
1543	CYP1A1	C0023976	Long QT Syndrome	0.2	1	0	CTD_human
1543	CYP1A1	C0024117	Chronic Obstructive Airway Disease	0.213734660479031	1	0	CTD_human
1543	CYP1A1	C0028797	Occupational Diseases	0.202407028523288	1	0	CTD_human
1543	CYP1A1	C0033578	Prostatic Neoplasms	0.216672201573096	2	0	CTD_human
1543	CYP1A1	C0039239	Sinus Tachycardia	0.2	1	0	CTD_human
1543	CYP1A1	C0085096	Peripheral Vascular Diseases	0.2	1	0	CTD_human
1543	CYP1A1	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1543	CYP1A1	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
1543	CYP1A1	C0242706	Hyperoxia	0.2	1	0	CTD_human
1543	CYP1A1	C0273115	Lung Injury	0.2	2	0	CTD_human
1543	CYP1A1	C0428977	Bradycardia	0.2	1	0	CTD_human
1543	CYP1A1	C1449861	Micronuclei, Chromosome-Defective	0.2	1	0	CTD_human
1543	CYP1A1	C1458155	Mammary Neoplasms	0.239583251271145	1	0	CTD_human
1543	CYP1A1	C2239176	Liver carcinoma	0.214704221278248	1	0	CTD_human
1545	CYP1B1	C0001430	Adenoma	0.202681755307501	1	0	CTD_human
1545	CYP1B1	C0007137	Squamous cell carcinoma	0.213408776537506	1	0	CTD_human
1545	CYP1B1	C0009404	Colorectal Neoplasms	0.20754696951139	1	0	CTD_human
1545	CYP1B1	C0010038	Corneal Opacity	0.2	0	0	HPO
1545	CYP1B1	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1545	CYP1B1	C0018800	Cardiomegaly	0.28	1	0	CTD_human
1545	CYP1B1	C0020302	Hydrophthalmos	0.415462889096257	0	0	HPO;ORPHANET
1545	CYP1B1	C0024121	Lung Neoplasms	0.208147580237129	1	0	CTD_human
1545	CYP1B1	C0025202	melanoma	0.2	1	0	CTD_human
1545	CYP1B1	C0026640	Mouth Neoplasms	0.2	1	0	CTD_human
1545	CYP1B1	C0033578	Prostatic Neoplasms	0.211206376643468	1	0	CTD_human
1545	CYP1B1	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1545	CYP1B1	C0234708	Raised intraocular pressure	0.2	0	0	HPO
1545	CYP1B1	C0339573	Glaucoma, Primary Open Angle	0.406868169605328	7	9	CTD_human;UNIPROT
1545	CYP1B1	C0344559	Irido-corneo-trabecular dysgenesis (disorder)	0.601373633921066	0	0	CTD_human;HPO;ORPHANET
1545	CYP1B1	C0423221	Globe of eye large	0.2	0	0	HPO
1545	CYP1B1	C0521719	Clouding of corneal stroma	0.2	0	0	HPO
1545	CYP1B1	C0919267	ovarian neoplasm	0.205465824929628	1	0	CTD_human
1545	CYP1B1	C1458155	Mammary Neoplasms	0.316300885237905	2	0	CTD_human
1545	CYP1B1	C1533041	Primary congenital glaucoma	0.22740716588668	0	0	HPO
1545	CYP1B1	C1842028	GLAUCOMA 1, OPEN ANGLE, A	0.4	8	1	CTD_human;UNIPROT
1545	CYP1B1	C1856439	GLAUCOMA 3, PRIMARY CONGENITAL, A	0.68	20	23	CTD_human;ORPHANET;UNIPROT
1545	CYP1B1	C1856441	Late onset congenital glaucoma	0.2	0	0	HPO
1545	CYP1B1	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.200274726784213	1	0	CTD_human
1545	CYP1B1	C2981140	Glaucoma of childhood	0.201648360705279	0	0	ORPHANET
1545	CYP1B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
154664	ABCA13	C0005586	Bipolar Disorder	0.202681755307501	1	0	PSYGENET
154664	ABCA13	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
154664	ABCA13	C0036341	Schizophrenia	0.202681755307501	1	1	PSYGENET
1548	CYP2A6	C0001418	Adenocarcinoma	0.203557092817453	1	0	CTD_human
1548	CYP2A6	C0006111	Brain Diseases	0.2	1	0	CTD_human
1548	CYP2A6	C0009404	Colorectal Neoplasms	0.205740551713841	1	0	CTD_human
1548	CYP2A6	C0018939	Hematological Disease	0.2	0	0	HPO
1548	CYP2A6	C0019163	Hepatitis B	0.2	1	0	CTD_human
1548	CYP2A6	C0019196	Hepatitis C	0.200274726784213	1	0	CTD_human
1548	CYP2A6	C0023897	Liver Diseases, Parasitic	0.2	1	0	CTD_human
1548	CYP2A6	C0024121	Lung Neoplasms	0.21328752122523	6	0	CTD_human
1548	CYP2A6	C0024809	Marijuana Abuse	0.200274726784213	1	0	PSYGENET
1548	CYP2A6	C0027439	Nasopharyngeal Neoplasms	0.2	1	0	CTD_human
1548	CYP2A6	C0029106	Opisthorchiasis	0.2	1	0	CTD_human
1548	CYP2A6	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1548	CYP2A6	C0034067	Pulmonary Emphysema	0.200274726784213	1	0	CTD_human
1548	CYP2A6	C0038356	Stomach Neoplasms	0.2	2	0	CTD_human
1548	CYP2A6	C0040336	Tobacco Use Disorder	0.204814057046576	3	0	CTD_human
1548	CYP2A6	C0206704	Carcinoma, Large Cell	0.2	1	0	CTD_human
1548	CYP2A6	C0262584	Carcinoma, Small Cell	0.200274726784213	1	0	CTD_human
1548	CYP2A6	C0279626	Squamous cell carcinoma of esophagus	0.200549453568426	1	0	CTD_human
1548	CYP2A6	C0750384	Coumarin Resistance	0.2	0	0	CTD_human
1548	CYP2A6	C0850715	Abnormality of blood and blood-forming tissues	0.2	0	0	HPO
1548	CYP2A6	C1861063	TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)	0.2	2	0	CTD_human
1548	CYP2A6	C4020864	Abnormality of the haematopoietic system	0.2	0	0	HPO
1548	CYP2A6	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1548	CYP2A6	C4277682	Chemical and Drug Induced Liver Injury	0.28	1	0	CTD_human
154881	KCTD7	C2673257	EPILEPSY, PROGRESSIVE MYOCLONIC 3	0.6	4	7	CTD_human;ORPHANET;UNIPROT
155	ADRB3	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
155	ADRB3	C0018801	Heart failure	0.202681755307501	2	0	CTD_human
155	ADRB3	C0020473	Hyperlipidemia	0.205088783830789	1	0	CTD_human
155	ADRB3	C0028754	Obesity	0.306099044500245	0	0	CTD_human
155	ADRB3	C0036341	Schizophrenia	0.202956482091714	1	0	PSYGENET
155	ADRB3	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
155	ADRB3	C0149721	Left Ventricular Hypertrophy	0.202407028523288	1	0	CTD_human
155	ADRB3	C0525045	Mood Disorders	0.2	1	0	PSYGENET
155	ADRB3	C1269683	Major Depressive Disorder	0.200274726784213	1	0	PSYGENET
1557	CYP2C19	C0007222	Cardiovascular Diseases	0.218772287152508	1	0	CTD_human
1557	CYP2C19	C0011570	Mental Depression	0.210727021230004	4	0	PSYGENET
1557	CYP2C19	C0011581	Depressive disorder	0.201098907136852	4	0	PSYGENET
1557	CYP2C19	C0022661	Kidney Failure, Chronic	0.200274726784213	1	0	CTD_human
1557	CYP2C19	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1557	CYP2C19	C0040053	Thrombosis	0.209628114093152	1	0	CTD_human
1557	CYP2C19	C0041696	Unipolar Depression	0.201373633921065	5	0	PSYGENET
1557	CYP2C19	C0085215	Ovarian Failure, Premature	0.202681755307501	1	0	CTD_human
1557	CYP2C19	C0740858	Substance abuse problem	0.200274726784213	1	0	PSYGENET
1557	CYP2C19	C1269683	Major Depressive Disorder	0.201373633921065	5	0	PSYGENET
1557	CYP2C19	C1836023	Drug Metabolism, Poor, CYP2C19-Related	0.4	0	0	CTD_human;ORPHANET
1557	CYP2C19	C2609414	Acute kidney injury	0.2	1	0	CTD_human
1557	CYP2C19	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1557	CYP2C19	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1558	CYP2C8	C0022658	Kidney Diseases	0.200274726784213	1	0	CTD_human
1558	CYP2C8	C0027765	nervous system disorder	0.2	1	0	CTD_human
1558	CYP2C8	C0035410	Rhabdomyolysis	0.2	1	0	CTD_human
1558	CYP2C8	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.2	1	0	CTD_human
1559	CYP2C9	C0006118	Brain Neoplasms	0.200274726784213	1	0	CTD_human
1559	CYP2C9	C0013182	Drug Allergy	0.204814057046576	1	0	CTD_human
1559	CYP2C9	C0018939	Hematological Disease	0.202407028523288	0	0	HPO
1559	CYP2C9	C0019080	Hemorrhage	0.234024283267558	4	0	CTD_human
1559	CYP2C9	C0027707	Nephritis, Interstitial	0.2	1	0	CTD_human
1559	CYP2C9	C0027765	nervous system disorder	0.2	1	0	CTD_human
1559	CYP2C9	C0030922	Peptic Ulcer Hemorrhage	0.202407028523288	1	0	CTD_human
1559	CYP2C9	C0041696	Unipolar Depression	0.200824180352639	4	1	PSYGENET
1559	CYP2C9	C0041755	Adverse reaction to drug	0.2	2	0	CTD_human
1559	CYP2C9	C0750384	Coumarin Resistance	0.200824180352639	0	0	CTD_human
1559	CYP2C9	C0850715	Abnormality of blood and blood-forming tissues	0.2	0	0	HPO
1559	CYP2C9	C0878544	Cardiomyopathies	0.2	1	0	CTD_human
1559	CYP2C9	C1269683	Major Depressive Disorder	0.203231208875927	4	0	PSYGENET
1559	CYP2C9	C2609414	Acute kidney injury	0.2	1	0	CTD_human
1559	CYP2C9	C4020864	Abnormality of the haematopoietic system	0.2	0	0	HPO
1559	CYP2C9	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1559	CYP2C9	C4277682	Chemical and Drug Induced Liver Injury	0.28	2	0	CTD_human
156	GRK2	C0000768	Congenital Abnormality	0.2	1	0	CTD_human
156	GRK2	C0003873	Rheumatoid Arthritis	0.200274726784213	1	0	CTD_human
156	GRK2	C0007222	Cardiovascular Diseases	0.2	1	0	CTD_human
156	GRK2	C0011570	Mental Depression	0.200274726784213	1	0	PSYGENET
156	GRK2	C0011581	Depressive disorder	0.200274726784213	1	0	PSYGENET
156	GRK2	C0018800	Cardiomegaly	0.2	1	0	CTD_human
156	GRK2	C0018801	Heart failure	0.208176290991763	1	0	CTD_human
156	GRK2	C0020538	Hypertensive disease	0.200824180352639	1	0	CTD_human
156	GRK2	C0162820	Dermatitis, Allergic Contact	0.2	1	0	CTD_human
156	GRK2	C0752351	Embryo Loss	0.2	1	0	CTD_human
156	GRK2	C0878544	Cardiomyopathies	0.2	1	0	CTD_human
1562	CYP2C18	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1562	CYP2C18	C0206726	gliosarcoma	0.2	1	0	CTD_human
1565	CYP2D6	C0002395	Alzheimer's Disease	0.223009858607647	1	0	CTD_human
1565	CYP2D6	C0004782	Basal Ganglia Diseases	0.214442171139728	1	0	CTD_human
1565	CYP2D6	C0009421	Comatose	0.2	1	0	CTD_human
1565	CYP2D6	C0011570	Mental Depression	0.213199562287922	5	0	PSYGENET
1565	CYP2D6	C0011581	Depressive disorder	0.20357144819477	5	0	PSYGENET
1565	CYP2D6	C0013421	Dystonia	0.2	1	0	CTD_human
1565	CYP2D6	C0014549	Tonic-Clonic Epilepsy	0.202407028523288	1	0	CTD_human
1565	CYP2D6	C0026837	Muscle Rigidity	0.2	1	0	CTD_human
1565	CYP2D6	C0027707	Nephritis, Interstitial	0.2	1	0	CTD_human
1565	CYP2D6	C0028797	Occupational Diseases	0.2	1	0	CTD_human
1565	CYP2D6	C0030567	Parkinson Disease	0.254721336641181	2	0	CTD_human
1565	CYP2D6	C0033054	Prenatal Exposure Delayed Effects	0.2	1	0	CTD_human
1565	CYP2D6	C0033953	Psychosexual Disorders	0.2	2	0	CTD_human
1565	CYP2D6	C0036341	Schizophrenia	0.252387911677884	5	0	PSYGENET
1565	CYP2D6	C0040822	Tremor	0.2	1	0	CTD_human
1565	CYP2D6	C0041696	Unipolar Depression	0.202472541057918	5	2	PSYGENET
1565	CYP2D6	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
1565	CYP2D6	C0043094	Weight Gain	0.2	1	0	CTD_human
1565	CYP2D6	C0236733	Amphetamine-Related Disorders	0.204814057046576	1	0	CTD_human
1565	CYP2D6	C0236969	Substance-Related Disorders	0.202407028523288	1	0	CTD_human
1565	CYP2D6	C0428977	Bradycardia	0.202407028523288	1	0	CTD_human
1565	CYP2D6	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1565	CYP2D6	C0677050	Manganese Poisoning	0.202407028523288	1	0	CTD_human
1565	CYP2D6	C0809983	Schizophrenia and related disorders	0.200274726784213	1	0	PSYGENET
1565	CYP2D6	C1269683	Major Depressive Disorder	0.207286598104494	5	0	PSYGENET
1565	CYP2D6	C1458155	Mammary Neoplasms	0.232269022627321	1	0	CTD_human
1565	CYP2D6	C1837154	Drug Metabolism, Poor, CYP2D6-Related	0.2	0	0	CTD_human
1565	CYP2D6	C2609414	Acute kidney injury	0.2	1	0	CTD_human
157	GRK3	C0005586	Bipolar Disorder	0.404381273170092	5	0	CTD_human;PSYGENET
157	GRK3	C0009171	Cocaine Abuse	0.200274726784213	1	0	PSYGENET
157	GRK3	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
157	GRK3	C0600427	Cocaine Dependence	0.200274726784213	1	0	PSYGENET
1571	CYP2E1	C0001418	Adenocarcinoma	0.208045265922503	1	0	CTD_human
1571	CYP2E1	C0001973	Alcoholic Intoxication, Chronic	0.451279234784047	6	0	CTD_human;PSYGENET
1571	CYP2E1	C0007131	Non-Small Cell Lung Carcinoma	0.201923087489492	1	0	CTD_human
1571	CYP2E1	C0011609	Drug Eruptions	0.2	1	0	CTD_human
1571	CYP2E1	C0015695	Fatty Liver	0.205964121340741	1	0	CTD_human
1571	CYP2E1	C0015696	Fatty Liver, Alcoholic	0.2	1	0	CTD_human
1571	CYP2E1	C0018800	Cardiomegaly	0.2	1	0	CTD_human
1571	CYP2E1	C0023891	Liver Cirrhosis, Alcoholic	0.223912228140609	1	0	CTD_human
1571	CYP2E1	C0023903	Liver neoplasms	0.210517806980421	1	0	CTD_human
1571	CYP2E1	C0023904	Liver Neoplasms, Experimental	0.2	1	0	CTD_human
1571	CYP2E1	C0024121	Lung Neoplasms	0.208147580237129	2	0	CTD_human
1571	CYP2E1	C0024305	Lymphoma, Non-Hodgkin	0.214991624708154	1	0	CTD_human
1571	CYP2E1	C0027540	Necrosis	0.2	2	0	CTD_human
1571	CYP2E1	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1571	CYP2E1	C0028754	Obesity	0.205154296365419	1	0	CTD_human
1571	CYP2E1	C0030567	Parkinson Disease	0.211551201582644	1	0	CTD_human
1571	CYP2E1	C0033578	Prostatic Neoplasms	0.2	1	0	CTD_human
1571	CYP2E1	C0036341	Schizophrenia	0.202956482091714	1	0	PSYGENET
1571	CYP2E1	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
1571	CYP2E1	C0085762	Alcohol abuse	0.203780662444353	5	0	PSYGENET
1571	CYP2E1	C0236664	Alcohol-Related Disorders	0.200549453568426	2	0	PSYGENET
1571	CYP2E1	C0400966	Non-alcoholic Fatty Liver Disease	0.201098907136852	1	0	CTD_human
1571	CYP2E1	C1449861	Micronuclei, Chromosome-Defective	0.2	1	0	CTD_human
1571	CYP2E1	C2239176	Liver carcinoma	0.226343381798199	1	0	CTD_human
1571	CYP2E1	C4277682	Chemical and Drug Induced Liver Injury	0.2	3	0	CTD_human
157378	TMEM65	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
157506	RDH10	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
157570	ESCO2	C0392475	Roberts-SC phocomelia syndrome	0.604670355331623	4	28	CTD_human;ORPHANET;UNIPROT
1576	CYP3A4	C0019196	Hepatitis C	0.200549453568426	1	0	CTD_human
1576	CYP3A4	C0029463	Osteosarcoma	0.202732912464814	1	0	CTD_human
1576	CYP3A4	C0033578	Prostatic Neoplasms	0.203007639249027	1	0	CTD_human
1576	CYP3A4	C0036341	Schizophrenia	0.205638237399215	1	0	PSYGENET
1576	CYP3A4	C0040479	Torsades de Pointes	0.2	1	0	CTD_human
1576	CYP3A4	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1576	CYP3A4	C0221765	Chronic schizophrenia	0.200274726784213	1	0	PSYGENET
1576	CYP3A4	C1458155	Mammary Neoplasms	0.213785817636344	1	0	CTD_human
157657	C8orf37	C0035334	Retinitis Pigmentosa	0.200824180352639	0	0	ORPHANET
157657	C8orf37	C3281045	CONE-ROD DYSTROPHY 16	0.2	2	2	UNIPROT
157680	VPS13B	C0265223	Cohen syndrome	0.606593442821114	6	184	CTD_human;ORPHANET;UNIPROT
1577	CYP3A5	C0022658	Kidney Diseases	0.207495812354077	2	0	CTD_human
1577	CYP3A5	C0033578	Prostatic Neoplasms	0.210605765917729	1	0	CTD_human
1577	CYP3A5	C0036341	Schizophrenia	0.208096423079816	3	0	PSYGENET
1577	CYP3A5	C0040053	Thrombosis	0.202407028523288	1	0	CTD_human
1577	CYP3A5	C0085580	Essential Hypertension	0.2	0	0	CTD_human
1577	CYP3A5	C0235032	Neurotoxicity Syndromes	0.202407028523288	1	0	CTD_human
1577	CYP3A5	C0809983	Schizophrenia and related disorders	0.200274726784213	1	0	PSYGENET
157922	CAMSAP1	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
158	ADSL	C0001807	Aggressive behavior	0.2	0	0	HPO
158	ADSL	C0004352	Autistic Disorder	0.401098907136852	1	0	CTD_human;HPO
158	ADSL	C0014544	Epilepsy	0.2	0	0	HPO
158	ADSL	C0023012	Language Delay	0.2	0	0	HPO
158	ADSL	C0024433	Macrostomia	0.2	0	0	HPO
158	ADSL	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
158	ADSL	C0026827	Muscle hypotonia	0.2	0	0	HPO
158	ADSL	C0027066	Myoclonus	0.2	0	0	HPO
158	ADSL	C0028738	Nystagmus	0.2	0	0	HPO
158	ADSL	C0036572	Seizures	0.2	0	0	HPO
158	ADSL	C0036601	Self Mutilation	0.2	0	0	HPO
158	ADSL	C0038379	Strabismus	0.2	0	0	HPO
158	ADSL	C0151686	Growth retardation	0.2	0	0	HPO
158	ADSL	C0151818	Opisthotonus	0.2	0	0	HPO
158	ADSL	C0154671	Degenerative brain disorder	0.2	0	0	HPO
158	ADSL	C0221356	Brachycephaly	0.2	0	0	HPO
158	ADSL	C0233715	Speech impairment	0.2	0	0	HPO
158	ADSL	C0234958	muscle degeneration	0.2	0	0	HPO
158	ADSL	C0235946	Cerebral atrophy	0.2	0	0	HPO
158	ADSL	C0239234	Low set ears	0.2	0	0	HPO
158	ADSL	C0241210	Speech Delay	0.2	0	0	HPO
158	ADSL	C0262404	Cerebellar degeneration	0.2	0	0	HPO
158	ADSL	C0266617	Congenital anomaly of face	0.2	0	0	HPO
158	ADSL	C0268126	Adenylosuccinate lyase deficiency (disorder)	0.601923087489492	8	20	CTD_human;ORPHANET;UNIPROT
158	ADSL	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
158	ADSL	C0423903	Low intelligence	0.2	0	0	HPO
158	ADSL	C0424295	Hyperactive behavior	0.2	0	0	HPO
158	ADSL	C0424304	Inappropriate laughter	0.2	0	0	HPO
158	ADSL	C0424323	Physical aggression	0.2	0	0	HPO
158	ADSL	C0424503	Dysmorphic facies	0.2	0	0	HPO
158	ADSL	C0424688	Small head	0.2	0	0	HPO
158	ADSL	C0426414	Small nose	0.2	0	0	HPO
158	ADSL	C0454644	Delayed speech and language development	0.2	0	0	HPO
158	ADSL	C0456070	Growth delay	0.2	0	0	HPO
158	ADSL	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
158	ADSL	C0544820	Hypomyelination	0.2	0	0	HPO
158	ADSL	C0557874	Global developmental delay	0.201373633921065	0	0	HPO
158	ADSL	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
158	ADSL	C0746940	nonverbal	0.2	0	0	HPO
158	ADSL	C0751837	Gait Ataxia	0.2	0	0	HPO
158	ADSL	C0878787	Growth failure	0.2	0	0	HPO
158	ADSL	C0917816	Mental deficiency	0.2	0	0	HPO
158	ADSL	C1142533	Smooth philtrum	0.2	0	0	HPO
158	ADSL	C1385263	facial deformity	0.2	0	0	HPO
158	ADSL	C1445953	Poor eye contact	0.2	0	0	HPO
158	ADSL	C1457883	Aggressive reaction	0.2	0	0	HPO
158	ADSL	C1837385	Poor growth	0.2	0	0	HPO
158	ADSL	C1837397	Global developmental delay, severe	0.2	0	0	HPO
158	ADSL	C1837402	Flat occiput	0.2	0	0	HPO
158	ADSL	C1840077	Anteverted nostril	0.2	0	0	HPO
158	ADSL	C1843367	Poor school performance	0.2	0	0	HPO
158	ADSL	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
158	ADSL	C1848924	Infantile onset	0.2	0	0	HPO
158	ADSL	C1854114	Short nose	0.2	0	0	HPO
158	ADSL	C1854882	Absent speech	0.2	0	0	HPO
158	ADSL	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
158	ADSL	C1857949	Prominent metopic ridge	0.2	0	0	HPO
158	ADSL	C1858120	Generalized hypotonia	0.2	0	0	HPO
158	ADSL	C1864897	Cognitive delay	0.2	0	0	HPO
158	ADSL	C1865014	Long philtrum	0.2	0	0	HPO
158	ADSL	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
158	ADSL	C2673700	Brisk reflexes	0.2	0	0	HPO
158	ADSL	C2677328	Brain hypomyelination	0.2	0	0	HPO
158	ADSL	C3552463	Very poor growth	0.2	0	0	HPO
158	ADSL	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
158	ADSL	C4020860	Supratentorial atrophy	0.2	0	0	HPO
158	ADSL	C4020873	Infratentorial atrophy	0.2	0	0	HPO
158	ADSL	C4020875	Mental and motor retardation	0.2	0	0	HPO
158	ADSL	C4020876	Dull intelligence	0.2	0	0	HPO
158	ADSL	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
158	ADSL	C4020908	Hypointensity of cerebral white matter on MRI	0.2	0	0	HPO
158	ADSL	C4025616	CNS hypomyelination	0.2	0	0	HPO
158	ADSL	C4072823	Broad cranium shape	0.2	0	0	HPO
158	ADSL	C4072824	Wide skull shape	0.2	0	0	HPO
158	ADSL	C4072832	Distortion of face	0.2	0	0	HPO
158	ADSL	C4072833	Funny looking face	0.2	0	0	HPO
158	ADSL	C4280482	Flat back of the head	0.2	0	0	HPO
1580	CYP4B1	C0005695	Bladder Neoplasm	0.20328236603324	1	0	CTD_human
158038	LINGO2	C0023903	Liver neoplasms	0.2	1	0	CTD_human
158038	LINGO2	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
1583	CYP11A1	C0001122	Acidosis	0.2	0	0	HPO
1583	CYP11A1	C0001623	Adrenal gland hypofunction	0.401923087489492	1	0	CTD_human;HPO
1583	CYP11A1	C0010417	Cryptorchidism	0.200274726784213	0	0	HPO
1583	CYP11A1	C0011175	Dehydration	0.2	0	0	HPO
1583	CYP11A1	C0014170	Endometrial Neoplasms	0.20754696951139	1	0	CTD_human
1583	CYP11A1	C0018418	Gynecomastia	0.2	0	0	HPO
1583	CYP11A1	C0020428	Hyperaldosteronism	0.2	0	0	HPO
1583	CYP11A1	C0020461	Hyperkalemia	0.2	0	0	HPO
1583	CYP11A1	C0020595	Hypoaldosteronism	0.2	0	0	HPO
1583	CYP11A1	C0020625	Hyponatremia	0.2	0	0	HPO
1583	CYP11A1	C0020649	Hypotension	0.2	0	0	HPO
1583	CYP11A1	C0029456	Osteoporosis	0.2	0	0	HPO
1583	CYP11A1	C0034012	Delayed Puberty	0.2	0	0	HPO
1583	CYP11A1	C0036572	Seizures	0.2	1	0	CTD_human
1583	CYP11A1	C0042963	Vomiting	0.2	0	0	HPO
1583	CYP11A1	C0151526	Premature Birth	0.2	0	0	HPO
1583	CYP11A1	C0158986	Neonatal hypoglycemia	0.2	0	0	HPO
1583	CYP11A1	C0162834	Hyperpigmentation	0.2	0	0	HPO
1583	CYP11A1	C0175754	Agenesis of corpus callosum	0.200274726784213	0	0	HPO
1583	CYP11A1	C0231246	Failure to gain weight	0.2	0	0	HPO
1583	CYP11A1	C0232466	Feeding difficulties	0.2	0	0	HPO
1583	CYP11A1	C0233315	Premature birth of newborn	0.2	0	0	HPO
1583	CYP11A1	C0238395	Male Pseudohermaphroditism	0.2	0	0	HPO
1583	CYP11A1	C0240783	Elevated plasma renin	0.2	0	0	HPO
1583	CYP11A1	C0241355	Small testicle	0.2	0	0	HPO
1583	CYP11A1	C0342474	Lipoid congenital adrenal hyperplasia	0.2	1	0	CTD_human
1583	CYP11A1	C0342491	Small adrenal gland	0.2	0	0	HPO
1583	CYP11A1	C0425913	Uterus absent (finding)	0.2	0	0	HPO
1583	CYP11A1	C0520927	Decreased fertility	0.2	0	0	HPO
1583	CYP11A1	C0541764	Delayed bone age	0.2	0	0	HPO
1583	CYP11A1	C0546884	Hypovolemia	0.2	0	0	HPO
1583	CYP11A1	C1836623	Low to undetectable plasma cortisol	0.2	0	0	HPO
1583	CYP11A1	C1846223	Adrenal hypoplasia	0.2	0	0	HPO
1583	CYP11A1	C1846226	Mineralocorticoid insufficiency	0.2	0	0	HPO
1583	CYP11A1	C1846347	Renal salt wasting	0.2	0	0	HPO
1583	CYP11A1	C1848178	Female external genitalia in males	0.2	0	0	HPO
1583	CYP11A1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1583	CYP11A1	C2751824	46, XY Disorders of Sex Development	0.200274726784213	1	0	CTD_human
1583	CYP11A1	C2939074	Bronze skin	0.2	0	0	HPO
1583	CYP11A1	C3151055	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	0.400274726784213	4	7	ORPHANET;UNIPROT
1583	CYP11A1	C3496069	cocaine use	0.2	1	0	PSYGENET
1583	CYP11A1	C3671887	Sodium concentration in urine above normal	0.2	0	0	HPO
1583	CYP11A1	C4021124	Adrenocorticotropic hormone excess	0.2	0	0	HPO
1583	CYP11A1	C4021550	Elevated follicle stimulating hormone	0.2	0	0	HPO
1583	CYP11A1	C4021551	Absence of secondary sex characteristics	0.2	0	0	HPO
1583	CYP11A1	C4021740	Increased circulating ACTH level	0.2	0	0	HPO
1583	CYP11A1	C4021823	Ambiguous genitalia, male	0.2	0	0	HPO
1583	CYP11A1	C4021972	Urogenital sinus anomaly	0.2	0	0	HPO
1583	CYP11A1	C4022829	Abnormal urine potassium concentration	0.2	0	0	HPO
1583	CYP11A1	C4022995	Sex reversal	0.2	0	0	HPO
1583	CYP11A1	C4023101	Elevated luteinizing hormone	0.2	0	0	HPO
1583	CYP11A1	C4023703	Abnormality of the Leydig cells	0.2	0	0	HPO
1583	CYP11A1	C4024734	Low maternal serum estriol	0.2	0	0	HPO
1583	CYP11A1	C4024842	Generalized bronze hyperpigmentation	0.2	0	0	HPO
1583	CYP11A1	C4025656	Abnormality of cholesterol metabolism	0.2	0	0	HPO
1583	CYP11A1	C4072894	Decreased circulating androgen level	0.2	0	0	HPO
1583	CYP11A1	C4072908	Induced vaginal delivery	0.2	0	0	HPO
158326	FREM1	C0015393	Eye Abnormalities	0.2	1	0	CTD_human
158326	FREM1	C0221363	Bifid nose	0.200549453568426	1	0	CTD_human
158326	FREM1	C0235833	Congenital diaphragmatic hernia	0.360274726784213	1	0	CTD_human
158326	FREM1	C0266294	Unilateral agenesis of kidney	0.2	0	0	ORPHANET
158326	FREM1	C1609433	Congenital absence of kidneys syndrome	0.200274726784213	1	0	CTD_human
158326	FREM1	C1855425	Marles Greenberg Persaud syndrome	0.681373633921066	2	2	CTD_human;ORPHANET;UNIPROT
158326	FREM1	C2750433	Bifid Nose With Or Without Anorectal And Renal Anomalies	0.600824180352639	2	2	CTD_human;ORPHANET;UNIPROT
158326	FREM1	C3280974	TRIGONOCEPHALY 2	0.2	1	2	UNIPROT
1584	CYP11B1	C0001627	Congenital adrenal hyperplasia	0.222129935477362	0	0	HPO
1584	CYP11B1	C0019572	Hirsutism	0.2	0	0	HPO
1584	CYP11B1	C0020428	Hyperaldosteronism	0.408096423079816	1	0	CTD_human;HPO
1584	CYP11B1	C0020538	Hypertensive disease	0.218563072902925	0	0	HPO
1584	CYP11B1	C0020595	Hypoaldosteronism	0.2	0	0	HPO
1584	CYP11B1	C0020621	Hypokalemia	0.2	0	0	HPO
1584	CYP11B1	C0029456	Osteoporosis	0.2	0	0	HPO
1584	CYP11B1	C0151639	Decreased fertility in females	0.2	0	0	HPO
1584	CYP11B1	C0151640	Decreased male fertility	0.2	0	0	HPO
1584	CYP11B1	C0156394	Hypertrophy of clitoris	0.2	0	0	HPO
1584	CYP11B1	C0162834	Hyperpigmentation	0.2	0	0	HPO
1584	CYP11B1	C0238669	Aortic root dilatation	0.2	0	0	HPO
1584	CYP11B1	C0241240	Tall stature	0.2	0	0	HPO
1584	CYP11B1	C0241355	Small testicle	0.2	0	0	HPO
1584	CYP11B1	C0266275	Ectopic adrenal gland	0.2	0	0	HPO
1584	CYP11B1	C0266399	Infantile uterus	0.2	0	0	HPO
1584	CYP11B1	C0268292	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	0.609340710663245	8	32	CTD_human;ORPHANET;UNIPROT
1584	CYP11B1	C0269011	Increased size of penis	0.2	0	0	HPO
1584	CYP11B1	C0302280	Adrenogenital Syndrome	0.2	0	0	HPO
1584	CYP11B1	C0342546	Premature adrenarche	0.2	0	0	HPO
1584	CYP11B1	C0345309	Hypoplasia of vagina	0.2	0	0	HPO
1584	CYP11B1	C0349588	Short stature	0.2	0	0	HPO
1584	CYP11B1	C0497247	Increase in blood pressure	0.2	0	0	HPO
1584	CYP11B1	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1584	CYP11B1	C0541764	Delayed bone age	0.2	0	0	HPO
1584	CYP11B1	C0545053	Advanced bone age	0.2	0	0	HPO
1584	CYP11B1	C0546817	Fluid overload	0.2	0	0	HPO
1584	CYP11B1	C0857898	Abnormal circulating aldosterone	0.2	0	0	HPO
1584	CYP11B1	C1112442	Female sexual dysfunction	0.2	0	0	HPO
1584	CYP11B1	C1260386	Glucocorticoid-remediable aldosteronism	0.403846174978983	0	0	CTD_human;ORPHANET
1584	CYP11B1	C1442988	Rudimentary vagina	0.2	0	0	HPO
1584	CYP11B1	C1621895	Adrenal hyperplasia	0.200549453568426	0	0	HPO
1584	CYP11B1	C1836623	Low to undetectable plasma cortisol	0.2	0	0	HPO
1584	CYP11B1	C1837532	Fused labia minora	0.2	0	0	HPO
1584	CYP11B1	C1845206	Decreased plasma renin activity	0.2	0	0	HPO
1584	CYP11B1	C1846226	Mineralocorticoid insufficiency	0.2	0	0	HPO
1584	CYP11B1	C1846347	Renal salt wasting	0.2	0	0	HPO
1584	CYP11B1	C1855106	Neonatal onset	0.2	0	0	HPO
1584	CYP11B1	C1859979	Precocious puberty in males	0.2	0	0	HPO
1584	CYP11B1	C1859980	Ambiguous genitalia due to virilization	0.2	0	0	HPO
1584	CYP11B1	C1860825	Accelerated bone age after puberty	0.2	0	0	HPO
1584	CYP11B1	C3549779	menstrual abnormality	0.2	0	0	HPO
1584	CYP11B1	C4020713	Penile melanosis	0.2	0	0	HPO
1584	CYP11B1	C4020743	Glucocorticoid-remediable familial primary aldosteronism	0.2	0	0	HPO
1584	CYP11B1	C4020744	Familial primary hyperaldosteronism type 1	0.2	0	0	HPO
1584	CYP11B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1584	CYP11B1	C4021038	Abnormal circulating renin	0.2	0	0	HPO
1584	CYP11B1	C4021124	Adrenocorticotropic hormone excess	0.2	0	0	HPO
1584	CYP11B1	C4021740	Increased circulating ACTH level	0.2	0	0	HPO
1584	CYP11B1	C4021821	Abnormality of the urinary system	0.2	0	0	HPO
1584	CYP11B1	C4021972	Urogenital sinus anomaly	0.2	0	0	HPO
1584	CYP11B1	C4022554	Hyperpigmented genitalia	0.2	0	0	HPO
1584	CYP11B1	C4023209	Dexamethasone-suppresible primary hyperaldosteronism	0.2	0	0	HPO
1584	CYP11B1	C4023396	Abnormality of hair growth rate	0.2	0	0	HPO
1584	CYP11B1	C4024641	Enlarged polycystic ovaries	0.2	0	0	HPO
1584	CYP11B1	C4024878	Generalized hyperpigmentation	0.2	0	0	HPO
1584	CYP11B1	C4025797	Abnormality of prenatal development or birth	0.2	0	0	HPO
1584	CYP11B1	C4025888	Abnormality of the menstrual cycle	0.2	0	0	HPO
1584	CYP11B1	C4025891	Ambiguous genitalia, female	0.2	0	0	HPO
1584	CYP11B1	C4072893	Increased circulating androgen level	0.2	0	0	HPO
158471	PRUNE2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
158584	FAAH2	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1586	CYP17A1	C0001627	Congenital adrenal hyperplasia	0.402747267842131	1	1	CTD_human;HPO
1586	CYP17A1	C0002453	Amenorrhea	0.200274726784213	1	0	CTD_human
1586	CYP17A1	C0010417	Cryptorchidism	0.200274726784213	0	0	HPO
1586	CYP17A1	C0013390	Dysmenorrhea	0.2	0	0	HPO
1586	CYP17A1	C0018418	Gynecomastia	0.2	0	0	HPO
1586	CYP17A1	C0020428	Hyperaldosteronism	0.200824180352639	0	0	HPO
1586	CYP17A1	C0020461	Hyperkalemia	0.2	1	0	CTD_human
1586	CYP17A1	C0020538	Hypertensive disease	0.213814528390978	0	0	HPO
1586	CYP17A1	C0020540	Malignant Hypertension	0.2	1	0	CTD_human
1586	CYP17A1	C0020619	Hypogonadism	0.2	1	0	CTD_human
1586	CYP17A1	C0020621	Hypokalemia	0.2	0	0	HPO
1586	CYP17A1	C0020635	Hypopituitarism	0.2	1	0	CTD_human
1586	CYP17A1	C0021361	Female infertility	0.202407028523288	1	0	CTD_human
1586	CYP17A1	C0021364	Male infertility	0.200274726784213	1	0	CTD_human
1586	CYP17A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1586	CYP17A1	C0027796	Neuralgia	0.2	1	0	CTD_human
1586	CYP17A1	C0028949	Oligomenorrhea	0.2	1	0	CTD_human
1586	CYP17A1	C0029456	Osteoporosis	0.20678830169338	0	0	HPO
1586	CYP17A1	C0029927	Ovarian Cysts	0.2	1	0	CTD_human
1586	CYP17A1	C0033578	Prostatic Neoplasms	0.213613405166756	5	0	CTD_human
1586	CYP17A1	C0033953	Psychosexual Disorders	0.2	1	0	CTD_human
1586	CYP17A1	C0034012	Delayed Puberty	0.2	0	0	HPO
1586	CYP17A1	C0085570	Hypokalemic alkalosis	0.2	0	0	HPO
1586	CYP17A1	C0151639	Decreased fertility in females	0.2	0	0	HPO
1586	CYP17A1	C0151640	Decreased male fertility	0.2	0	0	HPO
1586	CYP17A1	C0232939	Primary physiologic amenorrhea	0.200824180352639	0	0	HPO
1586	CYP17A1	C0238395	Male Pseudohermaphroditism	0.200274726784213	0	0	HPO
1586	CYP17A1	C0238669	Aortic root dilatation	0.2	0	0	HPO
1586	CYP17A1	C0241011	Low serum estradiol levels	0.2	0	0	HPO
1586	CYP17A1	C0241355	Small testicle	0.2	0	0	HPO
1586	CYP17A1	C0266362	Ambiguous Genitalia	0.200824180352639	0	0	HPO
1586	CYP17A1	C0266399	Infantile uterus	0.2	0	0	HPO
1586	CYP17A1	C0266435	Congenital hypoplasia of penis	0.200274726784213	0	0	HPO
1586	CYP17A1	C0268285	Adrenal hyperplasia, congenital, type 5	0.605219808900049	14	18	CTD_human;ORPHANET;UNIPROT
1586	CYP17A1	C0302280	Adrenogenital Syndrome	0.2	0	0	HPO
1586	CYP17A1	C0345309	Hypoplasia of vagina	0.2	0	0	HPO
1586	CYP17A1	C0349588	Short stature	0.2	0	0	HPO
1586	CYP17A1	C0400966	Non-alcoholic Fatty Liver Disease	0.2	1	0	CTD_human
1586	CYP17A1	C0497247	Increase in blood pressure	0.2	0	0	HPO
1586	CYP17A1	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1586	CYP17A1	C0541764	Delayed bone age	0.2	0	0	HPO
1586	CYP17A1	C0546817	Fluid overload	0.2	0	0	HPO
1586	CYP17A1	C0857898	Abnormal circulating aldosterone	0.2	0	0	HPO
1586	CYP17A1	C0948896	Primary hypogonadism	0.200274726784213	0	0	HPO
1586	CYP17A1	C1295654	Decreased testosterone level	0.2	0	0	HPO
1586	CYP17A1	C1442988	Rudimentary vagina	0.2	0	0	HPO
1586	CYP17A1	C1458155	Mammary Neoplasms	0.213939289108282	1	0	CTD_human
1586	CYP17A1	C1621895	Adrenal hyperplasia	0.2	0	0	HPO
1586	CYP17A1	C1691215	Penile hypospadias	0.200824180352639	0	0	HPO
1586	CYP17A1	C1836623	Low to undetectable plasma cortisol	0.2	0	0	HPO
1586	CYP17A1	C1845206	Decreased plasma renin activity	0.2	0	0	HPO
1586	CYP17A1	C1858573	Sparse pubic hair	0.2	0	0	HPO
1586	CYP17A1	C1858574	Sparse axillary hair	0.2	0	0	HPO
1586	CYP17A1	C1859014	Primary gonadal insufficiency	0.2	0	0	HPO
1586	CYP17A1	C1862863	Sparse body hair	0.2	0	0	HPO
1586	CYP17A1	C2239176	Liver carcinoma	0.201098907136852	1	0	CTD_human
1586	CYP17A1	C4020731	Abnormality of creatine metabolism	0.2	0	0	HPO
1586	CYP17A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1586	CYP17A1	C4021124	Adrenocorticotropic hormone excess	0.2	0	0	HPO
1586	CYP17A1	C4021550	Elevated follicle stimulating hormone	0.2	0	0	HPO
1586	CYP17A1	C4021551	Absence of secondary sex characteristics	0.2	0	0	HPO
1586	CYP17A1	C4021740	Increased circulating ACTH level	0.2	0	0	HPO
1586	CYP17A1	C4023101	Elevated luteinizing hormone	0.2	0	0	HPO
1586	CYP17A1	C4024641	Enlarged polycystic ovaries	0.2	0	0	HPO
1586	CYP17A1	C4024878	Generalized hyperpigmentation	0.2	0	0	HPO
1586	CYP17A1	C4073137	Low serum testosterone levels	0.2	0	0	HPO
1588	CYP19A1	C0000889	Acanthosis Nigricans	0.2	0	0	HPO
1588	CYP19A1	C0001418	Adenocarcinoma	0.205363510615002	1	0	CTD_human
1588	CYP19A1	C0002453	Amenorrhea	0.2	1	0	CTD_human
1588	CYP19A1	C0004352	Autistic Disorder	0.202681755307501	1	0	CTD_human
1588	CYP19A1	C0005974	Bone Resorption	0.2	1	0	CTD_human
1588	CYP19A1	C0010417	Cryptorchidism	0.200549453568426	0	0	HPO
1588	CYP19A1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200549453568426	0	0	HPO
1588	CYP19A1	C0014175	Endometriosis	0.322140245861343	2	0	CTD_human
1588	CYP19A1	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1588	CYP19A1	C0015695	Fatty Liver	0.2	1	0	CTD_human
1588	CYP19A1	C0016059	Fibrosis	0.2	1	0	CTD_human
1588	CYP19A1	C0018418	Gynecomastia	0.208422307021342	0	0	HPO
1588	CYP19A1	C0020473	Hyperlipidemia	0.2	0	0	HPO
1588	CYP19A1	C0020619	Hypogonadism	0.200274726784213	1	0	CTD_human
1588	CYP19A1	C0020635	Hypopituitarism	0.2	1	0	CTD_human
1588	CYP19A1	C0021361	Female infertility	0.404814057046576	1	0	CTD_human;HPO
1588	CYP19A1	C0021364	Male infertility	0.205414667772315	0	0	HPO
1588	CYP19A1	C0021655	Insulin Resistance	0.202407028523288	0	0	HPO
1588	CYP19A1	C0028754	Obesity	0.216639985413433	0	0	HPO
1588	CYP19A1	C0029453	Osteopenia	0.201648360705279	0	0	HPO
1588	CYP19A1	C0029456	Osteoporosis	0.41007066772662	1	0	CTD_human;HPO
1588	CYP19A1	C0029927	Ovarian Cysts	0.2	0	0	HPO
1588	CYP19A1	C0029928	Ovarian Diseases	0.2	1	0	CTD_human
1588	CYP19A1	C0032460	Polycystic Ovary Syndrome	0.309117681663341	4	0	CTD_human
1588	CYP19A1	C0033578	Prostatic Neoplasms	0.213338678382543	2	0	CTD_human
1588	CYP19A1	C0085207	Gestational Diabetes	0.2	1	0	CTD_human
1588	CYP19A1	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1588	CYP19A1	C0151686	Growth retardation	0.2	0	0	HPO
1588	CYP19A1	C0151825	Bone pain	0.2	0	0	HPO
1588	CYP19A1	C0232939	Primary physiologic amenorrhea	0.200274726784213	0	0	HPO
1588	CYP19A1	C0236663	Alcohol withdrawal syndrome	0.200274726784213	1	0	PSYGENET
1588	CYP19A1	C0238394	Female Pseudohermaphroditism	0.202681755307501	0	0	HPO
1588	CYP19A1	C0241240	Tall stature	0.2	0	0	HPO
1588	CYP19A1	C0242341	Sexual Infantilism	0.2	1	0	CTD_human
1588	CYP19A1	C0349588	Short stature	0.2	0	0	HPO
1588	CYP19A1	C0456070	Growth delay	0.2	0	0	HPO
1588	CYP19A1	C0541764	Delayed bone age	0.2	0	0	HPO
1588	CYP19A1	C0545053	Advanced bone age	0.2	0	0	HPO
1588	CYP19A1	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
1588	CYP19A1	C0747078	Generalized osteopenia	0.2	0	0	HPO
1588	CYP19A1	C0878787	Growth failure	0.2	0	0	HPO
1588	CYP19A1	C0948896	Primary hypogonadism	0.2	0	0	HPO
1588	CYP19A1	C1458155	Mammary Neoplasms	0.279492386483817	3	0	CTD_human
1588	CYP19A1	C1837385	Poor growth	0.2	0	0	HPO
1588	CYP19A1	C1839782	Macroorchidism, postpubertal	0.2	0	0	HPO
1588	CYP19A1	C1849211	Generalized hirsutism	0.2	0	0	HPO
1588	CYP19A1	C1859980	Ambiguous genitalia due to virilization	0.2	0	0	HPO
1588	CYP19A1	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1588	CYP19A1	C1960539	Aromatase deficiency	0.602472541057918	6	10	CTD_human;ORPHANET;UNIPROT
1588	CYP19A1	C1970109	AROMATASE EXCESS SYNDROME	0.284604842796993	0	0	ORPHANET
1588	CYP19A1	C2711227	Steatohepatitis	0.2	0	0	HPO
1588	CYP19A1	C3552463	Very poor growth	0.2	0	0	HPO
1588	CYP19A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1588	CYP19A1	C4024641	Enlarged polycystic ovaries	0.2	0	0	HPO
1588	CYP19A1	C4024735	Maternal virilization in pregnancy	0.2	0	0	HPO
1588	CYP19A1	C4025569	Eunuchoid habitus	0.2	0	0	HPO
1588	CYP19A1	C4025891	Ambiguous genitalia, female	0.2	0	0	HPO
1588	CYP19A1	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
158866	ZDHHC15	C1845142	MENTAL RETARDATION, X-LINKED 91 (disorder)	0.2	0	0	CTD_human
159	ADSS	C0036341	Schizophrenia	0.207821696295603	1	0	PSYGENET
1591	CYP24A1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1591	CYP24A1	C0003507	Aortic Valve Stenosis	0.2	0	0	HPO
1591	CYP24A1	C0011175	Dehydration	0.2	0	0	HPO
1591	CYP24A1	C0015393	Eye Abnormalities	0.2	0	0	HPO
1591	CYP24A1	C0015397	Disorder of eye	0.2	0	0	HPO
1591	CYP24A1	C0020437	Hypercalcemia	0.207626837423337	1	0	CTD_human
1591	CYP24A1	C0020438	Hypercalciuria	0.402681755307501	1	0	CTD_human;HPO
1591	CYP24A1	C0023380	Lethargy	0.2	0	0	HPO
1591	CYP24A1	C0024121	Lung Neoplasms	0.203557092817453	1	0	CTD_human
1591	CYP24A1	C0025362	Mental Retardation	0.2	0	0	HPO
1591	CYP24A1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1591	CYP24A1	C0027709	Nephrocalcinosis	0.201923087489492	0	0	HPO
1591	CYP24A1	C0029456	Osteoporosis	0.2	1	0	CTD_human
1591	CYP24A1	C0032617	Polyuria	0.2	0	0	HPO
1591	CYP24A1	C0042963	Vomiting	0.2	0	0	HPO
1591	CYP24A1	C0231246	Failure to gain weight	0.2	0	0	HPO
1591	CYP24A1	C0332606	Elfin facies	0.2	0	0	HPO
1591	CYP24A1	C0392525	Nephrolithiasis	0.201648360705279	1	0	CTD_human
1591	CYP24A1	C0423903	Low intelligence	0.2	0	0	HPO
1591	CYP24A1	C0475732	Hypercalcemia, Infantile	0.6	1	5	HPO;ORPHANET;UNIPROT
1591	CYP24A1	C0917816	Mental deficiency	0.2	0	0	HPO
1591	CYP24A1	C1262477	Weight decreased	0.2	0	0	HPO
1591	CYP24A1	C1458155	Mammary Neoplasms	0.200549453568426	1	0	CTD_human
1591	CYP24A1	C1565489	Renal Insufficiency	0.2	1	0	CTD_human
1591	CYP24A1	C1839739	Prominent lower lip	0.2	0	0	HPO
1591	CYP24A1	C1843367	Poor school performance	0.2	0	0	HPO
1591	CYP24A1	C1956257	Pulmonary Stenosis	0.2	0	0	HPO
1591	CYP24A1	C2053437	Full lower lip	0.2	0	0	HPO
1591	CYP24A1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1591	CYP24A1	C3714756	Intellectual Disability	0.2	0	0	HPO
1591	CYP24A1	C4020876	Dull intelligence	0.2	0	0	HPO
1591	CYP24A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1591	CYP24A1	C4280679	Increased calcium level in kidney	0.2	0	0	HPO
1592	CYP26A1	C0001418	Adenocarcinoma	0.200274726784213	1	0	CTD_human
1592	CYP26A1	C0004763	Barrett Esophagus	0.2	1	0	CTD_human
1592	CYP26A1	C0009375	Colonic Neoplasms	0.200274726784213	1	0	CTD_human
1592	CYP26A1	C0014175	Endometriosis	0.2	1	0	CTD_human
1592	CYP26A1	C0014859	Esophageal Neoplasms	0.2	1	0	CTD_human
1592	CYP26A1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1592	CYP26A1	C0032580	Adenomatous Polyposis Coli	0.200274726784213	1	0	CTD_human
1593	CYP27A1	C0002962	Angina Pectoris	0.2	0	0	HPO
1593	CYP27A1	C0004153	Atherosclerosis	0.203831819601666	2	0	CTD_human
1593	CYP27A1	C0005944	Metabolic Bone Disorder	0.2	1	0	CTD_human
1593	CYP27A1	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1593	CYP27A1	C0008350	Cholelithiasis	0.2	0	0	HPO
1593	CYP27A1	C0008370	Cholestasis	0.200274726784213	1	0	CTD_human
1593	CYP27A1	C0011253	Delusions	0.2	0	0	HPO
1593	CYP27A1	C0011581	Depressive disorder	0.2	0	0	HPO
1593	CYP27A1	C0011991	Diarrhea	0.200274726784213	0	0	HPO
1593	CYP27A1	C0013421	Dystonia	0.2	0	0	HPO
1593	CYP27A1	C0014544	Epilepsy	0.2	0	0	HPO
1593	CYP27A1	C0015371	Extrapyramidal Disorders	0.2	0	0	HPO
1593	CYP27A1	C0018524	Hallucinations	0.2	0	0	HPO
1593	CYP27A1	C0020443	Hypercholesterolemia	0.200274726784213	0	0	HPO
1593	CYP27A1	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
1593	CYP27A1	C0025362	Mental Retardation	0.2	0	0	HPO
1593	CYP27A1	C0026838	Muscle Spasticity	0.2	0	0	HPO
1593	CYP27A1	C0027051	Myocardial Infarction	0.2	0	0	HPO
1593	CYP27A1	C0027066	Myoclonus	0.2	0	0	HPO
1593	CYP27A1	C0029456	Osteoporosis	0.2	0	0	HPO
1593	CYP27A1	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1593	CYP27A1	C0033790	Pseudobulbar Palsy	0.2	0	0	HPO
1593	CYP27A1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1593	CYP27A1	C0036572	Seizures	0.2	0	0	HPO
1593	CYP27A1	C0037822	Speech Disorders	0.2	0	0	HPO
1593	CYP27A1	C0040822	Tremor	0.2	0	0	HPO
1593	CYP27A1	C0086543	Cataract	0.200274726784213	0	0	HPO
1593	CYP27A1	C0151786	Muscle Weakness	0.2	0	0	HPO
1593	CYP27A1	C0151889	Hyperreflexia	0.2	0	0	HPO
1593	CYP27A1	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1593	CYP27A1	C0155210	Eyelid Xanthoma	0.2	0	0	HPO
1593	CYP27A1	C0221253	Xanthoma tendinosum	0.2	0	0	HPO
1593	CYP27A1	C0234132	Pyramidal sign	0.2	0	0	HPO
1593	CYP27A1	C0234133	Extrapyramidal sign	0.2	0	0	HPO
1593	CYP27A1	C0235153	Hallucinations, Sensory	0.2	0	0	HPO
1593	CYP27A1	C0235946	Cerebral atrophy	0.2	0	0	HPO
1593	CYP27A1	C0238052	Xanthomatosis, Cerebrotendinous	0.63891071571704	9	52	CTD_human;ORPHANET;UNIPROT
1593	CYP27A1	C0262404	Cerebellar degeneration	0.2	0	0	HPO
1593	CYP27A1	C0302314	Xanthoma	0.201098907136852	0	0	HPO
1593	CYP27A1	C0423903	Low intelligence	0.2	0	0	HPO
1593	CYP27A1	C0442874	Neuropathy	0.2	0	0	HPO
1593	CYP27A1	C0497327	Dementia	0.2	0	0	HPO
1593	CYP27A1	C0554970	Pallor of optic disc	0.2	0	0	HPO
1593	CYP27A1	C0595929	Serum cholesterol raised	0.2	0	0	HPO
1593	CYP27A1	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
1593	CYP27A1	C0917816	Mental deficiency	0.2	0	0	HPO
1593	CYP27A1	C1510497	Lens Opacities	0.2	0	0	HPO
1593	CYP27A1	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1593	CYP27A1	C1836830	Developmental regression	0.2	0	0	HPO
1593	CYP27A1	C1843367	Poor school performance	0.2	0	0	HPO
1593	CYP27A1	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1593	CYP27A1	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1593	CYP27A1	C1855019	Psychomotor regression	0.2	0	0	HPO
1593	CYP27A1	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1593	CYP27A1	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1593	CYP27A1	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1593	CYP27A1	C2673431	Periventricular white matter abnormalities	0.2	0	0	HPO
1593	CYP27A1	C3714756	Intellectual Disability	0.2	0	0	HPO
1593	CYP27A1	C4020855	Respiratory function loss	0.2	0	0	HPO
1593	CYP27A1	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1593	CYP27A1	C4020871	Dystonic disease	0.2	0	0	HPO
1593	CYP27A1	C4020873	Infratentorial atrophy	0.2	0	0	HPO
1593	CYP27A1	C4020876	Dull intelligence	0.2	0	0	HPO
1593	CYP27A1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1593	CYP27A1	C4021217	EEG with generalized slow activity	0.2	0	0	HPO
1593	CYP27A1	C4022148	Abnormality of the dentate nucleus	0.2	0	0	HPO
1593	CYP27A1	C4022163	Abnormality of central somatosensory evoked potentials	0.2	0	0	HPO
1593	CYP27A1	C4025609	EMG: axonal abnormality	0.2	0	0	HPO
1593	CYP27A1	C4025656	Abnormality of cholesterol metabolism	0.2	0	0	HPO
1593	CYP27A1	C4025846	Abnormality of vision	0.2	0	0	HPO
1593	CYP27A1	C4280601	Xanthoma of periocular region	0.2	0	0	HPO
1593	CYP27A1	C4280602	Xanthelasma of periocular region	0.2	0	0	HPO
1594	CYP27B1	C0011351	Dental Enamel Hypoplasia	0.2	0	0	HPO
1594	CYP27B1	C0020437	Hypercalcemia	0.200549453568426	1	0	CTD_human
1594	CYP27B1	C0020503	Hyperparathyroidism, Secondary	0.200274726784213	0	0	HPO
1594	CYP27B1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1594	CYP27B1	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
1594	CYP27B1	C0035579	Rickets	0.402747267842131	1	0	CTD_human;HPO
1594	CYP27B1	C0085655	Polymyositis	0.2	1	0	CTD_human
1594	CYP27B1	C0085682	Hypophosphatemia	0.2	0	0	HPO
1594	CYP27B1	C0151686	Growth retardation	0.2	0	0	HPO
1594	CYP27B1	C0151825	Bone pain	0.2	0	0	HPO
1594	CYP27B1	C0221354	Frontal bossing	0.2	0	0	HPO
1594	CYP27B1	C0231246	Failure to gain weight	0.2	0	0	HPO
1594	CYP27B1	C0239174	Late tooth eruption	0.2	0	0	HPO
1594	CYP27B1	C0241237	Difficulty standing	0.2	0	0	HPO
1594	CYP27B1	C0268689	Vitamin D-dependent rickets, type 1	0.685494535684262	5	17	CTD_human;ORPHANET;UNIPROT
1594	CYP27B1	C0311394	Difficulty walking	0.2	0	0	HPO
1594	CYP27B1	C0349204	Nonorganic psychosis	0.200274726784213	1	0	PSYGENET
1594	CYP27B1	C0456070	Growth delay	0.2	0	0	HPO
1594	CYP27B1	C0544755	Genu varum	0.2	0	0	HPO
1594	CYP27B1	C0750857	Alkaline phosphatase serum increased	0.2	0	0	HPO
1594	CYP27B1	C0857973	Increased serum parathyroid hormone	0.2	0	0	HPO
1594	CYP27B1	C0878787	Growth failure	0.2	0	0	HPO
1594	CYP27B1	C1833324	Sparse bone trabeculae	0.2	0	0	HPO
1594	CYP27B1	C1833325	Thin bony cortex	0.2	0	0	HPO
1594	CYP27B1	C1833329	'Bulging' epiphyses	0.2	0	0	HPO
1594	CYP27B1	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1594	CYP27B1	C1837081	Tibial bowing	0.2	0	0	HPO
1594	CYP27B1	C1837385	Poor growth	0.2	0	0	HPO
1594	CYP27B1	C1837402	Flat occiput	0.2	0	0	HPO
1594	CYP27B1	C1838659	Deformed rib cage	0.2	0	0	HPO
1594	CYP27B1	C1838662	Metaphyseal irregularity	0.2	0	0	HPO
1594	CYP27B1	C1838663	Enlargement of the wrists	0.2	0	0	HPO
1594	CYP27B1	C1838664	Enlargement of the ankles	0.2	0	0	HPO
1594	CYP27B1	C1847868	Generalized aminoaciduria	0.2	0	0	HPO
1594	CYP27B1	C1848538	'Bulging' of the costochondral junction	0.2	0	0	HPO
1594	CYP27B1	C1848541	Subperiosteal erosions due to secondary hyperparathyroidism	0.2	0	0	HPO
1594	CYP27B1	C1849300	Widely patent fontanels and sutures	0.2	0	0	HPO
1594	CYP27B1	C1851854	Thin dental enamel	0.2	0	0	HPO
1594	CYP27B1	C1854301	Motor delay	0.2	0	0	HPO
1594	CYP27B1	C1854928	Protuberant abdomen	0.2	0	0	HPO
1594	CYP27B1	C1855841	Hypocalcaemic seizure	0.2	0	0	HPO
1594	CYP27B1	C1857180	Enlargement of the costochondral junction	0.2	0	0	HPO
1594	CYP27B1	C1859461	Femoral bowing	0.2	0	0	HPO
1594	CYP27B1	C1865200	Delayed epiphyseal ossification	0.2	0	0	HPO
1594	CYP27B1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1594	CYP27B1	C2700617	Irritation - emotion	0.2	0	0	HPO
1594	CYP27B1	C3552463	Very poor growth	0.2	0	0	HPO
1594	CYP27B1	C3805574	Increased fracture rate	0.2	0	0	HPO
1594	CYP27B1	C3806283	Frequent fractures	0.2	0	0	HPO
1594	CYP27B1	C4020874	No development of motor milestones	0.2	0	0	HPO
1594	CYP27B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1594	CYP27B1	C4021527	Abdominal wall muscle weakness	0.2	0	0	HPO
1594	CYP27B1	C4023801	Fibular bowing	0.2	0	0	HPO
1594	CYP27B1	C4280456	Dysplasia of tooth enamel	0.2	0	0	HPO
1594	CYP27B1	C4280457	Defective enamel matrix	0.2	0	0	HPO
1594	CYP27B1	C4280482	Flat back of the head	0.2	0	0	HPO
1594	CYP27B1	C4280565	Delayed maturation of end part of long bone	0.2	0	0	HPO
16	AARS	C0005747	Blepharospasm	0.2	0	0	HPO
16	AARS	C0008489	Chorea	0.2	0	0	HPO
16	AARS	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
16	AARS	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
16	AARS	C0026827	Muscle hypotonia	0.2	0	0	HPO
16	AARS	C0026838	Muscle Spasticity	0.2	0	0	HPO
16	AARS	C0028738	Nystagmus	0.2	0	0	HPO
16	AARS	C0031117	Peripheral Neuropathy	0.200274726784213	0	0	HPO
16	AARS	C0085684	Foot-drop	0.2	0	0	HPO
16	AARS	C0154671	Degenerative brain disorder	0.2	0	0	HPO
16	AARS	C0231246	Failure to gain weight	0.2	0	0	HPO
16	AARS	C0234146	Absent reflex	0.2	0	0	HPO
16	AARS	C0234958	muscle degeneration	0.2	0	0	HPO
16	AARS	C0235946	Cerebral atrophy	0.2	0	0	HPO
16	AARS	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
16	AARS	C0270921	Axonal neuropathy	0.200274726784213	0	0	HPO
16	AARS	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
16	AARS	C0278124	Absent tendon reflex	0.2	0	0	HPO
16	AARS	C0349588	Short stature	0.2	0	0	HPO
16	AARS	C0424688	Small head	0.2	0	0	HPO
16	AARS	C0427065	Distal muscle weakness	0.2	0	0	HPO
16	AARS	C0442874	Neuropathy	0.200274726784213	0	0	HPO
16	AARS	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
16	AARS	C0543888	Epileptic encephalopathy	0.200274726784213	0	0	HPO
16	AARS	C0544820	Hypomyelination	0.2	0	0	HPO
16	AARS	C0557874	Global developmental delay	0.2	0	0	HPO
16	AARS	C0728829	Congenital pes cavus	0.2	0	0	HPO
16	AARS	C1136179	Hammer Toe	0.2	0	0	HPO
16	AARS	C1263857	Peripheral axonal neuropathy	0.2	0	0	HPO
16	AARS	C1386048	Intrauterine retardation	0.2	0	0	HPO
16	AARS	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
16	AARS	C1847584	Distal sensory impairment	0.2	0	0	HPO
16	AARS	C1858729	Decreased motor NCV	0.2	0	0	HPO
16	AARS	C1861403	Variable expressivity	0.2	0	0	HPO
16	AARS	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
16	AARS	C1864897	Cognitive delay	0.2	0	0	HPO
16	AARS	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
16	AARS	C1866862	Highly variable severity	0.2	0	0	HPO
16	AARS	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
16	AARS	C2750090	Charcot-Marie-Tooth Disease, Axonal, Type 2n	0.6	3	2	CTD_human;ORPHANET;UNIPROT
16	AARS	C2752013	Prenatal onset	0.2	0	0	HPO
16	AARS	C4020858	Choreatic disease	0.2	0	0	HPO
16	AARS	C4020860	Supratentorial atrophy	0.2	0	0	HPO
16	AARS	C4020875	Mental and motor retardation	0.2	0	0	HPO
16	AARS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
16	AARS	C4025616	CNS hypomyelination	0.2	0	0	HPO
16	AARS	C4225361	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29	0.2	1	2	UNIPROT
1600	DAB1	C0004352	Autistic Disorder	0.200824180352639	1	0	CTD_human
160364	CLEC12A	C0003873	Rheumatoid Arthritis	0.200274726784213	1	0	CTD_human
1604	CD55	C0014175	Endometriosis	0.2	1	0	CTD_human
1604	CD55	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
160428	ALDH1L2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
160492	LMNTD1	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1605	DAG1	C0020255	Hydrocephalus	0.2	0	0	HPO
1605	DAG1	C0020302	Hydrophthalmos	0.2	0	0	HPO
1605	DAG1	C0023012	Language Delay	0.2	0	0	HPO
1605	DAG1	C0023092	Lassa Fever	0.200274726784213	1	0	CTD_human
1605	DAG1	C0023520	Leukodystrophy	0.200274726784213	0	0	HPO
1605	DAG1	C0025362	Mental Retardation	0.200549453568426	0	0	HPO
1605	DAG1	C0026010	Microphthalmos	0.2	0	0	HPO
1605	DAG1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1605	DAG1	C0026850	Muscular Dystrophy	0.226619787314036	0	0	HPO
1605	DAG1	C0027092	Myopia	0.2	0	0	HPO
1605	DAG1	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1605	DAG1	C0086543	Cataract	0.2	0	0	HPO
1605	DAG1	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1605	DAG1	C0233715	Speech impairment	0.2	0	0	HPO
1605	DAG1	C0234182	Gowers sign	0.2	0	0	HPO
1605	DAG1	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1605	DAG1	C0241210	Speech Delay	0.2	0	0	HPO
1605	DAG1	C0265221	Walker-Warburg congenital muscular dystrophy	0.207142896389541	0	0	ORPHANET
1605	DAG1	C0266464	Polymicrogyria	0.200274726784213	0	0	HPO
1605	DAG1	C0270685	Cerebral calcification	0.2	0	0	HPO
1605	DAG1	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
1605	DAG1	C0423221	Globe of eye large	0.2	0	0	HPO
1605	DAG1	C0423903	Low intelligence	0.2	0	0	HPO
1605	DAG1	C0454644	Delayed speech and language development	0.2	0	0	HPO
1605	DAG1	C0557874	Global developmental delay	0.2	0	0	HPO
1605	DAG1	C0575071	Gowers sign present	0.2	0	0	HPO
1605	DAG1	C0746940	nonverbal	0.2	0	0	HPO
1605	DAG1	C0854723	Retinal Dystrophies	0.2	0	0	HPO
1605	DAG1	C0917816	Mental deficiency	0.2	0	0	HPO
1605	DAG1	C1145670	Respiratory Failure	0.2	0	0	HPO
1605	DAG1	C1184923	Lumbar lordosis	0.2	0	0	HPO
1605	DAG1	C1510497	Lens Opacities	0.2	0	0	HPO
1605	DAG1	C1836038	Poor head control	0.2	0	0	HPO
1605	DAG1	C1837407	Ankle contracture	0.2	0	0	HPO
1605	DAG1	C1840379	Cerebellar vermis hypoplasia	0.2	0	0	HPO
1605	DAG1	C1843367	Poor school performance	0.2	0	0	HPO
1605	DAG1	C1847762	Cerebellar cyst	0.2	0	0	HPO
1605	DAG1	C1848924	Infantile onset	0.2	0	0	HPO
1605	DAG1	C1854882	Absent speech	0.2	0	0	HPO
1605	DAG1	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1605	DAG1	C1861403	Variable expressivity	0.2	0	0	HPO
1605	DAG1	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
1605	DAG1	C1864897	Cognitive delay	0.2	0	0	HPO
1605	DAG1	C1866862	Highly variable severity	0.2	0	0	HPO
1605	DAG1	C3151184	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	0.48	2	4	ORPHANET;UNIPROT
1605	DAG1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1605	DAG1	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
1605	DAG1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1605	DAG1	C4020876	Dull intelligence	0.2	0	0	HPO
1605	DAG1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1605	DAG1	C4083076	Increased head circumference	0.2	0	0	HPO
1605	DAG1	C4225291	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	0.4	1	2	ORPHANET;UNIPROT
1605	DAG1	C4255213	Increased size of skull	0.2	0	0	HPO
1605	DAG1	C4280625	Decreased size of eyeball	0.2	0	0	HPO
1605	DAG1	C4280663	Increased size of cranium	0.2	0	0	HPO
1605	DAG1	C4280664	Big calvaria	0.2	0	0	HPO
1605	DAG1	C4280808	Abnormally small eyeball	0.2	0	0	HPO
1607	DGKB	C0005586	Bipolar Disorder	0.2	1	0	PSYGENET
1607	DGKB	C0011570	Mental Depression	0.2	1	0	PSYGENET
1607	DGKB	C0011581	Depressive disorder	0.2	1	0	PSYGENET
160728	SLC5A8	C0009375	Colonic Neoplasms	0.202732912464814	2	0	CTD_human
160728	SLC5A8	C0740394	Hyperuricemia	0.2	1	0	CTD_human
160760	PPTC7	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
160762	CCDC63	C0025202	melanoma	0.2	1	0	CTD_human
160851	DGKH	C0005586	Bipolar Disorder	0.212426539092596	5	1	PSYGENET
160851	DGKH	C0011881	Diabetic Nephropathy	0.2	1	0	CTD_human
160851	DGKH	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
160851	DGKH	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
160851	DGKH	C2678248	Mood instability	0.2	1	0	PSYGENET
1609	DGKQ	C1527336	Sjogren's Syndrome	0.2	1	0	CTD_human
1610	DAO	C0002736	Amyotrophic Lateral Sclerosis	0.400274726784213	0	0	HPO;ORPHANET
1610	DAO	C0003467	Anxiety	0.200549453568426	0	0	HPO
1610	DAO	C0004352	Autistic Disorder	0.202407028523288	1	0	CTD_human
1610	DAO	C0005586	Bipolar Disorder	0.211602358739956	5	0	PSYGENET
1610	DAO	C0011581	Depressive disorder	0.200274726784213	0	0	HPO
1610	DAO	C0013404	Dyspnea	0.2	0	0	HPO
1610	DAO	C0015672	Fatigue	0.2	0	0	HPO
1610	DAO	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1610	DAO	C0026821	Muscle Cramp	0.2	0	0	HPO
1610	DAO	C0026838	Muscle Spasticity	0.2	0	0	HPO
1610	DAO	C0027746	Nerve Degeneration	0.2	0	0	HPO
1610	DAO	C0030193	Pain	0.2	0	0	HPO
1610	DAO	C0036341	Schizophrenia	0.2629425204383	1	0	CTD_human
1610	DAO	C0043352	Xerostomia	0.2	0	0	HPO
1610	DAO	C0085633	Mood swings	0.2	0	0	HPO
1610	DAO	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1610	DAO	C0234958	muscle degeneration	0.2	0	0	HPO
1610	DAO	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1610	DAO	C0522224	Paralysed	0.2	0	0	HPO
1610	DAO	C0524851	Neurodegenerative Disorders	0.2	0	0	HPO
1610	DAO	C0525045	Mood Disorders	0.200549453568426	1	0	PSYGENET
1610	DAO	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1610	DAO	C0746674	Generalized muscle weakness	0.2	0	0	HPO
1610	DAO	C0853193	Bipolar I disorder	0.200274726784213	1	0	PSYGENET
1610	DAO	C1145670	Respiratory Failure	0.2	0	0	HPO
1610	DAO	C1839839	MAJOR AFFECTIVE DISORDER 2	0.202956482091714	1	0	PSYGENET
1610	DAO	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1610	DAO	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
1610	DAO	C4020884	Anxiety disease	0.2	0	0	HPO
1610	DAO	C4022587	Fatigable weakness of respiratory muscles	0.2	0	0	HPO
1610	DAO	C4022588	Fatigable weakness of swallowing muscles	0.2	0	0	HPO
1611	DAP	C0009324	Ulcerative Colitis	0.200549453568426	1	2	CTD_human
1612	DAPK1	C0001418	Adenocarcinoma	0.200824180352639	1	0	CTD_human
1612	DAPK1	C0006118	Brain Neoplasms	0.2	1	0	CTD_human
1612	DAPK1	C0007131	Non-Small Cell Lung Carcinoma	0.201648360705279	1	0	CTD_human
1612	DAPK1	C0007134	Renal Cell Carcinoma	0.204106546385879	1	0	CTD_human
1612	DAPK1	C0007138	Carcinoma, Transitional Cell	0.201373633921065	1	0	CTD_human
1612	DAPK1	C0009759	Conjunctival Diseases	0.2	1	0	CTD_human
1612	DAPK1	C0010606	Adenoid Cystic Carcinoma	0.200274726784213	1	0	CTD_human
1612	DAPK1	C0023467	Leukemia, Myelocytic, Acute	0.203831819601666	1	0	CTD_human
1612	DAPK1	C0024121	Lung Neoplasms	0.20328236603324	1	0	CTD_human
1612	DAPK1	C0027627	Neoplasm Metastasis	0.201373633921065	1	0	CTD_human
1612	DAPK1	C0031117	Peripheral Neuropathy	0.2	1	0	CTD_human
1612	DAPK1	C0035242	Respiratory Tract Diseases	0.2	1	0	CTD_human
1612	DAPK1	C0036095	Salivary Gland Neoplasms	0.200274726784213	1	0	CTD_human
1612	DAPK1	C0085183	Neoplasms, Second Primary	0.2	1	0	CTD_human
1612	DAPK1	C3463824	MYELODYSPLASTIC SYNDROME	0.201373633921065	1	0	CTD_human
1612	DAPK1	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
161424	NOP9	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
161436	EML5	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
161497	STRC	C1863561	Deafness, Autosomal Recessive 16	0.280274726784213	0	0	CTD_human
161497	STRC	C1970187	Deafness, Sensorineural, And Male Infertility	0.2	0	0	ORPHANET
1615	DARS	C0026838	Muscle Spasticity	0.200274726784213	0	0	HPO
1615	DARS	C0028738	Nystagmus	0.2	0	0	HPO
1615	DARS	C0034935	Babinski Reflex	0.2	0	0	HPO
1615	DARS	C0151889	Hyperreflexia	0.2	0	0	HPO
1615	DARS	C0270612	Leukoencephalopathies	0.201098907136852	0	0	HPO
1615	DARS	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
1615	DARS	C0544820	Hypomyelination	0.2	0	0	HPO
1615	DARS	C1848924	Infantile onset	0.2	0	0	HPO
1615	DARS	C1853743	Axial hypotonia	0.2	0	0	HPO
1615	DARS	C1854301	Motor delay	0.2	0	0	HPO
1615	DARS	C1864985	Progressive disorder	0.2	0	0	HPO
1615	DARS	C3809008	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY	0.400274726784213	1	8	ORPHANET;UNIPROT
1615	DARS	C4020874	No development of motor milestones	0.2	0	0	HPO
1615	DARS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1615	DARS	C4025616	CNS hypomyelination	0.2	0	0	HPO
1616	DAXX	C0030297	Pancreatic Neoplasm	0.200274726784213	1	0	CTD_human
1616	DAXX	C0206686	Adrenocortical carcinoma	0.2	1	0	CTD_human
1616	DAXX	C0206754	Neuroendocrine Tumors	0.200549453568426	1	0	CTD_human
161742	SPRED1	C0027831	Neurofibromatosis 1	0.211393144490373	1	0	CTD_human
161742	SPRED1	C0221263	Cafe-au-Lait Spots	0.202407028523288	1	0	CTD_human
161742	SPRED1	C0497552	Congenital neurologic anomalies	0.2	1	0	CTD_human
161742	SPRED1	C1969623	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	0.683296721410557	2	10	CTD_human;ORPHANET;UNIPROT
1618	DAZL	C1336708	Testicular Germ Cell Tumor	0.2	1	0	CTD_human
1621	DBH	C0001973	Alcoholic Intoxication, Chronic	0.207561324888707	5	0	PSYGENET
1621	DBH	C0005586	Bipolar Disorder	0.201098907136852	5	0	PSYGENET
1621	DBH	C0005745	Blepharoptosis	0.2	0	0	HPO
1621	DBH	C0011570	Mental Depression	0.200824180352639	5	0	PSYGENET
1621	DBH	C0011581	Depressive disorder	0.201098907136852	5	0	PSYGENET
1621	DBH	C0014544	Epilepsy	0.200549453568426	0	0	HPO
1621	DBH	C0020651	Hypotension, Orthostatic	0.2	0	0	HPO
1621	DBH	C0027819	Neuroblastoma	0.201923087489492	1	0	CTD_human
1621	DBH	C0028734	Nocturia	0.2	0	0	HPO
1621	DBH	C0031511	Pheochromocytoma	0.200824180352639	1	0	CTD_human
1621	DBH	C0036572	Seizures	0.2	0	0	HPO
1621	DBH	C0041696	Unipolar Depression	0.200824180352639	3	0	PSYGENET
1621	DBH	C0158986	Neonatal hypoglycemia	0.2	0	0	HPO
1621	DBH	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1621	DBH	C0342687	dopamine beta hydroxylase deficiency	0.680274726784213	1	8	CTD_human;ORPHANET;UNIPROT
1621	DBH	C0403673	Retrograde ejaculation	0.2	0	0	HPO
1621	DBH	C0525045	Mood Disorders	0.201098907136852	4	0	PSYGENET
1621	DBH	C0600427	Cocaine Dependence	0.202197814273705	5	0	PSYGENET
1621	DBH	C1269683	Major Depressive Disorder	0.200824180352639	3	0	PSYGENET
1621	DBH	C1306067	Drug-induced paranoid state	0.2	3	0	PSYGENET
1621	DBH	C1456784	Paranoia	0.203780662444353	3	0	CTD_human
1621	DBH	C1837639	Intermittent hypothermia	0.2	0	0	HPO
1621	DBH	C3160718	PARKINSON DISEASE, LATE-ONSET	0.2	0	0	CTD_human
1621	DBH	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1622	DBI	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1622	DBI	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1622	DBI	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
1622	DBI	C0036341	Schizophrenia	0.200549453568426	1	0	PSYGENET
162417	NAGS	C0220994	Hyperammonemia	0.202197814273705	3	0	CTD_human
162417	NAGS	C0268543	Hyperammonemia, type III	0.681098907136852	3	10	CTD_human;ORPHANET;UNIPROT
162514	TRPV3	C2609071	Olmsted syndrome	0.402197814273705	2	3	ORPHANET;UNIPROT
162514	TRPV3	C4225339	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2	0.4	1	1	ORPHANET;UNIPROT
1627	DBN1	C0005586	Bipolar Disorder	0.2	1	0	PSYGENET
1627	DBN1	C0036341	Schizophrenia	0.200549453568426	3	0	PSYGENET
1629	DBT	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1629	DBT	C0006114	Cerebral Edema	0.2	0	0	HPO
1629	DBT	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1629	DBT	C0009421	Comatose	0.2	0	0	HPO
1629	DBT	C0014544	Epilepsy	0.2	0	0	HPO
1629	DBT	C0018524	Hallucinations	0.2	0	0	HPO
1629	DBT	C0020615	Hypoglycemia	0.2	0	0	HPO
1629	DBT	C0022638	Ketosis	0.2	0	0	HPO
1629	DBT	C0023380	Lethargy	0.2	0	0	HPO
1629	DBT	C0024776	Maple Syrup Urine Disease	0.695001394465139	2	19	CTD_human;ORPHANET;UNIPROT
1629	DBT	C0025362	Mental Retardation	0.2	0	0	HPO
1629	DBT	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1629	DBT	C0026827	Muscle hypotonia	0.2	0	0	HPO
1629	DBT	C0030305	Pancreatitis	0.2	0	0	HPO
1629	DBT	C0036572	Seizures	0.2	0	0	HPO
1629	DBT	C0042963	Vomiting	0.2	0	0	HPO
1629	DBT	C0235153	Hallucinations, Sensory	0.2	0	0	HPO
1629	DBT	C0235430	Ketonemia	0.2	0	0	HPO
1629	DBT	C0262361	abnormal growth	0.2	0	0	HPO
1629	DBT	C0268568	Classic Maple Syrup Urine Disease	0.2	0	0	ORPHANET
1629	DBT	C0268569	Intermittent Maple Syrup Urine Disease	0.2	0	0	ORPHANET
1629	DBT	C0347959	Lactic acidemia	0.2	0	0	HPO
1629	DBT	C0423903	Low intelligence	0.2	0	0	HPO
1629	DBT	C0751285	Maple Syrup Urine Disease, Thiamine Responsive	0.200274726784213	0	0	ORPHANET
1629	DBT	C0917816	Mental deficiency	0.2	0	0	HPO
1629	DBT	C1527311	Brain Edema	0.2	0	0	HPO
1629	DBT	C1621920	Intermediate Maple Syrup Urine Disease	0.2	0	0	ORPHANET
1629	DBT	C1843367	Poor school performance	0.2	0	0	HPO
1629	DBT	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1629	DBT	C3714756	Intellectual Disability	0.2	0	0	HPO
1629	DBT	C4020876	Dull intelligence	0.2	0	0	HPO
1629	DBT	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1629	DBT	C4024697	Elevated plasma branched chain amino acids	0.2	0	0	HPO
163	AP2B1	C0086132	Depressive Symptoms	0.200274726784213	1	0	PSYGENET
1630	DCC	C0007134	Renal Cell Carcinoma	0.2	0	0	HPO
1630	DCC	C0007137	Squamous cell carcinoma	0.206015278498054	0	0	HPO
1630	DCC	C0009404	Colorectal Neoplasms	0.209572371315507	1	0	CTD_human
1630	DCC	C0025202	melanoma	0.2	1	0	CTD_human
1630	DCC	C0036341	Schizophrenia	0.202681755307501	1	1	PSYGENET
1630	DCC	C0038356	Stomach Neoplasms	0.202732912464814	0	0	HPO
1630	DCC	C0279680	Transitional cell carcinoma of bladder	0.2	0	0	HPO
1630	DCC	C0280631	Leiomyosarcoma of uterus	0.2	0	0	HPO
1630	DCC	C0454455	Mirror movements disorder	0.201098907136852	0	0	HPO
1630	DCC	C0751688	Malignant Squamous Cell Neoplasm	0.2	0	0	HPO
1630	DCC	C1834870	MIRROR MOVEMENTS 1	0.2	0	0	CTD_human
1630	DCC	C4020813	Increased gastric cancer	0.2	0	0	HPO
1630	DCC	C4024989	Hereditary nonpolyposis colorectal carcinoma	0.200274726784213	0	0	HPO
163223	ZNF676	C0040128	Thyroid Diseases	0.2	1	0	CTD_human
1634	DCN	C0014170	Endometrial Neoplasms	0.2	1	0	CTD_human
1634	DCN	C0016059	Fibrosis	0.2	1	0	CTD_human
1634	DCN	C0027707	Nephritis, Interstitial	0.2	1	0	CTD_human
1634	DCN	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1634	DCN	C0238288	Muscular Dystrophy, Facioscapulohumeral	0.2	1	0	CTD_human
1634	DCN	C1611195	Congenital corneal dystrophy	0.2	0	0	HPO
1634	DCN	C1839364	Progressive visual loss	0.2	0	0	HPO
1634	DCN	C1864738	Corneal Dystrophy, Congenital Stromal	0.481373633921066	0	0	CTD_human;ORPHANET
1634	DCN	C3277697	Decreased visual acuity, progressive	0.2	0	0	HPO
1634	DCN	C3810451	Increased corneal thickness	0.2	0	0	HPO
163486	DENND1B	C0010346	Crohn Disease	0.2	1	2	CTD_human
163486	DENND1B	C0023892	Biliary cirrhosis	0.2	1	0	CTD_human
1636	ACE	C0001418	Adenocarcinoma	0.202407028523288	1	0	CTD_human
1636	ACE	C0001925	Albuminuria	0.224396169174406	1	0	CTD_human
1636	ACE	C0001973	Alcoholic Intoxication, Chronic	0.20777053913829	3	0	PSYGENET
1636	ACE	C0002395	Alzheimer's Disease	0.319445813908148	4	0	CTD_human
1636	ACE	C0003460	Anuria	0.200549453568426	0	0	HPO
1636	ACE	C0003811	Cardiac Arrhythmia	0.205139940988102	1	0	CTD_human
1636	ACE	C0004238	Atrial Fibrillation	0.238862465448436	1	0	CTD_human
1636	ACE	C0004352	Autistic Disorder	0.200274726784213	1	0	CTD_human
1636	ACE	C0005138	Berylliosis	0.2	1	0	CTD_human
1636	ACE	C0005586	Bipolar Disorder	0.211001748014218	4	0	PSYGENET
1636	ACE	C0007222	Cardiovascular Diseases	0.340950121202965	3	0	CTD_human
1636	ACE	C0007786	Brain Ischemia	0.245733541942472	1	0	CTD_human
1636	ACE	C0010068	Coronary heart disease	0.330810099702106	1	0	CTD_human
1636	ACE	C0010200	Coughing	0.215946830130053	2	0	CTD_human
1636	ACE	C0011071	Sudden death	0.2	1	0	CTD_human
1636	ACE	C0011581	Depressive disorder	0.206527930286485	1	0	PSYGENET
1636	ACE	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1636	ACE	C0011881	Diabetic Nephropathy	0.416576939058233	4	0	CTD_human
1636	ACE	C0013182	Drug Allergy	0.202681755307501	1	0	CTD_human
1636	ACE	C0017205	Gaucher Disease	0.202407028523288	1	0	CTD_human
1636	ACE	C0017661	IGA Glomerulonephritis	0.2584732883309	2	0	CTD_human
1636	ACE	C0017924	Glycogen Storage Disease Type V	0.213785817636344	1	0	CTD_human
1636	ACE	C0018801	Heart failure	0.359299688042159	1	0	CTD_human
1636	ACE	C0020538	Hypertensive disease	0.52	2	0	CTD_human
1636	ACE	C0020542	Pulmonary Hypertension	0.212686910499492	1	0	CTD_human
1636	ACE	C0020649	Hypotension	0.4	1	0	CTD_human;HPO
1636	ACE	C0021295	Infant, Premature, Diseases	0.204814057046576	1	0	CTD_human
1636	ACE	C0021364	Male infertility	0.200549453568426	1	0	CTD_human
1636	ACE	C0022658	Kidney Diseases	0.286262080936751	1	0	CTD_human
1636	ACE	C0022661	Kidney Failure, Chronic	0.305520880177184	2	0	CTD_human
1636	ACE	C0024115	Lung diseases	0.208319992706716	1	0	CTD_human
1636	ACE	C0024121	Lung Neoplasms	0.20754696951139	1	0	CTD_human
1636	ACE	C0025303	Meningococcal Infections	0.202956482091714	1	0	CTD_human
1636	ACE	C0027051	Myocardial Infarction	0.42696155846141	2	0	CTD_human
1636	ACE	C0027627	Neoplasm Metastasis	0.200824180352639	1	0	CTD_human
1636	ACE	C0032310	Pneumonia, Viral	0.202407028523288	1	0	CTD_human
1636	ACE	C0032914	Pre-Eclampsia	0.247037077708575	1	0	CTD_human
1636	ACE	C0033578	Prostatic Neoplasms	0.205139940988102	1	0	CTD_human
1636	ACE	C0033941	Psychoses, Substance-Induced	0.2	1	0	CTD_human
1636	ACE	C0035229	Respiratory Insufficiency	0.202407028523288	0	0	HPO
1636	ACE	C0035242	Respiratory Tract Diseases	0.202407028523288	1	0	CTD_human
1636	ACE	C0036341	Schizophrenia	0.223754171048339	4	0	PSYGENET
1636	ACE	C0038160	Staphylococcal Infections	0.2	1	0	CTD_human
1636	ACE	C0038356	Stomach Neoplasms	0.215368665806993	1	0	CTD_human
1636	ACE	C0038454	Cerebrovascular accident	0.381106646466705	1	0	CTD_human
1636	ACE	C0041696	Unipolar Depression	0.203021994626344	2	0	PSYGENET
1636	ACE	C0043094	Weight Gain	0.21203514261644	1	0	CTD_human
1636	ACE	C0079924	Oligohydramnios	0.2	0	0	HPO
1636	ACE	C0086132	Depressive Symptoms	0.200549453568426	1	0	PSYGENET
1636	ACE	C0149721	Left Ventricular Hypertrophy	0.396741612197969	1	0	CTD_human
1636	ACE	C0221765	Chronic schizophrenia	0.200824180352639	1	0	PSYGENET
1636	ACE	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1636	ACE	C0266313	Allanson Pantzar McLeod syndrome	0.601098907136852	2	7	CTD_human;HPO;ORPHANET
1636	ACE	C0266619	Potter's facies	0.2	0	0	HPO
1636	ACE	C0344315	Depressed mood	0.2	3	0	PSYGENET
1636	ACE	C0400966	Non-alcoholic Fatty Liver Disease	0.2	1	0	CTD_human
1636	ACE	C0424688	Small head	0.2	0	0	HPO
1636	ACE	C0455503	H/O: depression	0.2	1	0	PSYGENET
1636	ACE	C0948480	Coronary Restenosis	0.223586344199084	1	0	CTD_human
1636	ACE	C1175175	Severe Acute Respiratory Syndrome	0.205363510615002	1	0	CTD_human
1636	ACE	C1269683	Major Depressive Disorder	0.203021994626344	2	0	PSYGENET
1636	ACE	C1565489	Renal Insufficiency	0.208110778457133	1	0	CTD_human
1636	ACE	C1839839	MAJOR AFFECTIVE DISORDER 2	0.202681755307501	1	0	PSYGENET
1636	ACE	C1849300	Widely patent fontanels and sutures	0.2	0	0	HPO
1636	ACE	C1956346	Coronary Artery Disease	0.361435945760801	1	0	CTD_human
1636	ACE	C2239176	Liver carcinoma	0.204381273170092	1	0	CTD_human
1636	ACE	C2675470	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)	0.2	0	0	CTD_human
1636	ACE	C2676832	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)	0.2	0	0	CTD_human
1636	ACE	C2937358	Cerebral Hemorrhage	0.20754696951139	1	0	CTD_human
1636	ACE	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
1636	ACE	C4020855	Respiratory function loss	0.2	0	0	HPO
1636	ACE	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
163702	IFNLR1	C0033860	Psoriasis	0.200549453568426	1	0	CTD_human
163786	SASS6	C1855081	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	0.2	0	0	ORPHANET
163786	SASS6	C4225338	MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	0.2	1	1	UNIPROT
163882	CNST	C0040128	Thyroid Diseases	0.2	1	0	CTD_human
1639	DCTN1	C0002736	Amyotrophic Lateral Sclerosis	0.403780662444354	0	0	HPO;ORPHANET
1639	DCTN1	C0003467	Anxiety	0.2	0	0	HPO
1639	DCTN1	C0011581	Depressive disorder	0.2	0	0	HPO
1639	DCTN1	C0013362	Dysarthria	0.2	0	0	HPO
1639	DCTN1	C0013404	Dyspnea	0.2	0	0	HPO
1639	DCTN1	C0015672	Fatigue	0.2	0	0	HPO
1639	DCTN1	C0026821	Muscle Cramp	0.2	0	0	HPO
1639	DCTN1	C0026837	Muscle Rigidity	0.2	0	0	HPO
1639	DCTN1	C0026838	Muscle Spasticity	0.2	0	0	HPO
1639	DCTN1	C0027746	Nerve Degeneration	0.202732912464814	0	0	HPO
1639	DCTN1	C0030193	Pain	0.2	0	0	HPO
1639	DCTN1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1639	DCTN1	C0037317	Sleep disturbances	0.2	0	0	HPO
1639	DCTN1	C0040822	Tremor	0.2	0	0	HPO
1639	DCTN1	C0042928	Vocal Cord Paralysis	0.2	0	0	HPO
1639	DCTN1	C0043352	Xerostomia	0.2	0	0	HPO
1639	DCTN1	C0085632	Apathy	0.2	0	0	HPO
1639	DCTN1	C0085633	Mood swings	0.2	0	0	HPO
1639	DCTN1	C0233522	Inappropriate behavior	0.2	0	0	HPO
1639	DCTN1	C0233565	Bradykinesia	0.2	0	0	HPO
1639	DCTN1	C0234958	muscle degeneration	0.2	0	0	HPO
1639	DCTN1	C0235063	Respiratory Depression	0.2	0	0	HPO
1639	DCTN1	C0239830	Hand muscle atrophy	0.2	0	0	HPO
1639	DCTN1	C0239831	Hand muscle weakness	0.2	0	0	HPO
1639	DCTN1	C0241700	Voice Fatigue	0.2	0	0	HPO
1639	DCTN1	C0242422	Parkinsonian Disorders	0.400274726784213	1	0	CTD_human;HPO
1639	DCTN1	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1639	DCTN1	C0339652	Vertical gaze palsy	0.2	0	0	HPO
1639	DCTN1	C0376175	Bell Palsy	0.2	0	0	HPO
1639	DCTN1	C0424448	Mask-like facies	0.2	0	0	HPO
1639	DCTN1	C0427055	Facial Paresis	0.2	0	0	HPO
1639	DCTN1	C0427065	Distal muscle weakness	0.2	0	0	HPO
1639	DCTN1	C0427068	Monoparesis - leg	0.2	0	0	HPO
1639	DCTN1	C0521007	Hypophonia	0.2	0	0	HPO
1639	DCTN1	C0522224	Paralysed	0.2	0	0	HPO
1639	DCTN1	C0524851	Neurodegenerative Disorders	0.20328236603324	0	0	HPO
1639	DCTN1	C0525045	Mood Disorders	0.2	1	0	CTD_human
1639	DCTN1	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1639	DCTN1	C0746674	Generalized muscle weakness	0.2	0	0	HPO
1639	DCTN1	C0917801	Sleeplessness	0.2	0	0	HPO
1639	DCTN1	C1145670	Respiratory Failure	0.200274726784213	0	0	HPO
1639	DCTN1	C1262477	Weight decreased	0.2	0	0	HPO
1639	DCTN1	C1836296	Weakness of lower limb	0.2	0	0	HPO
1639	DCTN1	C1838681	Rapidly progressive	0.2	0	0	HPO
1639	DCTN1	C1843315	Neuronopathy, Distal Hereditary Motor, Type Viib	0.4	5	1	CTD_human;UNIPROT
1639	DCTN1	C1843369	Vertical supranuclear gaze palsy	0.2	0	0	HPO
1639	DCTN1	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1639	DCTN1	C1848736	Distal amyotrophy	0.2	0	0	HPO
1639	DCTN1	C1850776	Rapidly progressive disorder	0.2	0	0	HPO
1639	DCTN1	C1853562	Adult onset	0.2	0	0	HPO
1639	DCTN1	C1854494	Slow progression	0.2	0	0	HPO
1639	DCTN1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1639	DCTN1	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.4	2	3	CTD_human;UNIPROT
1639	DCTN1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1639	DCTN1	C1865412	Abnormal lower motor neuron morphology	0.2	0	0	HPO
1639	DCTN1	C1868594	Perry Syndrome	0.602472541057918	6	9	CTD_human;ORPHANET;UNIPROT
1639	DCTN1	C3203358	Hypoventilation	0.4	1	0	CTD_human;HPO
1639	DCTN1	C3805715	Shuffling, short-stepped gait	0.2	0	0	HPO
1639	DCTN1	C3805839	Central hypoventilation	0.2	0	0	HPO
1639	DCTN1	C4020854	Neuro-degenerative disease	0.2	0	0	HPO
1639	DCTN1	C4020855	Respiratory function loss	0.2	0	0	HPO
1639	DCTN1	C4020884	Anxiety disease	0.2	0	0	HPO
1639	DCTN1	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1639	DCTN1	C4022587	Fatigable weakness of respiratory muscles	0.2	0	0	HPO
1639	DCTN1	C4022588	Fatigable weakness of swallowing muscles	0.2	0	0	HPO
164045	HFM1	C3810376	PREMATURE OVARIAN FAILURE 9	0.2	1	4	UNIPROT
1641	DCX	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1641	DCX	C0013362	Dysarthria	0.2	0	0	HPO
1641	DCX	C0014544	Epilepsy	0.205205453522732	0	0	HPO
1641	DCX	C0025362	Mental Retardation	0.201098907136852	0	0	HPO
1641	DCX	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1641	DCX	C0026827	Muscle hypotonia	0.2	0	0	HPO
1641	DCX	C0028738	Nystagmus	0.2	0	0	HPO
1641	DCX	C0036572	Seizures	0.200274726784213	0	0	HPO
1641	DCX	C0036857	Severe mental retardation (I.Q. 20-34)	0.200549453568426	0	0	HPO
1641	DCX	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1641	DCX	C0232466	Feeding difficulties	0.2	0	0	HPO
1641	DCX	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1641	DCX	C0266463	Lissencephaly	0.207417623173754	0	0	HPO
1641	DCX	C0266483	Pachygyria	0.201098907136852	0	0	HPO
1641	DCX	C0423903	Low intelligence	0.2	0	0	HPO
1641	DCX	C0917816	Mental deficiency	0.2	0	0	HPO
1641	DCX	C1843367	Poor school performance	0.2	0	0	HPO
1641	DCX	C1844947	Death in early childhood	0.2	0	0	HPO
1641	DCX	C1848199	X-Linked Lissencephaly	0.404120901763197	11	21	ORPHANET;UNIPROT
1641	DCX	C1848201	Subcortical Band Heterotopia	0.210989071368524	0	0	ORPHANET
1641	DCX	C1848924	Infantile onset	0.2	0	0	HPO
1641	DCX	C1853743	Axial hypotonia	0.2	0	0	HPO
1641	DCX	C1854301	Motor delay	0.2	0	0	HPO
1641	DCX	C1858430	Death in infancy	0.2	0	0	HPO
1641	DCX	C1859778	Postnatal growth retardation	0.2	0	0	HPO
1641	DCX	C1879312	Agyria	0.200549453568426	0	0	HPO
1641	DCX	C1955870	Classical Lissencephalies and Subcortical Band Heterotopias	0.202681755307501	0	0	CTD_human
1641	DCX	C3714756	Intellectual Disability	0.203831819601666	0	0	HPO
1641	DCX	C4020874	No development of motor milestones	0.2	0	0	HPO
1641	DCX	C4020876	Dull intelligence	0.2	0	0	HPO
1642	DDB1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1643	DDB2	C0003862	Arthralgia	0.2	0	0	HPO
1643	DDB2	C0007117	Basal cell carcinoma	0.2	0	0	HPO
1643	DDB2	C0009763	Conjunctivitis	0.2	0	0	HPO
1643	DDB2	C0010417	Cryptorchidism	0.2	0	0	HPO
1643	DDB2	C0013592	Ectropion	0.2	0	0	HPO
1643	DDB2	C0014390	Entropion	0.2	0	0	HPO
1643	DDB2	C0015672	Fatigue	0.2	0	0	HPO
1643	DDB2	C0015967	Fever	0.2	0	0	HPO
1643	DDB2	C0016382	Flushing	0.2	0	0	HPO
1643	DDB2	C0016689	Freckles	0.2	0	0	HPO
1643	DDB2	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1643	DDB2	C0020619	Hypogonadism	0.2	0	0	HPO
1643	DDB2	C0022568	Keratitis	0.2	0	0	HPO
1643	DDB2	C0025202	melanoma	0.200274726784213	0	0	HPO
1643	DDB2	C0029124	Optic Atrophy	0.2	0	0	HPO
1643	DDB2	C0030354	Papilloma	0.2	0	0	HPO
1643	DDB2	C0038379	Strabismus	0.2	0	0	HPO
1643	DDB2	C0039446	Telangiectasis	0.2	0	0	HPO
1643	DDB2	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1643	DDB2	C0041834	Erythema	0.2	0	0	HPO
1643	DDB2	C0043346	Xeroderma Pigmentosum	0.204930726738519	0	0	ORPHANET
1643	DDB2	C0085636	Photophobia	0.2	0	0	HPO
1643	DDB2	C0086543	Cataract	0.2	0	0	HPO
1643	DDB2	C0151514	Atrophic condition of skin	0.2	0	0	HPO
1643	DDB2	C0151611	Electroencephalogram abnormal	0.2	0	0	HPO
1643	DDB2	C0151908	Dry skin	0.2	0	0	HPO
1643	DDB2	C0231246	Failure to gain weight	0.2	0	0	HPO
1643	DDB2	C0239105	Conjunctival telangiectasis	0.2	0	0	HPO
1643	DDB2	C0259817	Xerosis	0.2	0	0	HPO
1643	DDB2	C0262444	Dental abnormalities	0.2	0	0	HPO
1643	DDB2	C0338656	Impaired cognition	0.2	0	0	HPO
1643	DDB2	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1643	DDB2	C0392777	Poikiloderma	0.2	0	0	HPO
1643	DDB2	C0423757	Thin skin	0.2	0	0	HPO
1643	DDB2	C0553723	Squamous cell carcinoma of skin	0.2	0	0	HPO
1643	DDB2	C0683322	Mental impairment	0.2	0	0	HPO
1643	DDB2	C0870082	Hyperkeratosis	0.2	0	0	HPO
1643	DDB2	C1138421	Spider Veins	0.2	0	0	HPO
1643	DDB2	C1510497	Lens Opacities	0.2	0	0	HPO
1643	DDB2	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1643	DDB2	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1643	DDB2	C1836830	Developmental regression	0.2	0	0	HPO
1643	DDB2	C1842774	Hyperpigmented macules	0.2	0	0	HPO
1643	DDB2	C1846149	Progressive mental retardation	0.2	0	0	HPO
1643	DDB2	C1848411	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	0.483296721410557	2	4	CTD_human;UNIPROT
1643	DDB2	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1643	DDB2	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1643	DDB2	C1855019	Psychomotor regression	0.2	0	0	HPO
1643	DDB2	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1643	DDB2	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1643	DDB2	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1643	DDB2	C1862314	Basal cell nevi	0.2	0	0	HPO
1643	DDB2	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
1643	DDB2	C1968564	Defective DNA repair after ultraviolet radiation damage	0.2	0	0	HPO
1643	DDB2	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1643	DDB2	C4020887	Photodysphoria	0.2	0	0	HPO
1643	DDB2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1643	DDB2	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
164395	TTLL9	C0023903	Liver neoplasms	0.2	1	0	CTD_human
164395	TTLL9	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
164395	TTLL9	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
1644	DDC	C0004936	Mental disorders	0.2	1	0	CTD_human
1644	DDC	C0005586	Bipolar Disorder	0.20350593566014	3	0	PSYGENET
1644	DDC	C0005745	Blepharoptosis	0.2	0	0	HPO
1644	DDC	C0009806	Constipation	0.2	0	0	HPO
1644	DDC	C0011991	Diarrhea	0.2	0	0	HPO
1644	DDC	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1644	DDC	C0018834	Heartburn	0.2	0	0	HPO
1644	DDC	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
1644	DDC	C0020649	Hypotension	0.2	0	0	HPO
1644	DDC	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1644	DDC	C0026205	Miosis disorder	0.2	0	0	HPO
1644	DDC	C0027066	Myoclonus	0.2	0	0	HPO
1644	DDC	C0027746	Nerve Degeneration	0.2	1	0	CTD_human
1644	DDC	C0030567	Parkinson Disease	0.20357144819477	2	0	CTD_human
1644	DDC	C0031511	Pheochromocytoma	0.200274726784213	1	0	CTD_human
1644	DDC	C0033975	Psychotic Disorders	0.200274726784213	1	0	PSYGENET
1644	DDC	C0034935	Babinski Reflex	0.2	0	0	HPO
1644	DDC	C0036341	Schizophrenia	0.206187690967642	4	0	PSYGENET
1644	DDC	C0036349	Paranoid Schizophrenia	0.203007639249027	1	0	PSYGENET
1644	DDC	C0037317	Sleep disturbances	0.2	0	0	HPO
1644	DDC	C0038990	Sweating	0.2	0	0	HPO
1644	DDC	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
1644	DDC	C0085583	Choreoathetosis	0.2	0	0	HPO
1644	DDC	C0085633	Mood swings	0.400274726784213	1	0	HPO;PSYGENET
1644	DDC	C0151889	Hyperreflexia	0.2	0	0	HPO
1644	DDC	C0234967	Choreoathetoid movements	0.2	0	0	HPO
1644	DDC	C0237326	Dyschezia	0.2	0	0	HPO
1644	DDC	C0242422	Parkinsonian Disorders	0.2	1	0	CTD_human
1644	DDC	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1644	DDC	C0342686	Aromatic amino acid decarboxylase deficiency	0.200549453568426	0	0	CTD_human
1644	DDC	C0557874	Global developmental delay	0.2	0	0	HPO
1644	DDC	C0700590	Increased sweating	0.2	0	0	HPO
1644	DDC	C0751093	Dystonia, Limb	0.2	0	0	HPO
1644	DDC	C1269683	Major Depressive Disorder	0.2	1	0	PSYGENET
1644	DDC	C1290857	Disorder of face	0.2	0	0	HPO
1644	DDC	C1291564	Deficiency of aromatic-L-amino-acid decarboxylase	0.48	2	8	ORPHANET;UNIPROT
1644	DDC	C1820737	Temperature instability	0.2	0	0	HPO
1644	DDC	C1837639	Intermittent hypothermia	0.2	0	0	HPO
1644	DDC	C1838391	Limb hypertonia	0.2	0	0	HPO
1644	DDC	C1839839	MAJOR AFFECTIVE DISORDER 2	0.203231208875927	2	0	PSYGENET
1644	DDC	C1848924	Infantile onset	0.2	0	0	HPO
1644	DDC	C1853743	Axial hypotonia	0.2	0	0	HPO
1644	DDC	C1864897	Cognitive delay	0.2	0	0	HPO
1644	DDC	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1644	DDC	C2700617	Irritation - emotion	0.2	0	0	HPO
1644	DDC	C3279038	Body temperature instability	0.2	0	0	HPO
1644	DDC	C4020875	Mental and motor retardation	0.2	0	0	HPO
1644	DDC	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1644	DDC	C4025871	Abnormality of the face	0.2	0	0	HPO
1644	DDC	C4280803	Decreased CSF homovanillic acid	0.2	0	0	HPO
1645	AKR1C1	C0007131	Non-Small Cell Lung Carcinoma	0.200274726784213	1	0	CTD_human
1645	AKR1C1	C0007621	Neoplastic Cell Transformation	0.2	1	0	CTD_human
1645	AKR1C1	C0014170	Endometrial Neoplasms	0.202732912464814	1	0	CTD_human
1645	AKR1C1	C0014175	Endometriosis	0.200274726784213	1	0	CTD_human
1645	AKR1C1	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1645	AKR1C1	C0027661	Neoplasms, Hormone-Dependent	0.2	1	0	CTD_human
1645	AKR1C1	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1645	AKR1C1	C0032460	Polycystic Ovary Syndrome	0.200549453568426	1	0	CTD_human
1645	AKR1C1	C0036875	Disorders of Sex Development	0.2	1	0	CTD_human
1646	AKR1C2	C0007621	Neoplastic Cell Transformation	0.2	1	0	CTD_human
1646	AKR1C2	C0010417	Cryptorchidism	0.2	0	0	HPO
1646	AKR1C2	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1646	AKR1C2	C0014175	Endometriosis	0.200274726784213	1	0	CTD_human
1646	AKR1C2	C0027661	Neoplasms, Hormone-Dependent	0.2	1	0	CTD_human
1646	AKR1C2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1646	AKR1C2	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1646	AKR1C2	C0036875	Disorders of Sex Development	0.2	1	0	CTD_human
1646	AKR1C2	C0043094	Weight Gain	0.2	1	0	CTD_human
1646	AKR1C2	C0238395	Male Pseudohermaphroditism	0.2	0	0	HPO
1646	AKR1C2	C0266362	Ambiguous Genitalia	0.2	0	0	HPO
1646	AKR1C2	C1839840	MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE	0.4	1	3	ORPHANET;UNIPROT
1646	AKR1C2	C2239176	Liver carcinoma	0.2	1	0	CTD_human
1646	AKR1C2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1646	AKR1C2	C4022995	Sex reversal	0.2	0	0	HPO
164656	TMPRSS6	C0085576	Iron-Refractory Iron Deficiency Anemia	0.607417623173754	7	22	CTD_human;ORPHANET;UNIPROT
164656	TMPRSS6	C0162316	Iron deficiency anemia	0.203021994626344	2	0	CTD_human
1647	GADD45A	C0019693	HIV Infections	0.2	1	0	CTD_human
1647	GADD45A	C0030297	Pancreatic Neoplasm	0.208198737394441	1	0	CTD_human
1647	GADD45A	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1647	GADD45A	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1647	GADD45A	C0263454	Chloracne	0.2	1	0	CTD_human
1647	GADD45A	C0919267	ovarian neoplasm	0.205465824929628	1	0	CTD_human
1647	GADD45A	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1647	GADD45A	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1649	DDIT3	C0003949	Asbestosis	0.2	1	0	CTD_human
1649	DDIT3	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1649	DDIT3	C0011854	Diabetes Mellitus, Insulin-Dependent	0.200274726784213	1	0	CTD_human
1649	DDIT3	C0021831	Intestinal Diseases	0.2	1	0	CTD_human
1649	DDIT3	C0027051	Myocardial Infarction	0.2	1	0	CTD_human
1649	DDIT3	C0027720	Nephrosis	0.2	1	0	CTD_human
1649	DDIT3	C0028754	Obesity	0.200549453568426	1	0	CTD_human
1649	DDIT3	C0028840	Ocular Hypertension	0.200274726784213	1	0	CTD_human
1649	DDIT3	C0041582	Ulcer	0.2	1	0	CTD_human
1649	DDIT3	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1649	DDIT3	C0206634	Liposarcoma, Myxoid	0.61593415348436	3	0	CTD_human;HPO;ORPHANET
1649	DDIT3	C0544886	Somatic mutation	0.2	0	0	HPO
1649	DDIT3	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1649	DDIT3	C1458155	Mammary Neoplasms	0.200274726784213	1	0	CTD_human
1649	DDIT3	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1650	DDOST	C0009806	Constipation	0.2	0	0	HPO
1650	DDOST	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1650	DDOST	C0018834	Heartburn	0.2	0	0	HPO
1650	DDOST	C0026827	Muscle hypotonia	0.2	0	0	HPO
1650	DDOST	C0038379	Strabismus	0.2	0	0	HPO
1650	DDOST	C0086565	Liver Dysfunction	0.2	0	0	HPO
1650	DDOST	C0231246	Failure to gain weight	0.2	0	0	HPO
1650	DDOST	C0232744	Decreased liver function	0.2	0	0	HPO
1650	DDOST	C0237326	Dyschezia	0.2	0	0	HPO
1650	DDOST	C0557874	Global developmental delay	0.2	0	0	HPO
1650	DDOST	C1837899	Isoelectric focusing of serum transferrin consistent with CDG type I	0.2	0	0	HPO
1650	DDOST	C1848924	Infantile onset	0.2	0	0	HPO
1650	DDOST	C1864897	Cognitive delay	0.2	0	0	HPO
1650	DDOST	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1650	DDOST	C3279149	Liver dysfunction, mild	0.2	0	0	HPO
1650	DDOST	C3281084	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir	0.4	1	2	ORPHANET;UNIPROT
1650	DDOST	C4020875	Mental and motor retardation	0.2	0	0	HPO
1650	DDOST	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1653	DDX1	C0014173	Endometrial Hyperplasia	0.2	1	0	CTD_human
1653	DDX1	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1654	DDX3X	C0025362	Mental Retardation	0.2	0	0	HPO
1654	DDX3X	C0026827	Muscle hypotonia	0.2	0	0	HPO
1654	DDX3X	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1654	DDX3X	C0079772	T-Cell Lymphoma	0.200274726784213	1	0	CTD_human
1654	DDX3X	C0345967	Malignant mesothelioma	0.2	1	0	CTD_human
1654	DDX3X	C0423903	Low intelligence	0.2	0	0	HPO
1654	DDX3X	C0917816	Mental deficiency	0.2	0	0	HPO
1654	DDX3X	C1843367	Poor school performance	0.2	0	0	HPO
1654	DDX3X	C1845977	X- linked recessive	0.2	0	0	HPO
1654	DDX3X	C1847879	X-linked dominant	0.2	0	0	HPO
1654	DDX3X	C1848924	Infantile onset	0.2	0	0	HPO
1654	DDX3X	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1654	DDX3X	C4020876	Dull intelligence	0.2	0	0	HPO
1654	DDX3X	C4085582	MENTAL RETARDATION, X-LINKED 102	0.4	1	16	ORPHANET;UNIPROT
1655	DDX5	C0014175	Endometriosis	0.2	1	0	CTD_human
1656	DDX6	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
1657	DMXL1	C0017638	Glioma	0.2	1	0	CTD_human
165918	RNF168	C2677792	Riddle Syndrome	0.480824180352639	0	0	CTD_human;ORPHANET
166	AES	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1663	DDX11	C0011053	Deafness	0.2	0	0	HPO
1663	DDX11	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1663	DDX11	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1663	DDX11	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1663	DDX11	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1663	DDX11	C0024433	Macrostomia	0.2	0	0	HPO
1663	DDX11	C0025362	Mental Retardation	0.2	0	0	HPO
1663	DDX11	C0026827	Muscle hypotonia	0.2	0	0	HPO
1663	DDX11	C0155299	Coloboma of optic disc	0.2	0	0	HPO
1663	DDX11	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1663	DDX11	C0263401	Cutis marmorata	0.2	0	0	HPO
1663	DDX11	C0339789	Congenital deafness	0.2	0	0	HPO
1663	DDX11	C0376628	Chromosome Breakage	0.2	1	0	CTD_human
1663	DDX11	C0423903	Low intelligence	0.2	0	0	HPO
1663	DDX11	C0424688	Small head	0.2	0	0	HPO
1663	DDX11	C0424731	Single transverse palmar crease	0.2	0	0	HPO
1663	DDX11	C0432040	Simple syndactyly of toes, first web space	0.2	0	0	HPO
1663	DDX11	C0557874	Global developmental delay	0.2	0	0	HPO
1663	DDX11	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1663	DDX11	C0917816	Mental deficiency	0.2	0	0	HPO
1663	DDX11	C1384666	hearing impairment	0.2	0	0	HPO
1663	DDX11	C1386048	Intrauterine retardation	0.2	0	0	HPO
1663	DDX11	C1843367	Poor school performance	0.2	0	0	HPO
1663	DDX11	C1845447	Cupped ears (finding)	0.2	0	0	HPO
1663	DDX11	C1855538	Small face	0.2	0	0	HPO
1663	DDX11	C1857679	Sloping forehead	0.2	0	0	HPO
1663	DDX11	C1864897	Cognitive delay	0.2	0	0	HPO
1663	DDX11	C2676974	Hypoplastic cochlea	0.2	0	0	HPO
1663	DDX11	C3150658	WARSAW BREAKAGE SYNDROME	0.601923087489492	1	3	CTD_human;ORPHANET;UNIPROT
1663	DDX11	C3714756	Intellectual Disability	0.2	0	0	HPO
1663	DDX11	C4020875	Mental and motor retardation	0.2	0	0	HPO
1663	DDX11	C4020876	Dull intelligence	0.2	0	0	HPO
1663	DDX11	C4020892	Capuchin ears	0.2	0	0	HPO
1663	DDX11	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
166336	PRICKLE2	C0023903	Liver neoplasms	0.2	1	0	CTD_human
166336	PRICKLE2	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
166378	SPATA5	C0036341	Schizophrenia	0.2	1	0	CTD_human
166378	SPATA5	C4225276	EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME	0.4	1	11	ORPHANET;UNIPROT
1665	DHX15	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
1666	DECR1	C0009171	Cocaine Abuse	0.2	1	0	PSYGENET
1666	DECR1	C0023772	Lipid Metabolism, Inborn Errors	0.2	1	0	CTD_human
1666	DECR1	C1857252	2,4-Dienoyl-CoA Reductase Deficiency	0.2	1	0	CTD_human
166752	FREM3	C0041696	Unipolar Depression	0.200274726784213	1	0	PSYGENET
166752	FREM3	C1269683	Major Depressive Disorder	0.400274726784213	2	0	CTD_human;PSYGENET
1670	DEFA5	C0009324	Ulcerative Colitis	0.200274726784213	1	0	CTD_human
1670	DEFA5	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1670	DEFA5	C0017661	IGA Glomerulonephritis	0.2	2	0	CTD_human
1670	DEFA5	C0021390	Inflammatory Bowel Diseases	0.205414667772315	1	0	CTD_human
1670	DEFA5	C0031269	Peutz-Jeghers Syndrome	0.2	1	0	CTD_human
1670	DEFA5	C0206677	Adenomatous Polyps	0.2	1	0	CTD_human
1671	DEFA6	C0009324	Ulcerative Colitis	0.2	1	0	CTD_human
1674	DES	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1674	DES	C0004238	Atrial Fibrillation	0.2	1	0	CTD_human
1674	DES	C0007193	Cardiomyopathy, Dilated	0.216858969420001	0	0	HPO
1674	DES	C0007194	Hypertrophic Cardiomyopathy	0.205363510615002	0	0	HPO
1674	DES	C0009081	Congenital clubfoot	0.2	0	0	HPO
1674	DES	C0009806	Constipation	0.2	0	0	HPO
1674	DES	C0011991	Diarrhea	0.2	0	0	HPO
1674	DES	C0017658	Glomerulonephritis	0.2	1	0	CTD_human
1674	DES	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1674	DES	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1674	DES	C0026850	Muscular Dystrophy	0.200824180352639	0	0	HPO
1674	DES	C0027720	Nephrosis	0.2	1	0	CTD_human
1674	DES	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1674	DES	C0085684	Foot-drop	0.2	0	0	HPO
1674	DES	C0237326	Dyschezia	0.2	0	0	HPO
1674	DES	C0240479	Neck muscle weakness	0.2	0	0	HPO
1674	DES	C0240953	Winged scapula	0.2	0	0	HPO
1674	DES	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1674	DES	C0376175	Bell Palsy	0.2	0	0	HPO
1674	DES	C0409338	Flexion contracture - elbow	0.2	0	0	HPO
1674	DES	C0427055	Facial Paresis	0.2	0	0	HPO
1674	DES	C0427065	Distal muscle weakness	0.2	0	0	HPO
1674	DES	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1674	DES	C0598608	Hyperhomocysteinemia	0.2	1	0	CTD_human
1674	DES	C0855329	Electrocardiogram change	0.2	0	0	HPO
1674	DES	C1301959	Bulbar weakness	0.2	0	0	HPO
1674	DES	C1389118	Peroneal muscle atrophy	0.2	0	0	HPO
1674	DES	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1674	DES	C1832370	MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	0.683846174978983	18	38	CTD_human;ORPHANET;UNIPROT
1674	DES	C1832374	Restrictive heart failure	0.2	0	0	HPO
1674	DES	C1832603	EKG abnormalities	0.2	0	0	HPO
1674	DES	C1834696	Hyporeflexia of lower limbs	0.2	0	0	HPO
1674	DES	C1837514	Phenotypic variability	0.2	0	0	HPO
1674	DES	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1674	DES	C1842161	Scapuloperoneal weakness	0.2	0	0	HPO
1674	DES	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1674	DES	C1847766	Shoulder girdle muscle atrophy	0.2	0	0	HPO
1674	DES	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1674	DES	C1858154	CARDIOMYOPATHY, DILATED, 1I	0.48	5	3	CTD_human;UNIPROT
1674	DES	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1674	DES	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1674	DES	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
1674	DES	C1864985	Progressive disorder	0.2	0	0	HPO
1674	DES	C1866141	Foot dorsiflexor weakness	0.2	0	0	HPO
1674	DES	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1674	DES	C1867005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	0.6	3	1	CTD_human;ORPHANET;UNIPROT
1674	DES	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
1674	DES	C3806467	Respiratory insufficiency due to muscle weakness	0.2	0	0	HPO
1674	DES	C3809137	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R	0.2	0	0	ORPHANET
1674	DES	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
1674	DES	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1674	DES	C4021726	EMG: myopathic abnormalities	0.2	0	0	HPO
1674	DES	C4025008	Reduced systolic function	0.2	0	0	HPO
1674	DES	C4025578	Late-onset proximal muscle weakness	0.2	0	0	HPO
1674	DES	C4072849	Scapular weakness	0.2	0	0	HPO
1674	DES	C4082299	Bulbar palsy	0.2	0	0	HPO
167465	ZNF366	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
167465	ZNF366	C1458155	Mammary Neoplasms	0.28	1	0	CTD_human
1675	CFD	C0003949	Asbestosis	0.2	1	0	CTD_human
1675	CFD	C0014175	Endometriosis	0.2	1	0	CTD_human
1675	CFD	C0017658	Glomerulonephritis	0.2	1	0	CTD_human
1675	CFD	C0018801	Heart failure	0.2	1	0	CTD_human
1675	CFD	C0021051	Immunologic Deficiency Syndromes	0.2	2	0	CTD_human
1675	CFD	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1675	CFD	C0025303	Meningococcal Infections	0.200274726784213	1	0	CTD_human
1675	CFD	C0029927	Ovarian Cysts	0.2	1	0	CTD_human
1675	CFD	C0032285	Pneumonia	0.2	1	0	CTD_human
1675	CFD	C0034069	Pulmonary Fibrosis	0.2	1	0	CTD_human
1675	CFD	C0085396	Neisseriaceae Infections	0.2	1	0	CTD_human
1675	CFD	C0272242	Complement deficiency disease	0.2	0	0	HPO
1675	CFD	C0398764	Complement Factor D Deficiency	0.4	1	3	ORPHANET;UNIPROT
1675	CFD	C1844383	Recurrent bacterial infection	0.2	0	0	HPO
1675	CFD	C1861403	Variable expressivity	0.2	0	0	HPO
1675	CFD	C1866862	Highly variable severity	0.2	0	0	HPO
1675	CFD	C2748958	Increased susceptibility to bacterial infections	0.2	0	0	HPO
1675	CFD	C4020846	Prone to bacterial infection	0.2	0	0	HPO
1675	CFD	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1678	TIMM8A	C0011168	Deglutition Disorders	0.2	0	0	HPO
1678	TIMM8A	C0013362	Dysarthria	0.2	0	0	HPO
1678	TIMM8A	C0013421	Dystonia	0.204381273170092	0	0	HPO
1678	TIMM8A	C0026838	Muscle Spasticity	0.200274726784213	0	0	HPO
1678	TIMM8A	C0027092	Myopia	0.2	0	0	HPO
1678	TIMM8A	C0029124	Optic Atrophy	0.2	0	0	HPO
1678	TIMM8A	C0040822	Tremor	0.2	0	0	HPO
1678	TIMM8A	C0042798	Low Vision	0.2	0	0	HPO
1678	TIMM8A	C0085636	Photophobia	0.2	0	0	HPO
1678	TIMM8A	C0151889	Hyperreflexia	0.2	0	0	HPO
1678	TIMM8A	C0155320	Blindness, Cortical	0.200274726784213	0	0	HPO
1678	TIMM8A	C0231471	Abnormal posture	0.2	0	0	HPO
1678	TIMM8A	C0234632	Reduced visual acuity	0.2	0	0	HPO
1678	TIMM8A	C0234985	Mental deterioration	0.2	0	0	HPO
1678	TIMM8A	C0235095	Visual field constriction	0.2	0	0	HPO
1678	TIMM8A	C0270685	Cerebral calcification	0.2	0	0	HPO
1678	TIMM8A	C0271215	Blindness, Legal	0.2	0	0	HPO
1678	TIMM8A	C0456909	Blind Vision	0.2	0	0	HPO
1678	TIMM8A	C0476397	Electroretinogram abnormal	0.2	0	0	HPO
1678	TIMM8A	C0497327	Dementia	0.2	0	0	HPO
1678	TIMM8A	C0796074	MOHR-TRANEBJAERG SYNDROME	0.605494535684262	2	9	CTD_human;ORPHANET;UNIPROT
1678	TIMM8A	C1389113	Generalized amyotrophy	0.2	0	0	HPO
1678	TIMM8A	C1390474	Increased susceptibility to fractures	0.2	0	0	HPO
1678	TIMM8A	C1837352	Childhood onset	0.2	0	0	HPO
1678	TIMM8A	C1839564	Jensen syndrome	0.200274726784213	1	0	CTD_human
1678	TIMM8A	C1843156	Hearing loss, progressive sensorineural	0.2	0	0	HPO
1678	TIMM8A	C1845977	X- linked recessive	0.2	0	0	HPO
1678	TIMM8A	C3665347	Visual Impairment	0.2	0	0	HPO
1678	TIMM8A	C4020871	Dystonic disease	0.2	0	0	HPO
1678	TIMM8A	C4020887	Photodysphoria	0.2	0	0	HPO
1678	TIMM8A	C4021535	Infantile sensorineural hearing impairment	0.2	0	0	HPO
1678	TIMM8A	C4024654	Postlingual sensorineural hearing impairment	0.2	0	0	HPO
1678	TIMM8A	C4048268	Cortical visual impairment	0.2	0	0	HPO
168507	PKD1L1	C0266642	Situs ambiguus	0.2	0	0	ORPHANET
168507	PKD1L1	C1167664	Situs ambiguous	0.2	0	0	ORPHANET
168667	BMPER	C0027412	Opioid-Related Disorders	0.2	1	0	CTD_human
168667	BMPER	C1842691	Diaphanospondylodysostosis	0.400824180352639	1	3	ORPHANET;UNIPROT
168667	BMPER	C4274732	Ischio-vertebral syndrome	0.2	0	0	ORPHANET
1690	COCH	C0012833	Dizziness	0.2	0	0	HPO
1690	COCH	C0040264	Tinnitus	0.2	0	0	HPO
1690	COCH	C0042571	Vertigo	0.200274726784213	0	0	HPO
1690	COCH	C1832425	Deafness, Autosomal Dominant 9	0.481648360705279	8	9	CTD_human;UNIPROT
1690	COCH	C1849095	Cochlear degeneration	0.2	0	0	HPO
1690	COCH	C1864985	Progressive disorder	0.2	0	0	HPO
1690	COCH	C3554568	Young adult onset	0.2	0	0	HPO
1690	COCH	C4021431	Abnormality of the vestibulocochlear nerve	0.2	0	0	HPO
1690	COCH	C4024654	Postlingual sensorineural hearing impairment	0.2	0	0	HPO
169026	SLC30A8	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.301703415952835	6	2	CTD_human
169026	SLC30A8	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
169044	COL22A1	C0149925	Small cell carcinoma of lung	0.2	1	0	CTD_human
169166	SNX31	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
169522	KCNV2	C1835897	Retinal Cone Dystrophy 3B	0.600274726784213	1	10	CTD_human;ORPHANET;UNIPROT
169792	GLIS3	C0011854	Diabetes Mellitus, Insulin-Dependent	0.202681755307501	1	2	CTD_human
169792	GLIS3	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.201923087489492	1	3	CTD_human
169792	GLIS3	C0017605	Angle Closure Glaucoma	0.2	1	0	CTD_human
169792	GLIS3	C1857775	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	0.48	0	0	CTD_human;ORPHANET
170302	ARX	C0037769	West Syndrome	0.226533655050133	0	0	ORPHANET
170302	ARX	C0393706	Early infantile epileptic encephalopathy with suppression bursts	0.201923087489492	0	0	ORPHANET
170302	ARX	C0796124	Proud Syndrome	0.6	1	2	CTD_human;ORPHANET;UNIPROT
170302	ARX	C0796244	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)	0.4	1	4	CTD_human;UNIPROT
170302	ARX	C0796250	PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	0.401098907136852	0	0	CTD_human;ORPHANET
170302	ARX	C1846171	Lissencephaly, X-Linked, 2	0.681373633921066	2	26	CTD_human;ORPHANET;UNIPROT
170302	ARX	C3463992	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	0.68	1	8	CTD_human;ORPHANET;UNIPROT
170394	PWWP2B	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
170572	HTR3C	C0004352	Autistic Disorder	0.202681755307501	1	0	CTD_human
170679	PSORS1C1	C0004943	Behcet Syndrome	0.2	1	1	CTD_human
170679	PSORS1C1	C0036421	Systemic Scleroderma	0.200549453568426	1	1	CTD_human
170691	ADAMTS17	C0023903	Liver neoplasms	0.2	1	0	CTD_human
170691	ADAMTS17	C2750787	Weill-Marchesani-Like Syndrome	0.400549453568426	0	0	CTD_human;ORPHANET
170825	GSX2	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	0.2	1	0	CTD_human
170954	PPP1R18	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
171023	ASXL1	C0023487	Acute Promyelocytic Leukemia	0.201098907136852	1	0	CTD_human
171023	ASXL1	C0027643	Neoplasm Recurrence, Local	0.2	1	0	CTD_human
171023	ASXL1	C0349639	Juvenile Myelomonocytic Leukemia	0.201098907136852	1	0	CTD_human
171023	ASXL1	C0796232	Bohring syndrome	0.401923087489492	1	5	CTD_human;ORPHANET
171024	SYNPO2	C0677886	Epithelial ovarian cancer	0.200274726784213	1	0	CTD_human
171558	PTCRA	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1716	DGUOK	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1716	DGUOK	C0003962	Ascites	0.2	0	0	HPO
1716	DGUOK	C0014544	Epilepsy	0.2	0	0	HPO
1716	DGUOK	C0019209	Hepatomegaly	0.2	0	0	HPO
1716	DGUOK	C0020541	Hypertension, Portal	0.2	0	0	HPO
1716	DGUOK	C0020615	Hypoglycemia	0.2	0	0	HPO
1716	DGUOK	C0020672	Hypothermia, natural	0.2	0	0	HPO
1716	DGUOK	C0022346	Icterus	0.2	0	0	HPO
1716	DGUOK	C0026827	Muscle hypotonia	0.2	0	0	HPO
1716	DGUOK	C0028738	Nystagmus	0.2	0	0	HPO
1716	DGUOK	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1716	DGUOK	C0036572	Seizures	0.2	0	0	HPO
1716	DGUOK	C0038002	Splenomegaly	0.2	0	0	HPO
1716	DGUOK	C0040034	Thrombocytopenia	0.2	0	0	HPO
1716	DGUOK	C0042963	Vomiting	0.2	0	0	HPO
1716	DGUOK	C0085584	Encephalopathies	0.200274726784213	0	0	HPO
1716	DGUOK	C0085605	Liver Failure	0.201648360705279	0	0	HPO
1716	DGUOK	C0086565	Liver Dysfunction	0.2	0	0	HPO
1716	DGUOK	C0151686	Growth retardation	0.2	0	0	HPO
1716	DGUOK	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1716	DGUOK	C0151889	Hyperreflexia	0.2	0	0	HPO
1716	DGUOK	C0152025	Polyneuropathy	0.2	0	0	HPO
1716	DGUOK	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1716	DGUOK	C0231246	Failure to gain weight	0.2	0	0	HPO
1716	DGUOK	C0235946	Cerebral atrophy	0.2	0	0	HPO
1716	DGUOK	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1716	DGUOK	C0239981	Hypoalbuminemia	0.2	0	0	HPO
1716	DGUOK	C0267812	Micronodular cirrhosis	0.2	0	0	HPO
1716	DGUOK	C0311468	Increased bilirubin level (finding)	0.2	0	0	HPO
1716	DGUOK	C0347959	Lactic acidemia	0.2	0	0	HPO
1716	DGUOK	C0392386	Decreased platelet count	0.2	0	0	HPO
1716	DGUOK	C0424688	Small head	0.2	0	0	HPO
1716	DGUOK	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1716	DGUOK	C0438717	Transaminases increased	0.2	0	0	HPO
1716	DGUOK	C0456070	Growth delay	0.2	0	0	HPO
1716	DGUOK	C0877359	Liver function test increased	0.2	0	0	HPO
1716	DGUOK	C0878787	Growth failure	0.2	0	0	HPO
1716	DGUOK	C1835995	Decreased activities of mitochondrial-encoded respiratory chain complexes	0.2	0	0	HPO
1716	DGUOK	C1837385	Poor growth	0.2	0	0	HPO
1716	DGUOK	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1716	DGUOK	C1845274	Disconjugate eye movements	0.2	0	0	HPO
1716	DGUOK	C1847868	Generalized aminoaciduria	0.2	0	0	HPO
1716	DGUOK	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1716	DGUOK	C1849766	Periportal fibrosis	0.2	0	0	HPO
1716	DGUOK	C1855038	Hepatocellular necrosis	0.2	0	0	HPO
1716	DGUOK	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1716	DGUOK	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1716	DGUOK	C2711227	Steatohepatitis	0.2	0	0	HPO
1716	DGUOK	C3151513	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	0.6	2	11	CTD_human;ORPHANET;UNIPROT
1716	DGUOK	C3276441	Decreased activity of mitochondrial respiratory complexes	0.2	0	0	HPO
1716	DGUOK	C3552463	Very poor growth	0.2	0	0	HPO
1716	DGUOK	C3711385	Deoxyguanosine Kinase Deficiency	0.200824180352639	1	0	CTD_human
1716	DGUOK	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1716	DGUOK	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1716	DGUOK	C4024609	Decreased activity of mitochondrial respiratory chain	0.2	0	0	HPO
1716	DGUOK	C4025018	Depletion of mitochondrial DNA in liver	0.2	0	0	HPO
1717	DHCR7	C0001807	Aggressive behavior	0.2	0	0	HPO
1717	DHCR7	C0003492	Aortic coarctation	0.2	0	0	HPO
1717	DHCR7	C0004352	Autistic Disorder	0.402407028523288	1	0	CTD_human;HPO
1717	DHCR7	C0005745	Blepharoptosis	0.2	0	0	HPO
1717	DHCR7	C0005944	Metabolic Bone Disorder	0.2	1	0	CTD_human
1717	DHCR7	C0006157	Breech Presentation	0.2	0	0	HPO
1717	DHCR7	C0008925	Cleft Palate	0.2	0	0	HPO
1717	DHCR7	C0009806	Constipation	0.2	0	0	HPO
1717	DHCR7	C0010417	Cryptorchidism	0.2	0	0	HPO
1717	DHCR7	C0010964	Dandy-Walker Syndrome	0.2	0	0	HPO
1717	DHCR7	C0011053	Deafness	0.2	0	0	HPO
1717	DHCR7	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
1717	DHCR7	C0013595	Eczema	0.2	0	0	HPO
1717	DHCR7	C0014116	Endocardial Cushion Defects	0.2	0	0	HPO
1717	DHCR7	C0014544	Epilepsy	0.2	0	0	HPO
1717	DHCR7	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1717	DHCR7	C0017168	Gastroesophageal reflux disease	0.2	0	0	HPO
1717	DHCR7	C0017566	Gingival Hyperplasia	0.2	0	0	HPO
1717	DHCR7	C0017567	Gingival Hypertrophy	0.2	0	0	HPO
1717	DHCR7	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1717	DHCR7	C0018817	Atrial Septal Defects	0.2	0	0	HPO
1717	DHCR7	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1717	DHCR7	C0018834	Heartburn	0.2	0	0	HPO
1717	DHCR7	C0019569	Hirschsprung Disease	0.2	0	0	HPO
1717	DHCR7	C0020224	Polyhydramnios	0.2	0	0	HPO
1717	DHCR7	C0020255	Hydrocephalus	0.2	0	0	HPO
1717	DHCR7	C0020295	Hydronephrosis	0.2	0	0	HPO
1717	DHCR7	C0020534	Orbital separation excessive	0.2	0	0	HPO
1717	DHCR7	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1717	DHCR7	C0022679	Cystic kidney	0.2	0	0	HPO
1717	DHCR7	C0023890	Liver Cirrhosis	0.2	1	0	CTD_human
1717	DHCR7	C0024433	Macrostomia	0.2	0	0	HPO
1717	DHCR7	C0025160	Megacolon	0.2	0	0	HPO
1717	DHCR7	C0025362	Mental Retardation	0.200824180352639	0	0	HPO
1717	DHCR7	C0025988	Microglossia	0.2	0	0	HPO
1717	DHCR7	C0025990	Micrognathism	0.2	0	0	HPO
1717	DHCR7	C0025995	Micromelia	0.2	0	0	HPO
1717	DHCR7	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1717	DHCR7	C0026827	Muscle hypotonia	0.2	0	0	HPO
1717	DHCR7	C0028738	Nystagmus	0.2	0	0	HPO
1717	DHCR7	C0034013	Precocious Puberty	0.2	0	0	HPO
1717	DHCR7	C0034194	Pyloric Stenosis	0.2	0	0	HPO
1717	DHCR7	C0036572	Seizures	0.2	0	0	HPO
1717	DHCR7	C0036601	Self Mutilation	0.2	0	0	HPO
1717	DHCR7	C0038379	Strabismus	0.2	0	0	HPO
1717	DHCR7	C0040427	Tooth Abnormalities	0.2	0	0	HPO
1717	DHCR7	C0040433	Tooth Crowding	0.2	0	0	HPO
1717	DHCR7	C0040583	Tracheal Stenosis	0.2	0	0	HPO
1717	DHCR7	C0042963	Vomiting	0.2	0	0	HPO
1717	DHCR7	C0079541	Holoprosencephaly	0.200824180352639	0	0	HPO
1717	DHCR7	C0085271	Self-Injurious Behavior	0.2	0	0	HPO
1717	DHCR7	C0086543	Cataract	0.2	0	0	HPO
1717	DHCR7	C0151526	Premature Birth	0.2	0	0	HPO
1717	DHCR7	C0151718	Hypocholesterolemia	0.2	0	0	HPO
1717	DHCR7	C0152237	Talipes Calcaneovalgus	0.2	0	0	HPO
1717	DHCR7	C0156394	Hypertrophy of clitoris	0.2	0	0	HPO
1717	DHCR7	C0175694	Smith-Lemli-Opitz Syndrome	0.73474087615515	16	61	CTD_human;ORPHANET;UNIPROT
1717	DHCR7	C0221210	Congenital malrotation of intestine	0.2	0	0	HPO
1717	DHCR7	C0231246	Failure to gain weight	0.2	0	0	HPO
1717	DHCR7	C0231791	Toeing-in	0.2	0	0	HPO
1717	DHCR7	C0233315	Premature birth of newborn	0.2	0	0	HPO
1717	DHCR7	C0235659	Reduced fetal movement	0.2	0	0	HPO
1717	DHCR7	C0237326	Dyschezia	0.2	0	0	HPO
1717	DHCR7	C0239234	Low set ears	0.2	0	0	HPO
1717	DHCR7	C0239998	Recurrent infections	0.2	0	0	HPO
1717	DHCR7	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1717	DHCR7	C0262444	Dental abnormalities	0.2	0	0	HPO
1717	DHCR7	C0263401	Cutis marmorata	0.2	0	0	HPO
1717	DHCR7	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1717	DHCR7	C0266295	Congenital hypoplasia of kidney	0.2	0	0	HPO
1717	DHCR7	C0266362	Ambiguous Genitalia	0.2	0	0	HPO
1717	DHCR7	C0266387	Bicornuate uterus	0.2	0	0	HPO
1717	DHCR7	C0266411	Septate vagina	0.2	0	0	HPO
1717	DHCR7	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1717	DHCR7	C0339789	Congenital deafness	0.2	0	0	HPO
1717	DHCR7	C0341787	Bifid scrotum	0.2	0	0	HPO
1717	DHCR7	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
1717	DHCR7	C0349506	Photosensitivity of skin	0.2	0	0	HPO
1717	DHCR7	C0349588	Short stature	0.2	0	0	HPO
1717	DHCR7	C0376480	Gingival Overgrowth	0.2	0	0	HPO
1717	DHCR7	C0423903	Low intelligence	0.2	0	0	HPO
1717	DHCR7	C0424295	Hyperactive behavior	0.200274726784213	0	0	HPO
1717	DHCR7	C0424323	Physical aggression	0.2	0	0	HPO
1717	DHCR7	C0424688	Small head	0.2	0	0	HPO
1717	DHCR7	C0426492	Small tongue	0.2	0	0	HPO
1717	DHCR7	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
1717	DHCR7	C0431659	Hypoplasia of scrotum	0.2	0	0	HPO
1717	DHCR7	C0431890	Hypoplasia of thumb	0.2	0	0	HPO
1717	DHCR7	C0431904	Ulnar polydactyly of fingers	0.2	0	0	HPO
1717	DHCR7	C0432040	Simple syndactyly of toes, first web space	0.2	0	0	HPO
1717	DHCR7	C0432333	Abnormal dermatoglyphic pattern	0.2	0	0	HPO
1717	DHCR7	C0521525	Short neck	0.2	0	0	HPO
1717	DHCR7	C0521619	Obstruction of pelviureteric junction	0.2	0	0	HPO
1717	DHCR7	C0542519	Congenital absence of kidney	0.2	0	0	HPO
1717	DHCR7	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1717	DHCR7	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1717	DHCR7	C0685695	Abnormal lung lobation	0.2	0	0	HPO
1717	DHCR7	C0747085	Recurrent otitis media	0.2	0	0	HPO
1717	DHCR7	C0860204	Cholestatic liver disease	0.2	0	0	HPO
1717	DHCR7	C0917816	Mental deficiency	0.2	0	0	HPO
1717	DHCR7	C0920299	Overriding toe	0.2	0	0	HPO
1717	DHCR7	C1136179	Hammer Toe	0.2	0	0	HPO
1717	DHCR7	C1263846	Attention deficit hyperactivity disorder	0.2	0	0	HPO
1717	DHCR7	C1317785	Tooth size discrepancy	0.2	0	0	HPO
1717	DHCR7	C1384666	hearing impairment	0.2	0	0	HPO
1717	DHCR7	C1386048	Intrauterine retardation	0.2	0	0	HPO
1717	DHCR7	C1389016	ATRIOVENTRICULAR CANAL DEFECT	0.200274726784213	0	0	HPO
1717	DHCR7	C1457883	Aggressive reaction	0.2	0	0	HPO
1717	DHCR7	C1510497	Lens Opacities	0.2	0	0	HPO
1717	DHCR7	C1691215	Penile hypospadias	0.2	0	0	HPO
1717	DHCR7	C1827524	Wide spaced nipples	0.2	0	0	HPO
1717	DHCR7	C1833362	Sleep-wake cycle disturbance	0.2	0	0	HPO
1717	DHCR7	C1836195	Hypoplastic toes	0.2	0	0	HPO
1717	DHCR7	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1717	DHCR7	C1836923	Gastrointestinal dysmotility	0.2	0	0	HPO
1717	DHCR7	C1837142	Poor suck	0.2	0	0	HPO
1717	DHCR7	C1839758	Narrow forehead	0.2	0	0	HPO
1717	DHCR7	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1717	DHCR7	C1840077	Anteverted nostril	0.2	0	0	HPO
1717	DHCR7	C1843367	Poor school performance	0.2	0	0	HPO
1717	DHCR7	C1849172	Frontal lobe hypoplasia	0.2	0	0	HPO
1717	DHCR7	C1849173	Periventricular neuronal heterotopia	0.2	0	0	HPO
1717	DHCR7	C1849185	Elevated 7-dehydrocholesterol	0.2	0	0	HPO
1717	DHCR7	C1849186	Severe photosensitivity	0.2	0	0	HPO
1717	DHCR7	C1849367	Nasal bridge wide	0.2	0	0	HPO
1717	DHCR7	C1854418	Biparietal narrowing	0.2	0	0	HPO
1717	DHCR7	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1717	DHCR7	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
1717	DHCR7	C1857500	Broad alveolar ridges	0.2	0	0	HPO
1717	DHCR7	C1858120	Generalized hypotonia	0.2	0	0	HPO
1717	DHCR7	C1858545	Facial capillary hemangioma	0.2	0	0	HPO
1717	DHCR7	C1859126	Stippled epiphyses	0.2	0	0	HPO
1717	DHCR7	C1864897	Cognitive delay	0.2	0	0	HPO
1717	DHCR7	C1865014	Long philtrum	0.2	0	0	HPO
1717	DHCR7	C1865572	Proximally placed thumbs	0.2	0	0	HPO
1717	DHCR7	C2112129	Postaxial foot polydactyly	0.2	0	0	HPO
1717	DHCR7	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1717	DHCR7	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1717	DHCR7	C2713347	7-Dehydrocholesterol Reductase Deficiency	0.200274726784213	0	0	ORPHANET
1717	DHCR7	C2830004	Somnolence	0.2	0	0	HPO
1717	DHCR7	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1717	DHCR7	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1717	DHCR7	C3279222	Cerebellar hypoplasia and atrophy	0.2	0	0	HPO
1717	DHCR7	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1717	DHCR7	C3714756	Intellectual Disability	0.201373633921065	0	0	HPO
1717	DHCR7	C3887499	Renal cyst	0.2	0	0	HPO
1717	DHCR7	C4020865	Fibular polydactyly	0.2	0	0	HPO
1717	DHCR7	C4020875	Mental and motor retardation	0.2	0	0	HPO
1717	DHCR7	C4020876	Dull intelligence	0.2	0	0	HPO
1717	DHCR7	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1717	DHCR7	C4021777	Abnormality of the larynx	0.2	0	0	HPO
1717	DHCR7	C4021785	Abnormality of the metacarpal bones	0.2	0	0	HPO
1717	DHCR7	C4023676	Increased nuchal translucency	0.2	0	0	HPO
1717	DHCR7	C4082169	Metatarsus Varus	0.2	0	0	HPO
1717	DHCR7	C4280495	Concave bridge of nose	0.2	0	0	HPO
1717	DHCR7	C4280532	Decreased width of the skull	0.2	0	0	HPO
1717	DHCR7	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
1717	DHCR7	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
1717	DHCR7	C4280675	Broad alveolar processes of jaw	0.2	0	0	HPO
1718	DHCR24	C0002395	Alzheimer's Disease	0.213967999862916	1	0	CTD_human
1718	DHCR24	C0003886	Arthrogryposis	0.2	0	0	HPO
1718	DHCR24	C0014544	Epilepsy	0.2	0	0	HPO
1718	DHCR24	C0020255	Hydrocephalus	0.2	0	0	HPO
1718	DHCR24	C0026838	Muscle Spasticity	0.2	0	0	HPO
1718	DHCR24	C0028738	Nystagmus	0.2	0	0	HPO
1718	DHCR24	C0034362	Q Fever	0.2	1	0	CTD_human
1718	DHCR24	C0036572	Seizures	0.2	0	0	HPO
1718	DHCR24	C0038379	Strabismus	0.2	0	0	HPO
1718	DHCR24	C0231246	Failure to gain weight	0.2	0	0	HPO
1718	DHCR24	C0426414	Small nose	0.2	0	0	HPO
1718	DHCR24	C0431368	Partial agenesis of corpus callosum	0.2	0	0	HPO
1718	DHCR24	C1510586	Autism Spectrum Disorders	0.2	1	0	CTD_human
1718	DHCR24	C1837514	Phenotypic variability	0.2	0	0	HPO
1718	DHCR24	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1718	DHCR24	C1840077	Anteverted nostril	0.2	0	0	HPO
1718	DHCR24	C1849075	Relative macrocephaly	0.2	0	0	HPO
1718	DHCR24	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1718	DHCR24	C1854114	Short nose	0.2	0	0	HPO
1718	DHCR24	C1857278	Partial or complete agenesis of corpus callosum	0.2	0	0	HPO
1718	DHCR24	C1865596	Desmosterolosis	0.601373633921066	1	8	CTD_human;ORPHANET;UNIPROT
1718	DHCR24	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1718	DHCR24	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1718	DHCR24	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1718	DHCR24	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1719	DHFR	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1719	DHFR	C0002888	Anemia, Megaloblastic	0.400274726784213	2	0	CTD_human;HPO
1719	DHFR	C0003873	Rheumatoid Arthritis	0.201098907136852	1	0	CTD_human
1719	DHFR	C0004352	Autistic Disorder	0.203007639249027	1	0	CTD_human
1719	DHFR	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1719	DHFR	C0009404	Colorectal Neoplasms	0.200274726784213	1	0	CTD_human
1719	DHFR	C0014553	Absence Epilepsy	0.2	0	0	HPO
1719	DHFR	C0016412	Folic Acid Deficiency	0.202407028523288	1	0	CTD_human
1719	DHFR	C0019209	Hepatomegaly	0.2	0	0	HPO
1719	DHFR	C0021361	Female infertility	0.2	1	0	CTD_human
1719	DHFR	C0025521	Inborn Errors of Metabolism	0.2	2	0	CTD_human
1719	DHFR	C0026827	Muscle hypotonia	0.2	0	0	HPO
1719	DHFR	C0027627	Neoplasm Metastasis	0.281098907136852	1	0	CTD_human
1719	DHFR	C0027765	nervous system disorder	0.200274726784213	2	0	CTD_human
1719	DHFR	C0029463	Osteosarcoma	0.207114185634906	1	0	CTD_human
1719	DHFR	C0030232	Pallor	0.2	0	0	HPO
1719	DHFR	C0030312	Pancytopenia	0.4	1	0	CTD_human;HPO
1719	DHFR	C0040034	Thrombocytopenia	0.2	0	0	HPO
1719	DHFR	C0041755	Adverse reaction to drug	0.2	1	0	CTD_human
1719	DHFR	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1719	DHFR	C0232466	Feeding difficulties	0.2	0	0	HPO
1719	DHFR	C0235946	Cerebral atrophy	0.2	0	0	HPO
1719	DHFR	C0392386	Decreased platelet count	0.2	0	0	HPO
1719	DHFR	C0557874	Global developmental delay	0.2	0	0	HPO
1719	DHFR	C1277241	Delayed myelination	0.2	0	0	HPO
1719	DHFR	C1458155	Mammary Neoplasms	0.200274726784213	1	0	CTD_human
1719	DHFR	C1836038	Poor head control	0.2	0	0	HPO
1719	DHFR	C1847514	Postnatal microcephaly	0.2	0	0	HPO
1719	DHFR	C1861403	Variable expressivity	0.2	0	0	HPO
1719	DHFR	C1864897	Cognitive delay	0.2	0	0	HPO
1719	DHFR	C1866862	Highly variable severity	0.2	0	0	HPO
1719	DHFR	C3151205	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency	0.400274726784213	2	2	ORPHANET;UNIPROT
1719	DHFR	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1719	DHFR	C4020875	Mental and motor retardation	0.2	0	0	HPO
1719	DHFR	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1719	DHFR	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1723	DHODH	C0002895	Anemia, Sickle Cell	0.2	1	0	CTD_human
1723	DHODH	C0005283	beta Thalassemia	0.2	1	0	CTD_human
1723	DHODH	C0008297	Choanal Atresia	0.2	0	0	HPO
1723	DHODH	C0008924	Cleft Lip	0.2	0	0	HPO
1723	DHODH	C0008925	Cleft Palate	0.2	0	0	HPO
1723	DHODH	C0010417	Cryptorchidism	0.2	0	0	HPO
1723	DHODH	C0013592	Ectropion	0.2	0	0	HPO
1723	DHODH	C0016506	Foot Deformities	0.2	0	0	HPO
1723	DHODH	C0018777	Conductive hearing loss	0.2	0	0	HPO
1723	DHODH	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1723	DHODH	C0022658	Kidney Diseases	0.2	0	0	HPO
1723	DHODH	C0023440	Acute Erythroblastic Leukemia	0.2	1	0	CTD_human
1723	DHODH	C0025990	Micrognathism	0.2	0	0	HPO
1723	DHODH	C0034194	Pyloric Stenosis	0.2	0	0	HPO
1723	DHODH	C0037889	Hereditary spherocytosis	0.2	1	0	CTD_human
1723	DHODH	C0039075	Syndactyly	0.2	0	0	HPO
1723	DHODH	C0152423	Congenital small ears	0.2	0	0	HPO
1723	DHODH	C0158761	Radioulnar Synostosis	0.2	0	0	HPO
1723	DHODH	C0221352	Syndactyly of fingers	0.2	0	0	HPO
1723	DHODH	C0239234	Low set ears	0.2	0	0	HPO
1723	DHODH	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1723	DHODH	C0265257	Genee-Wiedemann syndrome	0.401098907136852	1	8	ORPHANET;UNIPROT
1723	DHODH	C0265681	Supernumerary vertebra	0.2	0	0	HPO
1723	DHODH	C0266011	Accessory nipple	0.2	0	0	HPO
1723	DHODH	C0266037	Peg-shaped teeth	0.2	0	0	HPO
1723	DHODH	C0266292	Congenital anomaly of the kidney	0.2	0	0	HPO
1723	DHODH	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1723	DHODH	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1723	DHODH	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1723	DHODH	C0431890	Hypoplasia of thumb	0.2	0	0	HPO
1723	DHODH	C0432333	Abnormal dermatoglyphic pattern	0.2	0	0	HPO
1723	DHODH	C0521573	Coloboma of eyelid	0.2	0	0	HPO
1723	DHODH	C0521736	Lower eyelid ectropion	0.2	0	0	HPO
1723	DHODH	C0685381	Congenital hypoplasia of radius	0.2	0	0	HPO
1723	DHODH	C1840087	Radial ray hypoplasia	0.2	0	0	HPO
1723	DHODH	C1845447	Cupped ears (finding)	0.2	0	0	HPO
1723	DHODH	C1849706	Midgut malrotation	0.2	0	0	HPO
1723	DHODH	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1723	DHODH	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
1723	DHODH	C1858085	Malar flattening	0.2	0	0	HPO
1723	DHODH	C1859778	Postnatal growth retardation	0.2	0	0	HPO
1723	DHODH	C1860614	ULNAR HYPOPLASIA	0.2	0	0	HPO
1723	DHODH	C1862132	Short ulnae	0.2	0	0	HPO
1723	DHODH	C2051831	Pectus excavatum	0.2	0	0	HPO
1723	DHODH	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1723	DHODH	C4012359	Pointed teeth	0.2	0	0	HPO
1723	DHODH	C4020808	Everted lower eyelids	0.2	0	0	HPO
1723	DHODH	C4020892	Capuchin ears	0.2	0	0	HPO
1723	DHODH	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1723	DHODH	C4021020	Non-midline cleft lip	0.2	0	0	HPO
1723	DHODH	C4049796	Abnormality of cardiovascular system morphology	0.2	0	0	HPO
1723	DHODH	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1727	CYB5R3	C0010520	Cyanosis	0.400824180352639	1	0	CTD_human;HPO
1727	CYB5R3	C0018681	Headache	0.2	0	0	HPO
1727	CYB5R3	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1727	CYB5R3	C0025637	Methemoglobinemia	0.409311999908611	1	0	CTD_human;HPO
1727	CYB5R3	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1727	CYB5R3	C0032461	Polycythemia	0.2	0	0	HPO
1727	CYB5R3	C0038379	Strabismus	0.2	0	0	HPO
1727	CYB5R3	C0151686	Growth retardation	0.2	0	0	HPO
1727	CYB5R3	C0151818	Opisthotonus	0.2	0	0	HPO
1727	CYB5R3	C0231807	Dyspnea on exertion	0.2	0	0	HPO
1727	CYB5R3	C0268193	NADH cytochrome B5 reductase deficiency	0.4	9	9	CTD_human;UNIPROT
1727	CYB5R3	C0272087	Congenital Methemoglobinemia	0.20357144819477	0	0	ORPHANET
1727	CYB5R3	C0423903	Low intelligence	0.2	0	0	HPO
1727	CYB5R3	C0424688	Small head	0.2	0	0	HPO
1727	CYB5R3	C0456070	Growth delay	0.2	0	0	HPO
1727	CYB5R3	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1727	CYB5R3	C0878787	Growth failure	0.2	0	0	HPO
1727	CYB5R3	C0917816	Mental deficiency	0.2	0	0	HPO
1727	CYB5R3	C1527405	Erythrocytosis	0.2	0	0	HPO
1727	CYB5R3	C1837385	Poor growth	0.2	0	0	HPO
1727	CYB5R3	C1843367	Poor school performance	0.2	0	0	HPO
1727	CYB5R3	C1864897	Cognitive delay	0.2	0	0	HPO
1727	CYB5R3	C3552463	Very poor growth	0.2	0	0	HPO
1727	CYB5R3	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1727	CYB5R3	C4020875	Mental and motor retardation	0.2	0	0	HPO
1727	CYB5R3	C4020876	Dull intelligence	0.2	0	0	HPO
1727	CYB5R3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1728	NQO1	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1728	NQO1	C0004096	Asthma	0.216639985413433	1	0	CTD_human
1728	NQO1	C0005695	Bladder Neoplasm	0.294726667680926	1	0	CTD_human
1728	NQO1	C0007131	Non-Small Cell Lung Carcinoma	0.204670355331623	2	0	CTD_human
1728	NQO1	C0008370	Cholestasis	0.2	1	0	CTD_human
1728	NQO1	C0009404	Colorectal Neoplasms	0.212309869400653	1	0	CTD_human
1728	NQO1	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1728	NQO1	C0011853	Diabetes Mellitus, Experimental	0.2	1	0	CTD_human
1728	NQO1	C0019061	Hemolytic-Uremic Syndrome	0.2	1	0	CTD_human
1728	NQO1	C0019080	Hemorrhage	0.2	1	0	CTD_human
1728	NQO1	C0020456	Hyperglycemia	0.2	1	0	CTD_human
1728	NQO1	C0022658	Kidney Diseases	0.2	1	0	CTD_human
1728	NQO1	C0023470	Myeloid Leukemia	0.20777053913829	1	0	CTD_human
1728	NQO1	C0023895	Liver diseases	0.200274726784213	2	0	CTD_human
1728	NQO1	C0026764	Multiple Myeloma	0.206238848124954	1	0	CTD_human
1728	NQO1	C0027659	Neoplasms, Experimental	0.2	2	0	CTD_human
1728	NQO1	C0028754	Obesity	0.2	1	0	CTD_human
1728	NQO1	C0028797	Occupational Diseases	0.204814057046576	4	0	CTD_human
1728	NQO1	C0030354	Papilloma	0.2	1	0	CTD_human
1728	NQO1	C0030567	Parkinson Disease	0.220406292480469	1	0	CTD_human
1728	NQO1	C0033578	Prostatic Neoplasms	0.203007639249027	1	0	CTD_human
1728	NQO1	C0036341	Schizophrenia	0.208920603432455	3	0	PSYGENET
1728	NQO1	C0235032	Neurotoxicity Syndromes	0.2	1	0	CTD_human
1728	NQO1	C0236663	Alcohol withdrawal syndrome	0.200274726784213	1	0	PSYGENET
1728	NQO1	C0525045	Mood Disorders	0.205414667772315	1	0	PSYGENET
1728	NQO1	C0853193	Bipolar I disorder	0.2	1	0	PSYGENET
1728	NQO1	C1458155	Mammary Neoplasms	0.215261765872035	1	0	CTD_human
1728	NQO1	C1846707	SPINOCEREBELLAR ATAXIA 17	0.2	1	0	CTD_human
1728	NQO1	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	0.237530218927698	1	0	CTD_human
1728	NQO1	C2609414	Acute kidney injury	0.2	1	0	CTD_human
1729	DIAPH1	C0014544	Epilepsy	0.2	0	0	HPO
1729	DIAPH1	C0018784	Sensorineural Hearing Loss (disorder)	0.200274726784213	0	0	HPO
1729	DIAPH1	C0029124	Optic Atrophy	0.2	0	0	HPO
1729	DIAPH1	C0036572	Seizures	0.200274726784213	0	0	HPO
1729	DIAPH1	C0155320	Blindness, Cortical	0.2	0	0	HPO
1729	DIAPH1	C0271514	Low frequency deafness	0.200274726784213	0	0	HPO
1729	DIAPH1	C0344482	Hypoplasia of corpus callosum	0.2	0	0	HPO
1729	DIAPH1	C0349588	Short stature	0.2	0	0	HPO
1729	DIAPH1	C0424688	Small head	0.2	0	0	HPO
1729	DIAPH1	C1837352	Childhood onset	0.2	0	0	HPO
1729	DIAPH1	C1842138	Progressive hearing loss	0.2	0	0	HPO
1729	DIAPH1	C1848207	Poor speech	0.2	0	0	HPO
1729	DIAPH1	C1852282	DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	0.2	0	0	CTD_human
1729	DIAPH1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1729	DIAPH1	C4048268	Cortical visual impairment	0.2	0	0	HPO
1729	DIAPH1	C4280574	Problems speaking	0.2	0	0	HPO
173	AFM	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1730	DIAPH2	C0025322	Premature Menopause	0.201373633921065	0	0	HPO
1730	DIAPH2	C1845293	Premature Ovarian Failure 2a	0.2	0	0	CTD_human
1733	DIO1	C0020551	Hyperthyroxinemia	0.2	1	0	CTD_human
1733	DIO1	C0023893	Liver Cirrhosis, Experimental	0.2	2	0	CTD_human
1733	DIO1	C0025521	Inborn Errors of Metabolism	0.2	1	0	CTD_human
1733	DIO1	C0040128	Thyroid Diseases	0.2	1	0	CTD_human
1736	DKC1	C0002170	Alopecia	0.2	0	0	HPO
1736	DKC1	C0002871	Anemia	0.2	0	0	HPO
1736	DKC1	C0005741	Blepharitis	0.2	0	0	HPO
1736	DKC1	C0005779	Blood Coagulation Disorders	0.2	0	0	HPO
1736	DKC1	C0007137	Squamous cell carcinoma	0.2	0	0	HPO
1736	DKC1	C0009763	Conjunctivitis	0.2	0	0	HPO
1736	DKC1	C0010417	Cryptorchidism	0.2	0	0	HPO
1736	DKC1	C0011334	Dental caries	0.2	0	0	HPO
1736	DKC1	C0014866	Esophageal Stenosis	0.2	0	0	HPO
1736	DKC1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1736	DKC1	C0017563	Gingival Diseases	0.2	0	0	HPO
1736	DKC1	C0019087	Hemorrhagic Disorders	0.2	0	0	HPO
1736	DKC1	C0019829	Hodgkin Disease	0.2	0	0	HPO
1736	DKC1	C0020458	Hyperhidrosis disorder	0.2	0	0	HPO
1736	DKC1	C0020608	Hypodontia	0.2	0	0	HPO
1736	DKC1	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1736	DKC1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1736	DKC1	C0023467	Leukemia, Myelocytic, Acute	0.200274726784213	0	0	HPO
1736	DKC1	C0023530	Leukopenia	0.2	0	0	HPO
1736	DKC1	C0023532	Leukoplakia, Oral	0.2	0	0	HPO
1736	DKC1	C0023890	Liver Cirrhosis	0.2	0	0	HPO
1736	DKC1	C0025362	Mental Retardation	0.2	0	0	HPO
1736	DKC1	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1736	DKC1	C0029124	Optic Atrophy	0.2	0	0	HPO
1736	DKC1	C0029456	Osteoporosis	0.2	0	0	HPO
1736	DKC1	C0030312	Pancytopenia	0.201373633921065	0	0	HPO
1736	DKC1	C0031090	Periodontal Diseases	0.2	0	0	HPO
1736	DKC1	C0031099	Periodontitis	0.2	0	0	HPO
1736	DKC1	C0034069	Pulmonary Fibrosis	0.2	0	0	HPO
1736	DKC1	C0037299	Skin Ulcer	0.2	0	0	HPO
1736	DKC1	C0038379	Strabismus	0.2	0	0	HPO
1736	DKC1	C0038990	Sweating	0.2	0	0	HPO
1736	DKC1	C0040034	Thrombocytopenia	0.2	0	0	HPO
1736	DKC1	C0040588	Tracheoesophageal Fistula	0.2	0	0	HPO
1736	DKC1	C0041974	Urethral Stricture	0.2	0	0	HPO
1736	DKC1	C0085581	Restrictive lung disease	0.2	0	0	HPO
1736	DKC1	C0086543	Cataract	0.2	0	0	HPO
1736	DKC1	C0151514	Atrophic condition of skin	0.2	0	0	HPO
1736	DKC1	C0152227	Excessive tearing	0.2	0	0	HPO
1736	DKC1	C0162119	Hemoglobin low	0.2	0	0	HPO
1736	DKC1	C0162834	Hyperpigmentation	0.2	0	0	HPO
1736	DKC1	C0221260	Dystrophia unguium	0.2	0	0	HPO
1736	DKC1	C0221353	Horseshoe Kidney	0.2	0	0	HPO
1736	DKC1	C0231246	Failure to gain weight	0.2	0	0	HPO
1736	DKC1	C0232513	Premature tooth loss	0.2	0	0	HPO
1736	DKC1	C0235946	Cerebral atrophy	0.2	0	0	HPO
1736	DKC1	C0241054	Skin bulla	0.2	0	0	HPO
1736	DKC1	C0241355	Small testicle	0.2	0	0	HPO
1736	DKC1	C0263498	Premature canities	0.2	0	0	HPO
1736	DKC1	C0263530	Longitudinal split nail	0.2	0	0	HPO
1736	DKC1	C0265965	Dyskeratosis Congenita	0.421906365850462	2	0	CTD_human;ORPHANET
1736	DKC1	C0266039	Taurodontism	0.2	0	0	HPO
1736	DKC1	C0266470	Cerebellar Hypoplasia	0.200274726784213	0	0	HPO
1736	DKC1	C0339063	Cellulitis of eyelid	0.2	0	0	HPO
1736	DKC1	C0345326	Congenital phimosis	0.2	0	0	HPO
1736	DKC1	C0349588	Short stature	0.2	0	0	HPO
1736	DKC1	C0392386	Decreased platelet count	0.2	0	0	HPO
1736	DKC1	C0399385	Early tooth exfoliation	0.2	0	0	HPO
1736	DKC1	C0406438	Pterygium of nail	0.2	0	0	HPO
1736	DKC1	C0423820	Ridged nails	0.2	0	0	HPO
1736	DKC1	C0423903	Low intelligence	0.2	0	0	HPO
1736	DKC1	C0424688	Small head	0.2	0	0	HPO
1736	DKC1	C0427515	Neutrophil abnormality	0.2	0	0	HPO
1736	DKC1	C0557874	Global developmental delay	0.2	0	0	HPO
1736	DKC1	C0700590	Increased sweating	0.2	0	0	HPO
1736	DKC1	C0751688	Malignant Squamous Cell Neoplasm	0.2	0	0	HPO
1736	DKC1	C0917816	Mental deficiency	0.2	0	0	HPO
1736	DKC1	C1148551	X-Linked Dyskeratosis Congenita	0.286593442821114	11	40	UNIPROT
1736	DKC1	C1386048	Intrauterine retardation	0.2	0	0	HPO
1736	DKC1	C1510497	Lens Opacities	0.2	0	0	HPO
1736	DKC1	C1691215	Penile hypospadias	0.2	0	0	HPO
1736	DKC1	C1704317	Leukokeratosis	0.2	0	0	HPO
1736	DKC1	C1833752	Varying degree of multiple fractures	0.2	0	0	HPO
1736	DKC1	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1736	DKC1	C1837770	Sparse hair	0.2	0	0	HPO
1736	DKC1	C1842774	Hyperpigmented macules	0.2	0	0	HPO
1736	DKC1	C1843300	Sparse eyelashes	0.2	0	0	HPO
1736	DKC1	C1843367	Poor school performance	0.2	0	0	HPO
1736	DKC1	C1844632	Anal mucosal leukoplakia	0.2	0	0	HPO
1736	DKC1	C1845977	X- linked recessive	0.2	0	0	HPO
1736	DKC1	C1846142	HOYERAAL-HREIDARSSON SYNDROME	0.201648360705279	0	0	ORPHANET
1736	DKC1	C1846821	Coagulation abnormalities	0.2	0	0	HPO
1736	DKC1	C1851971	Hypoplastic myelodysplasia	0.2	0	0	HPO
1736	DKC1	C1855204	Cellular immunodeficiency	0.2	0	0	HPO
1736	DKC1	C1855710	Bone marrow hypocellularity	0.2	0	0	HPO
1736	DKC1	C1856749	Hypoplastic-absent toenails	0.2	0	0	HPO
1736	DKC1	C1857042	Sparse scalp hair	0.2	0	0	HPO
1736	DKC1	C1860844	Thin, sparse hair	0.2	0	0	HPO
1736	DKC1	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
1736	DKC1	C1864897	Cognitive delay	0.2	0	0	HPO
1736	DKC1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1736	DKC1	C2220104	Blister of skin	0.2	0	0	HPO
1736	DKC1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1736	DKC1	C3277226	Restrictive ventilatory defect	0.2	0	0	HPO
1736	DKC1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1736	DKC1	C3279575	Reticulate skin pigmentation	0.2	0	0	HPO
1736	DKC1	C3279601	Reticular pigmentation pattern	0.2	0	0	HPO
1736	DKC1	C3463824	MYELODYSPLASTIC SYNDROME	0.2	0	0	HPO
1736	DKC1	C3495676	Anorectal Malformations	0.2	0	0	HPO
1736	DKC1	C3714745	Malabsorption	0.2	0	0	HPO
1736	DKC1	C3714756	Intellectual Disability	0.2	0	0	HPO
1736	DKC1	C3805574	Increased fracture rate	0.2	0	0	HPO
1736	DKC1	C3806283	Frequent fractures	0.2	0	0	HPO
1736	DKC1	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1736	DKC1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1736	DKC1	C4020876	Dull intelligence	0.2	0	0	HPO
1736	DKC1	C4020958	Rough bone trabeculation	0.2	0	0	HPO
1736	DKC1	C4021782	Abnormality of the fingernails	0.2	0	0	HPO
1736	DKC1	C4022018	Telangiectasia of the skin	0.2	0	0	HPO
1736	DKC1	C4023400	Generalized hypopigmentation of hair	0.2	0	0	HPO
1736	DKC1	C4024737	Aplasia/Hypoplasia of the skin	0.2	0	0	HPO
1736	DKC1	C4024878	Generalized hyperpigmentation	0.2	0	0	HPO
1736	DKC1	C4024890	Excessive wrinkled skin	0.2	0	0	HPO
1736	DKC1	C4025838	Abnormality of the pharynx	0.2	0	0	HPO
1736	DKC1	C4025900	Abnormality of female internal genitalia	0.2	0	0	HPO
1736	DKC1	C4280616	Large elongated pulp chamber	0.2	0	0	HPO
1736	DKC1	C4280623	Rotting teeth	0.2	0	0	HPO
1737	DLAT	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1737	DLAT	C0005745	Blepharoptosis	0.2	0	0	HPO
1737	DLAT	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1737	DLAT	C0013132	Drooling	0.2	0	0	HPO
1737	DLAT	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1737	DLAT	C0028738	Nystagmus	0.2	0	0	HPO
1737	DLAT	C0037036	Sialorrhea	0.2	0	0	HPO
1737	DLAT	C0085583	Choreoathetosis	0.2	0	0	HPO
1737	DLAT	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1737	DLAT	C0151889	Hyperreflexia	0.2	0	0	HPO
1737	DLAT	C0234967	Choreoathetoid movements	0.2	0	0	HPO
1737	DLAT	C0347959	Lactic acidemia	0.2	0	0	HPO
1737	DLAT	C0393588	Dystonia, Paroxysmal	0.2	0	0	HPO
1737	DLAT	C0424688	Small head	0.2	0	0	HPO
1737	DLAT	C0557874	Global developmental delay	0.2	0	0	HPO
1737	DLAT	C1837658	Gross motor development delay	0.2	0	0	HPO
1737	DLAT	C1848207	Poor speech	0.2	0	0	HPO
1737	DLAT	C1848924	Infantile onset	0.2	0	0	HPO
1737	DLAT	C1855565	Pyruvate Dehydrogenase E2 Deficiency	0.4	0	0	CTD_human;ORPHANET
1737	DLAT	C1855568	Jerky head movements	0.2	0	0	HPO
1737	DLAT	C1864897	Cognitive delay	0.2	0	0	HPO
1737	DLAT	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1737	DLAT	C3489733	Oculomotor apraxia	0.2	0	0	HPO
1737	DLAT	C4020875	Mental and motor retardation	0.2	0	0	HPO
1737	DLAT	C4020886	Defective or absent horizontal voluntary eye movements	0.2	0	0	HPO
1737	DLAT	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1737	DLAT	C4280574	Problems speaking	0.2	0	0	HPO
1738	DLD	C0001125	Acidosis, Lactic	0.200274726784213	0	0	HPO
1738	DLD	C0007194	Hypertrophic Cardiomyopathy	0.2	0	0	HPO
1738	DLD	C0007758	Cerebellar Ataxia	0.200549453568426	0	0	HPO
1738	DLD	C0013421	Dystonia	0.2	0	0	HPO
1738	DLD	C0014544	Epilepsy	0.2	0	0	HPO
1738	DLD	C0020615	Hypoglycemia	0.2	0	0	HPO
1738	DLD	C0023264	Leigh Disease	0.200549453568426	0	0	CTD_human
1738	DLD	C0023380	Lethargy	0.2	0	0	HPO
1738	DLD	C0024776	Maple Syrup Urine Disease	0.200274726784213	0	0	CTD_human
1738	DLD	C0026827	Muscle hypotonia	0.2	0	0	HPO
1738	DLD	C0036572	Seizures	0.2	0	0	HPO
1738	DLD	C0085584	Encephalopathies	0.2	0	0	HPO
1738	DLD	C0220981	Metabolic acidosis	0.2	0	0	HPO
1738	DLD	C0232466	Feeding difficulties	0.2	0	0	HPO
1738	DLD	C0268193	NADH cytochrome B5 reductase deficiency	0.402472541057918	8	17	ORPHANET;UNIPROT
1738	DLD	C0347959	Lactic acidemia	0.2	0	0	HPO
1738	DLD	C0424688	Small head	0.2	0	0	HPO
1738	DLD	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1738	DLD	C1861403	Variable expressivity	0.2	0	0	HPO
1738	DLD	C1864897	Cognitive delay	0.2	0	0	HPO
1738	DLD	C1866862	Highly variable severity	0.2	0	0	HPO
1738	DLD	C4020871	Dystonic disease	0.2	0	0	HPO
1738	DLD	C4020875	Mental and motor retardation	0.2	0	0	HPO
1738	DLD	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1739	DLG1	C0008925	Cleft Palate	0.2	1	0	CTD_human
1739	DLG1	C0036341	Schizophrenia	0.206462417751855	3	0	CTD_human
174	AFP	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
174	AFP	C0023895	Liver diseases	0.203296721410557	1	0	CTD_human
174	AFP	C0023904	Liver Neoplasms, Experimental	0.2	1	0	CTD_human
174	AFP	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
174	AFP	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
174	AFP	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
174	AFP	C1863080	ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF	0.2	0	0	ORPHANET
174	AFP	C1863081	alpha-Fetoprotein Deficiency	0.2	0	0	ORPHANET
174	AFP	C2239176	Liver carcinoma	0.320993686972206	3	0	CTD_human
174	AFP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
174	AFP	C4073295	Decreased levels of alpha-fetoprotein	0.2	0	0	HPO
1740	DLG2	C0005586	Bipolar Disorder	0.2	2	0	PSYGENET
1740	DLG2	C0025202	melanoma	0.2	1	0	CTD_human
1740	DLG2	C0036341	Schizophrenia	0.20350593566014	4	1	PSYGENET
1740	DLG2	C0041696	Unipolar Depression	0.2	1	0	PSYGENET
1740	DLG2	C0809983	Schizophrenia and related disorders	0.2	1	0	PSYGENET
1740	DLG2	C1269683	Major Depressive Disorder	0.2	1	0	PSYGENET
1741	DLG3	C0005586	Bipolar Disorder	0.200824180352639	4	0	PSYGENET
1741	DLG3	C0014394	Enuresis	0.2	0	0	HPO
1741	DLG3	C0023012	Language Delay	0.2	0	0	HPO
1741	DLG3	C0025362	Mental Retardation	0.203296721410557	0	0	HPO
1741	DLG3	C0026827	Muscle hypotonia	0.2	0	0	HPO
1741	DLG3	C0036341	Schizophrenia	0.201648360705279	5	0	PSYGENET
1741	DLG3	C0038379	Strabismus	0.2	0	0	HPO
1741	DLG3	C0041696	Unipolar Depression	0.200549453568426	3	0	PSYGENET
1741	DLG3	C0233514	Abnormal behavior	0.2	0	0	HPO
1741	DLG3	C0233715	Speech impairment	0.2	0	0	HPO
1741	DLG3	C0241210	Speech Delay	0.2	0	0	HPO
1741	DLG3	C0423903	Low intelligence	0.2	0	0	HPO
1741	DLG3	C0454644	Delayed speech and language development	0.2	0	0	HPO
1741	DLG3	C0525045	Mood Disorders	0.200549453568426	2	0	PSYGENET
1741	DLG3	C0557874	Global developmental delay	0.2	0	0	HPO
1741	DLG3	C0917816	Mental deficiency	0.2	0	0	HPO
1741	DLG3	C1136249	Mental Retardation, X-Linked	0.204120901763196	1	0	CTD_human
1741	DLG3	C1269683	Major Depressive Disorder	0.200549453568426	3	0	PSYGENET
1741	DLG3	C1843367	Poor school performance	0.2	0	0	HPO
1741	DLG3	C1845977	X- linked recessive	0.2	0	0	HPO
1741	DLG3	C1864897	Cognitive delay	0.2	0	0	HPO
1741	DLG3	C3714756	Intellectual Disability	0.203296721410557	0	0	HPO
1741	DLG3	C4020875	Mental and motor retardation	0.2	0	0	HPO
1741	DLG3	C4020876	Dull intelligence	0.2	0	0	HPO
1742	DLG4	C0005586	Bipolar Disorder	0.200824180352639	4	0	PSYGENET
1742	DLG4	C0011570	Mental Depression	0.2	1	0	PSYGENET
1742	DLG4	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1742	DLG4	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1742	DLG4	C0036341	Schizophrenia	0.211891440901487	3	0	PSYGENET
1742	DLG4	C0041696	Unipolar Depression	0.200274726784213	4	0	PSYGENET
1742	DLG4	C0175702	Williams Syndrome	0.280274726784213	1	0	CTD_human
1742	DLG4	C0525045	Mood Disorders	0.200824180352639	3	0	PSYGENET
1742	DLG4	C1269683	Major Depressive Disorder	0.200824180352639	4	0	PSYGENET
1742	DLG4	C1510586	Autism Spectrum Disorders	0.200549453568426	1	0	CTD_human
1743	DLST	C0349464	Wernicke-Korsakoff Syndrome	0.200274726784213	1	0	PSYGENET
1745	DLX1	C0004352	Autistic Disorder	0.205414667772315	1	0	CTD_human
1745	DLX1	C0005586	Bipolar Disorder	0.200274726784213	1	0	PSYGENET
1745	DLX1	C0033975	Psychotic Disorders	0.200549453568426	1	0	PSYGENET
1745	DLX1	C0036341	Schizophrenia	0.202681755307501	1	0	PSYGENET
1745	DLX1	C0349204	Nonorganic psychosis	0.200549453568426	1	0	PSYGENET
1745	DLX1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1745	DLX1	C1510586	Autism Spectrum Disorders	0.200274726784213	1	0	CTD_human
1747	DLX3	C0002452	Amelogenesis Imperfecta	0.201373633921065	0	0	HPO
1747	DLX3	C0029464	Osteosclerosis	0.200274726784213	0	0	HPO
1747	DLX3	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1747	DLX3	C0221354	Frontal bossing	0.2	0	0	HPO
1747	DLX3	C0221358	Long narrow head	0.2	0	0	HPO
1747	DLX3	C0240340	Microdontia (disorder)	0.2	0	0	HPO
1747	DLX3	C0265333	Tricho-dento-osseous syndrome (disorder)	0.406253203502271	0	0	CTD_human;ORPHANET
1747	DLX3	C0266039	Taurodontism	0.200824180352639	0	0	HPO
1747	DLX3	C0399373	Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	0.2	0	0	ORPHANET
1747	DLX3	C1844813	Widely spaced teeth	0.2	0	0	HPO
1747	DLX3	C1856963	Fragile nails	0.2	0	0	HPO
1747	DLX3	C1863012	Amelogenesis Imperfecta, Type IV	0.200274726784213	0	0	CTD_human
1747	DLX3	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1747	DLX3	C4025872	Abnormality of the mastoid	0.2	0	0	HPO
1747	DLX3	C4280611	Decreased size of teeth	0.2	0	0	HPO
1747	DLX3	C4280612	Decreased width of tooth	0.2	0	0	HPO
1747	DLX3	C4280616	Large elongated pulp chamber	0.2	0	0	HPO
1747	DLX3	C4280653	Turridolichocephaly	0.2	0	0	HPO
1747	DLX3	C4280654	Narrow skull shape	0.2	0	0	HPO
1747	DLX3	C4280655	Narrow head shape	0.2	0	0	HPO
1747	DLX3	C4280656	Narrow cranium shape	0.2	0	0	HPO
175	AGA	C0002986	Fabry Disease	0.200274726784213	0	0	HPO
175	AGA	C0011334	Dental caries	0.2	0	0	HPO
175	AGA	C0011991	Diarrhea	0.2	0	0	HPO
175	AGA	C0013384	Dyskinetic syndrome	0.2	0	0	HPO
175	AGA	C0014544	Epilepsy	0.2	0	0	HPO
175	AGA	C0016663	Pathological fracture	0.2	0	0	HPO
175	AGA	C0017566	Gingival Hyperplasia	0.2	0	0	HPO
175	AGA	C0017567	Gingival Hypertrophy	0.2	0	0	HPO
175	AGA	C0019209	Hepatomegaly	0.2	0	0	HPO
175	AGA	C0019270	Hernia	0.2	0	0	HPO
175	AGA	C0019322	Umbilical hernia	0.2	0	0	HPO
175	AGA	C0019825	Hoarseness	0.2	0	0	HPO
175	AGA	C0020534	Orbital separation excessive	0.2	0	0	HPO
175	AGA	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
175	AGA	C0023012	Language Delay	0.2	0	0	HPO
175	AGA	C0024421	Macroglossia	0.2	0	0	HPO
175	AGA	C0024433	Macrostomia	0.2	0	0	HPO
175	AGA	C0025362	Mental Retardation	0.2	0	0	HPO
175	AGA	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
175	AGA	C0026827	Muscle hypotonia	0.2	0	0	HPO
175	AGA	C0026838	Muscle Spasticity	0.2	0	0	HPO
175	AGA	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
175	AGA	C0036572	Seizures	0.2	0	0	HPO
175	AGA	C0037822	Speech Disorders	0.2	0	0	HPO
175	AGA	C0037932	Curvature of spine	0.2	0	0	HPO
175	AGA	C0038016	Spondylolisthesis	0.2	0	0	HPO
175	AGA	C0038018	Spondylolysis	0.2	0	0	HPO
175	AGA	C0086437	Joint laxity	0.2	0	0	HPO
175	AGA	C0086543	Cataract	0.2	0	0	HPO
175	AGA	C0086795	Pfaundler-Hurler Syndrome	0.2	0	0	HPO
175	AGA	C0152423	Congenital small ears	0.2	0	0	HPO
175	AGA	C0154671	Degenerative brain disorder	0.2	0	0	HPO
175	AGA	C0158731	Congenital pectus carinatum	0.2	0	0	HPO
175	AGA	C0221356	Brachycephaly	0.2	0	0	HPO
175	AGA	C0233715	Speech impairment	0.2	0	0	HPO
175	AGA	C0235946	Cerebral atrophy	0.2	0	0	HPO
175	AGA	C0241210	Speech Delay	0.2	0	0	HPO
175	AGA	C0264112	Wedging of vertebra	0.2	0	0	HPO
175	AGA	C0268225	Aspartylglucosaminuria	0.690164891015885	4	39	CTD_human;HPO;ORPHANET;UNIPROT
175	AGA	C0302501	Mandibular hyperplasia	0.2	0	0	HPO
175	AGA	C0349588	Short stature	0.2	0	0	HPO
175	AGA	C0376480	Gingival Overgrowth	0.2	0	0	HPO
175	AGA	C0399526	Class III malocclusion	0.2	0	0	HPO
175	AGA	C0423903	Low intelligence	0.2	0	0	HPO
175	AGA	C0424688	Small head	0.2	0	0	HPO
175	AGA	C0426414	Small nose	0.2	0	0	HPO
175	AGA	C0454644	Delayed speech and language development	0.2	0	0	HPO
175	AGA	C0541764	Delayed bone age	0.2	0	0	HPO
175	AGA	C0700208	Acquired scoliosis	0.2	0	0	HPO
175	AGA	C0702166	Acne	0.2	0	0	HPO
175	AGA	C0853697	Neutrophil count decreased	0.2	0	0	HPO
175	AGA	C0917816	Mental deficiency	0.2	0	0	HPO
175	AGA	C1263023	Macroorchidism	0.2	0	0	HPO
175	AGA	C1328440	Amino acid level abnormal	0.2	0	0	HPO
175	AGA	C1510497	Lens Opacities	0.2	0	0	HPO
175	AGA	C1836542	Depressed nasal bridge	0.2	0	0	HPO
175	AGA	C1836543	Thick vermilion border	0.2	0	0	HPO
175	AGA	C1836550	Loss of developmental milestones	0.2	0	0	HPO
175	AGA	C1836830	Developmental regression	0.2	0	0	HPO
175	AGA	C1836855	Vacuolated lymphocytes	0.2	0	0	HPO
175	AGA	C1839739	Prominent lower lip	0.2	0	0	HPO
175	AGA	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
175	AGA	C1840077	Anteverted nostril	0.2	0	0	HPO
175	AGA	C1843367	Poor school performance	0.2	0	0	HPO
175	AGA	C1844704	Platyspondyly	0.2	0	0	HPO
175	AGA	C1845112	Hyperkyphosis	0.2	0	0	HPO
175	AGA	C1845847	Coarse facial features	0.2	0	0	HPO
175	AGA	C1849367	Nasal bridge wide	0.2	0	0	HPO
175	AGA	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
175	AGA	C1854114	Short nose	0.2	0	0	HPO
175	AGA	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
175	AGA	C1855019	Psychomotor regression	0.2	0	0	HPO
175	AGA	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
175	AGA	C1856599	Beaked vertebral bodies	0.2	0	0	HPO
175	AGA	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
175	AGA	C1858452	Thickened calvaria	0.2	0	0	HPO
175	AGA	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
175	AGA	C1859680	Broad face	0.2	0	0	HPO
175	AGA	C1859682	Hypoplastic frontal sinuses	0.2	0	0	HPO
175	AGA	C2053437	Full lower lip	0.2	0	0	HPO
175	AGA	C2227134	mandibular excess (physical finding)	0.2	0	0	HPO
175	AGA	C2748652	Large face	0.2	0	0	HPO
175	AGA	C2931840	Aspartylglucosamidase (AGA) deficiency	0.2	0	0	ORPHANET
175	AGA	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
175	AGA	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
175	AGA	C3714756	Intellectual Disability	0.2	0	0	HPO
175	AGA	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
175	AGA	C4020860	Supratentorial atrophy	0.2	0	0	HPO
175	AGA	C4020876	Dull intelligence	0.2	0	0	HPO
175	AGA	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
175	AGA	C4021541	Anterior beaking of lumbar vertebrae	0.2	0	0	HPO
175	AGA	C4021741	Abnormal cortical bone morphology	0.2	0	0	HPO
175	AGA	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
175	AGA	C4025662	Abnormality of the ulna	0.2	0	0	HPO
175	AGA	C4072823	Broad cranium shape	0.2	0	0	HPO
175	AGA	C4072824	Wide skull shape	0.2	0	0	HPO
175	AGA	C4072825	Thickened facial skin with coarse facial features	0.2	0	0	HPO
175	AGA	C4280495	Concave bridge of nose	0.2	0	0	HPO
175	AGA	C4280548	Hypotrophic frontal sinus	0.2	0	0	HPO
175	AGA	C4280549	Decreased pneumatization of frontal sinus	0.2	0	0	HPO
175	AGA	C4280560	Increased thickness of cranium	0.2	0	0	HPO
175	AGA	C4280623	Rotting teeth	0.2	0	0	HPO
175	AGA	C4280644	Increased size of mandible	0.2	0	0	HPO
175	AGA	C4280645	Hypertrophy of lower jaw	0.2	0	0	HPO
1755	DMBT1	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1755	DMBT1	C0017638	Glioma	0.203831819601666	0	0	CTD_human
1755	DMBT1	C0025149	Medulloblastoma	0.200824180352639	0	0	CTD_human
1756	DMD	C0003811	Cardiac Arrhythmia	0.2	0	0	HPO
1756	DMD	C0006663	Calcinosis	0.2	1	0	CTD_human
1756	DMD	C0007193	Cardiomyopathy, Dilated	0.417488290900374	1	0	CTD_human;HPO
1756	DMD	C0009917	Contracture	0.200824180352639	0	0	HPO
1756	DMD	C0009918	Contracture of joint	0.2	0	0	HPO
1756	DMD	C0013264	Muscular Dystrophy, Duchenne	0.851089561087121	16	285	CTD_human;ORPHANET;UNIPROT
1756	DMD	C0015672	Fatigue	0.2	0	0	HPO
1756	DMD	C0018800	Cardiomegaly	0.2	1	0	CTD_human
1756	DMD	C0018801	Heart failure	0.204120901763196	0	0	HPO
1756	DMD	C0018802	Congestive heart failure	0.20439562854741	0	0	HPO
1756	DMD	C0023269	leiomyosarcoma	0.2	1	0	CTD_human
1756	DMD	C0024003	Lordosis	0.2	0	0	HPO
1756	DMD	C0025362	Mental Retardation	0.20783605167292	0	0	HPO
1756	DMD	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1756	DMD	C0026821	Muscle Cramp	0.201098907136852	0	0	HPO
1756	DMD	C0026827	Muscle hypotonia	0.2	0	0	HPO
1756	DMD	C0026850	Muscular Dystrophy	0.494945209939527	4	0	CTD_human;HPO
1756	DMD	C0026851	Muscular Dystrophy, Animal	0.2	1	0	CTD_human
1756	DMD	C0027080	Myoglobinuria	0.2	0	0	HPO
1756	DMD	C0027540	Necrosis	0.2	1	0	CTD_human
1756	DMD	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1756	DMD	C0027627	Neoplasm Metastasis	0.200549453568426	1	0	CTD_human
1756	DMD	C0032460	Polycystic Ovary Syndrome	0.2	1	0	CTD_human
1756	DMD	C0037932	Curvature of spine	0.2	0	0	HPO
1756	DMD	C0038220	Status Epilepticus	0.28	1	0	CTD_human
1756	DMD	C0086565	Liver Dysfunction	0.2	0	0	HPO
1756	DMD	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1756	DMD	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
1756	DMD	C0151786	Muscle Weakness	0.406043989252688	1	1	CTD_human;HPO
1756	DMD	C0206656	Rhabdomyosarcoma, Embryonal	0.200274726784213	1	0	CTD_human
1756	DMD	C0231528	Myalgia	0.200549453568426	0	0	HPO
1756	DMD	C0231712	Waddling gait	0.2	0	0	HPO
1756	DMD	C0234182	Gowers sign	0.2	0	0	HPO
1756	DMD	C0235063	Respiratory Depression	0.2	0	0	HPO
1756	DMD	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
1756	DMD	C0238198	Gastrointestinal Stromal Tumors	0.200274726784213	1	0	CTD_human
1756	DMD	C0239067	Difficulty walking up stairs	0.2	0	0	HPO
1756	DMD	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1756	DMD	C0242973	Ventricular Dysfunction	0.2	1	0	CTD_human
1756	DMD	C0264886	Conduction disorder of the heart	0.2	0	0	HPO
1756	DMD	C0311394	Difficulty walking	0.2	0	0	HPO
1756	DMD	C0333068	Flexion contracture	0.2	0	0	HPO
1756	DMD	C0423903	Low intelligence	0.2	0	0	HPO
1756	DMD	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
1756	DMD	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
1756	DMD	C0438717	Transaminases increased	0.2	0	0	HPO
1756	DMD	C0522055	Electrocardiogram abnormal	0.2	0	0	HPO
1756	DMD	C0522153	Urine color abnormal	0.2	0	0	HPO
1756	DMD	C0575071	Gowers sign present	0.2	0	0	HPO
1756	DMD	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1756	DMD	C0700208	Acquired scoliosis	0.2	0	0	HPO
1756	DMD	C0855329	Electrocardiogram change	0.2	0	0	HPO
1756	DMD	C0877359	Liver function test increased	0.2	0	0	HPO
1756	DMD	C0878544	Cardiomyopathies	0.412022465970747	3	0	CTD_human;HPO
1756	DMD	C0917713	Becker Muscular Dystrophy	0.561528342376661	1	174	ORPHANET;UNIPROT
1756	DMD	C0917816	Mental deficiency	0.2	0	0	HPO
1756	DMD	C1145670	Respiratory Failure	0.200549453568426	0	0	HPO
1756	DMD	C1832603	EKG abnormalities	0.2	0	0	HPO
1756	DMD	C1837352	Childhood onset	0.2	0	0	HPO
1756	DMD	C1839666	Calf muscle pseudohypertrophy	0.2	0	0	HPO
1756	DMD	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
1756	DMD	C1842820	Cardiac conduction abnormalities	0.2	0	0	HPO
1756	DMD	C1843367	Poor school performance	0.2	0	0	HPO
1756	DMD	C1845977	X- linked recessive	0.2	0	0	HPO
1756	DMD	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
1756	DMD	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1756	DMD	C1853562	Adult onset	0.2	0	0	HPO
1756	DMD	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
1756	DMD	C3203358	Hypoventilation	0.2	0	0	HPO
1756	DMD	C3668940	Dmd-Associated Dilated Cardiomyopathy	0.412022465970747	4	220	CTD_human;UNIPROT
1756	DMD	C3714756	Intellectual Disability	0.203846174978983	0	0	HPO
1756	DMD	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
1756	DMD	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
1756	DMD	C4020876	Dull intelligence	0.2	0	0	HPO
1757	SARDH	C0242184	Hypoxia	0.2	1	0	CTD_human
1757	SARDH	C0268563	Sarcosinemia	0.600824180352639	1	4	CTD_human;ORPHANET;UNIPROT
1758	DMP1	C0010278	Craniosynostosis	0.2	0	0	HPO
1758	DMP1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1758	DMP1	C0023221	Leg Length Inequality	0.2	0	0	HPO
1758	DMP1	C0029422	Osteochondrodysplasias	0.200274726784213	0	0	HPO
1758	DMP1	C0029442	Osteomalacia	0.200824180352639	0	0	HPO
1758	DMP1	C0029464	Osteosclerosis	0.2	0	0	HPO
1758	DMP1	C0035579	Rickets	0.203831819601666	0	0	HPO
1758	DMP1	C0085682	Hypophosphatemia	0.201098907136852	0	0	HPO
1758	DMP1	C0151825	Bone pain	0.2	0	0	HPO
1758	DMP1	C0162323	Polyarthritis	0.2	0	0	HPO
1758	DMP1	C0235942	Skull malformation	0.2	0	0	HPO
1758	DMP1	C0239138	Hip joint varus deformity - observation	0.2	0	0	HPO
1758	DMP1	C0239174	Late tooth eruption	0.2	0	0	HPO
1758	DMP1	C0262621	SACROILIAC JOINT ABNORMALITY	0.2	0	0	HPO
1758	DMP1	C0268079	Hyperphosphaturia	0.200549453568426	0	0	HPO
1758	DMP1	C0342643	Autosomal recessive hypophosphatemic vitamin D refractory rickets	0.481098907136852	0	0	CTD_human;ORPHANET
1758	DMP1	C0349588	Short stature	0.2	0	0	HPO
1758	DMP1	C0518988	Dental abscess	0.2	0	0	HPO
1758	DMP1	C0544755	Genu varum	0.2	0	0	HPO
1758	DMP1	C0948023	Urine phosphorous concentration above normal	0.2	0	0	HPO
1758	DMP1	C1282952	Enthesitis	0.2	0	0	HPO
1758	DMP1	C1704375	Hypophosphatemic Rickets	0.203021994626344	0	0	HPO
1758	DMP1	C1833323	Rickets of the lower limbs	0.2	0	0	HPO
1758	DMP1	C1833667	Increased serum bone-specific alkaline phosphatase	0.2	0	0	HPO
1758	DMP1	C1837081	Tibial bowing	0.2	0	0	HPO
1758	DMP1	C1838663	Enlargement of the wrists	0.2	0	0	HPO
1758	DMP1	C1845169	Renal phosphate wasting	0.2	0	0	HPO
1758	DMP1	C1859698	Contractures of the large joints	0.2	0	0	HPO
1758	DMP1	C1860107	Distal femoral bowing	0.2	0	0	HPO
1758	DMP1	C1861329	Spinal canal stenosis	0.2	0	0	HPO
1758	DMP1	C3714745	Malabsorption	0.2	0	0	HPO
1758	DMP1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1758	DMP1	C4020957	Abnormal trabecular bone morphology	0.2	0	0	HPO
1758	DMP1	C4021028	Pseudo-fractures	0.2	0	0	HPO
1758	DMP1	C4023065	Low serum calcitriol	0.2	0	0	HPO
1758	DMP1	C4023579	Abnormality of renal excretion	0.2	0	0	HPO
1758	DMP1	C4024631	Renal hypophosphatemia	0.2	0	0	HPO
1758	DMP1	C4280567	Abnormal skeletal development	0.2	0	0	HPO
1759	DNM1	C0001807	Aggressive behavior	0.2	0	0	HPO
1759	DNM1	C0014544	Epilepsy	0.200824180352639	0	0	HPO
1759	DNM1	C0025362	Mental Retardation	0.2	0	0	HPO
1759	DNM1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1759	DNM1	C0027066	Myoclonus	0.2	0	0	HPO
1759	DNM1	C0031212	Personality Disorders	0.2	0	0	HPO
1759	DNM1	C0036341	Schizophrenia	0.20328236603324	1	0	PSYGENET
1759	DNM1	C0036572	Seizures	0.201098907136852	0	0	HPO
1759	DNM1	C0085584	Encephalopathies	0.200274726784213	0	0	HPO
1759	DNM1	C0234985	Mental deterioration	0.2	0	0	HPO
1759	DNM1	C0238111	Lennox-Gastaut syndrome	0.2	0	0	ORPHANET
1759	DNM1	C0270846	Epileptic drop attack	0.2	0	0	HPO
1759	DNM1	C0311394	Difficulty walking	0.2	0	0	HPO
1759	DNM1	C0423903	Low intelligence	0.2	0	0	HPO
1759	DNM1	C0424295	Hyperactive behavior	0.2	0	0	HPO
1759	DNM1	C0424323	Physical aggression	0.2	0	0	HPO
1759	DNM1	C0494475	Tonic - clonic seizures	0.2	0	0	HPO
1759	DNM1	C0543888	Epileptic encephalopathy	0.200549453568426	0	0	HPO
1759	DNM1	C0595948	Atypical absence seizure	0.2	0	0	HPO
1759	DNM1	C0746940	nonverbal	0.2	0	0	HPO
1759	DNM1	C0856975	Autistic behavior	0.2	0	0	HPO
1759	DNM1	C0917816	Mental deficiency	0.2	0	0	HPO
1759	DNM1	C1457883	Aggressive reaction	0.2	0	0	HPO
1759	DNM1	C1510586	Autism Spectrum Disorders	0.2	0	0	HPO
1759	DNM1	C1836508	Hypertonic seizures	0.2	0	0	HPO
1759	DNM1	C1836509	Hypotonic seizures	0.2	0	0	HPO
1759	DNM1	C1836550	Loss of developmental milestones	0.2	0	0	HPO
1759	DNM1	C1836830	Developmental regression	0.2	0	0	HPO
1759	DNM1	C1843367	Poor school performance	0.2	0	0	HPO
1759	DNM1	C1850493	Psychomotor regression, progressive	0.2	0	0	HPO
1759	DNM1	C1850601	Brainstem abnormalities	0.2	0	0	HPO
1759	DNM1	C1854882	Absent speech	0.2	0	0	HPO
1759	DNM1	C1855009	Psychomotor regression in infants	0.2	0	0	HPO
1759	DNM1	C1855019	Psychomotor regression	0.2	0	0	HPO
1759	DNM1	C1855996	Psychomotor regression beginning in infancy	0.2	0	0	HPO
1759	DNM1	C1857121	Neurodevelopmental regression	0.2	0	0	HPO
1759	DNM1	C1859678	Mental deterioration in childhood	0.2	0	0	HPO
1759	DNM1	C3714756	Intellectual Disability	0.2	0	0	HPO
1759	DNM1	C4020876	Dull intelligence	0.2	0	0	HPO
1759	DNM1	C4023479	EEG with focal sharp slow waves	0.2	0	0	HPO
1759	DNM1	C4225357	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	0.2	2	6	UNIPROT
176	ACAN	C0003873	Rheumatoid Arthritis	0.20761248204602	1	0	CTD_human
176	ACAN	C0025995	Micromelia	0.200274726784213	0	0	HPO
176	ACAN	C0029408	Degenerative polyarthritis	0.295919798107043	0	0	HPO
176	ACAN	C0029421	Osteochondritis Dissecans	0.200274726784213	0	0	HPO
176	ACAN	C0032273	Pneumoconiosis	0.2	1	0	CTD_human
176	ACAN	C0038015	Spondyloepiphyseal Dysplasia	0.200549453568426	0	0	HPO
176	ACAN	C0221357	Brachydactyly	0.2	0	0	HPO
176	ACAN	C0231712	Waddling gait	0.2	0	0	HPO
176	ACAN	C0238288	Muscular Dystrophy, Facioscapulohumeral	0.2	1	0	CTD_human
176	ACAN	C0262361	abnormal growth	0.2	0	0	HPO
176	ACAN	C0349588	Short stature	0.2	0	0	HPO
176	ACAN	C0426789	Short thorax	0.2	0	0	HPO
176	ACAN	C0431890	Hypoplasia of thumb	0.2	0	0	HPO
176	ACAN	C0432211	Spondyloepimetaphyseal disorder	0.2	0	0	HPO
176	ACAN	C0541764	Delayed bone age	0.2	0	0	HPO
176	ACAN	C0544755	Genu varum	0.2	0	0	HPO
176	ACAN	C0576093	Knee joint valgus deformity	0.2	0	0	HPO
176	ACAN	C0878660	Proportionate short stature	0.2	0	0	HPO
176	ACAN	C1442903	Exostoses	0.2	0	0	HPO
176	ACAN	C1842149	Spondyloepiphyseal Dysplasia, Kimberley Type	0.4	0	0	CTD_human;ORPHANET
176	ACAN	C1842155	Flat proximal femoral epiphyses	0.2	0	0	HPO
176	ACAN	C1844704	Platyspondyly	0.2	0	0	HPO
176	ACAN	C1848980	Developmental arrest	0.2	0	0	HPO
176	ACAN	C1853242	Midface retrusion	0.2	0	0	HPO
176	ACAN	C2673410	Small midface	0.2	0	0	HPO
176	ACAN	C2748544	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	0.6	1	1	CTD_human;ORPHANET;UNIPROT
176	ACAN	C3665488	Familial Osteochondritis Dissecans	0.600274726784213	1	0	CTD_human;ORPHANET;UNIPROT
176	ACAN	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
176	ACAN	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
176	ACAN	C4280320	Hypotrophic midface	0.2	0	0	HPO
176	ACAN	C4280321	Decreased projection of midface	0.2	0	0	HPO
1760	DMPK	C0008350	Cholelithiasis	0.2	0	0	HPO
1760	DMPK	C0011168	Deglutition Disorders	0.2	0	0	HPO
1760	DMPK	C0014130	Endocrine System Diseases	0.2	0	0	HPO
1760	DMPK	C0020224	Polyhydramnios	0.2	0	0	HPO
1760	DMPK	C0020619	Hypogonadism	0.200549453568426	0	0	HPO
1760	DMPK	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1760	DMPK	C0026827	Muscle hypotonia	0.2	0	0	HPO
1760	DMPK	C0027125	Myotonia	0.4	1	0	CTD_human;HPO
1760	DMPK	C0027126	Myotonic Dystrophy	0.329024155769426	1	0	CTD_human
1760	DMPK	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
1760	DMPK	C0085614	First degree atrioventricular block	0.2	0	0	HPO
1760	DMPK	C0086543	Cataract	0.205638237399215	0	0	HPO
1760	DMPK	C0151786	Muscle Weakness	0.200274726784213	0	0	HPO
1760	DMPK	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1760	DMPK	C0156312	Atrophy of testis	0.2	0	0	HPO
1760	DMPK	C0234958	muscle degeneration	0.2	0	0	HPO
1760	DMPK	C0235659	Reduced fetal movement	0.2	0	0	HPO
1760	DMPK	C0235946	Cerebral atrophy	0.2	0	0	HPO
1760	DMPK	C0270948	Neurogenic Muscular Atrophy	0.2	0	0	HPO
1760	DMPK	C0376175	Bell Palsy	0.2	0	0	HPO
1760	DMPK	C0424448	Mask-like facies	0.2	0	0	HPO
1760	DMPK	C0427055	Facial Paresis	0.2	0	0	HPO
1760	DMPK	C0476273	Respiratory distress	0.2	0	0	HPO
1760	DMPK	C0476403	Electromyogram abnormal	0.2	0	0	HPO
1760	DMPK	C0541794	Skeletal muscle atrophy	0.2	0	0	HPO
1760	DMPK	C0694563	Excessive daytime somnolence	0.2	0	0	HPO
1760	DMPK	C1510497	Lens Opacities	0.2	0	0	HPO
1760	DMPK	C1834433	Obsessive-compulsive trait	0.2	0	0	HPO
1760	DMPK	C1836003	Facial diplegia	0.2	0	0	HPO
1760	DMPK	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	0	0	HPO
1760	DMPK	C1846149	Progressive mental retardation	0.2	0	0	HPO
1760	DMPK	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1760	DMPK	C1864584	Frontal balding (male pattern baldness)	0.2	0	0	HPO
1760	DMPK	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1760	DMPK	C3250443	MYOTONIC DYSTROPHY 1	0.290989071368524	0	0	ORPHANET
1760	DMPK	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1760	DMPK	C4023397	Abnormal hair quantity	0.2	0	0	HPO
1760	DMPK	C4025823	Abnormality of the endocrine system	0.2	0	0	HPO
1760	DMPK	C4049796	Abnormality of cardiovascular system morphology	0.2	0	0	HPO
1760	DMPK	C4083212	Alopecia, Male Pattern	0.2	0	0	HPO
1761	DMRT1	C0027658	Neoplasms, Germ Cell and Embryonal	0.202407028523288	1	0	CTD_human
1761	DMRT1	C0032460	Polycystic Ovary Syndrome	0.2	0	0	HPO
1761	DMRT1	C0039590	Testicular Neoplasms	0.2	1	0	CTD_human
1761	DMRT1	C0238395	Male Pseudohermaphroditism	0.2	0	0	HPO
1761	DMRT1	C0271623	Hypogonadotropic hypogonadism	0.2	0	0	HPO
1761	DMRT1	C0302885	Testicular dysgenesis	0.2	0	0	HPO
1761	DMRT1	C1136382	Sclerocystic Ovaries	0.2	0	0	HPO
1761	DMRT1	C2936694	Swyer Syndrome	0.2	0	0	ORPHANET
1761	DMRT1	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
1763	DNA2	C0005745	Blepharoptosis	0.2	0	0	HPO
1763	DNA2	C0025362	Mental Retardation	0.2	0	0	HPO
1763	DNA2	C0025990	Micrognathism	0.2	0	0	HPO
1763	DNA2	C0026821	Muscle Cramp	0.2	0	0	HPO
1763	DNA2	C0037926	Compression of spinal cord	0.2	0	0	HPO
1763	DNA2	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1763	DNA2	C0162674	Chronic progressive external ophthalmoplegia	0.2	0	0	HPO
1763	DNA2	C0231528	Myalgia	0.2	0	0	HPO
1763	DNA2	C0231807	Dyspnea on exertion	0.2	0	0	HPO
1763	DNA2	C0234182	Gowers sign	0.2	0	0	HPO
1763	DNA2	C0238207	Ectopic kidney	0.2	0	0	HPO
1763	DNA2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1763	DNA2	C0240538	Convex nasal ridge	0.2	0	0	HPO
1763	DNA2	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1763	DNA2	C0349588	Short stature	0.2	0	0	HPO
1763	DNA2	C0376175	Bell Palsy	0.2	0	0	HPO
1763	DNA2	C0423903	Low intelligence	0.2	0	0	HPO
1763	DNA2	C0424551	Impaired exercise tolerance	0.2	0	0	HPO
1763	DNA2	C0424688	Small head	0.2	0	0	HPO
1763	DNA2	C0427055	Facial Paresis	0.2	0	0	HPO
1763	DNA2	C0557874	Global developmental delay	0.2	0	0	HPO
1763	DNA2	C0575071	Gowers sign present	0.2	0	0	HPO
1763	DNA2	C0575081	Gait abnormality	0.2	0	0	HPO
1763	DNA2	C0575158	Kyphoscoliosis deformity of spine	0.2	0	0	HPO
1763	DNA2	C0917816	Mental deficiency	0.2	0	0	HPO
1763	DNA2	C1389113	Generalized amyotrophy	0.2	0	0	HPO
1763	DNA2	C1843367	Poor school performance	0.2	0	0	HPO
1763	DNA2	C1850573	Slender build	0.2	0	0	HPO
1763	DNA2	C1854494	Slow progression	0.2	0	0	HPO
1763	DNA2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1763	DNA2	C1858127	Limb-girdle muscle weakness	0.2	0	0	HPO
1763	DNA2	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1763	DNA2	C1864897	Cognitive delay	0.2	0	0	HPO
1763	DNA2	C3554599	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6	0.4	1	2	ORPHANET;UNIPROT
1763	DNA2	C3714756	Intellectual Disability	0.2	0	0	HPO
1763	DNA2	C4020875	Mental and motor retardation	0.2	0	0	HPO
1763	DNA2	C4020876	Dull intelligence	0.2	0	0	HPO
1763	DNA2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1767	DNAH5	C0004096	Asthma	0.2	1	0	CTD_human
1767	DNAH5	C0008780	Ciliary Motility Disorders	0.405754907091158	0	0	HPO;ORPHANET
1767	DNAH5	C0022521	Kartagener Syndrome	0.213041505195652	0	0	ORPHANET
1767	DNAH5	C0037221	Situs Inversus	0.2	0	0	HPO
1767	DNAH5	C0266642	Situs ambiguus	0.200549453568426	0	0	HPO
1767	DNAH5	C1837618	CILIARY DYSKINESIA, PRIMARY, 3	0.48	3	16	CTD_human;UNIPROT
1767	DNAH5	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1767	DNAH5	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1769	DNAH8	C0005586	Bipolar Disorder	0.201373633921065	4	0	PSYGENET
1769	DNAH8	C0236736	Cocaine-Related Disorders	0.2	1	0	CTD_human
1769	DNAH8	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1769	DNAH8	C0338831	Manic	0.2	2	0	PSYGENET
1769	DNAH8	C1456784	Paranoia	0.2	1	0	CTD_human
177	AGER	C0003873	Rheumatoid Arthritis	0.209572371315507	1	0	CTD_human
177	AGER	C0004153	Atherosclerosis	0.298232603341066	2	0	CTD_human
177	AGER	C0011875	Diabetic Angiopathies	0.210396551668146	1	0	CTD_human
177	AGER	C0020429	Hyperalgesia	0.28	1	0	CTD_human
177	AGER	C0020456	Hyperglycemia	0.201923087489492	1	0	CTD_human
177	AGER	C0020564	Hypertrophy	0.2	1	0	CTD_human
177	AGER	C0021368	Inflammation	0.202732912464814	1	0	CTD_human
177	AGER	C0027796	Neuralgia	0.2	1	0	CTD_human
177	AGER	C0029408	Degenerative polyarthritis	0.286839458850693	1	0	CTD_human
177	AGER	C0030286	Pancreatic Diseases	0.2	1	0	CTD_human
177	AGER	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
177	AGER	C0752347	Lewy Body Disease	0.2	1	0	CTD_human
1773	DNASE1	C0024141	Lupus Erythematosus, Systemic	0.2946243533663	0	0	CTD_human
1773	DNASE1	C0033687	Proteinuria	0.2	1	0	CTD_human
1776	DNASE1L3	C0000737	Abdominal Pain	0.2	0	0	HPO
1776	DNASE1L3	C0002994	Angioedema	0.2	0	0	HPO
1776	DNASE1L3	C0003864	Arthritis	0.2	0	0	HPO
1776	DNASE1L3	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
1776	DNASE1L3	C0004364	Autoimmune Diseases	0.2	0	0	HPO
1776	DNASE1L3	C0009763	Conjunctivitis	0.2	0	0	HPO
1776	DNASE1L3	C0010200	Coughing	0.2	0	0	HPO
1776	DNASE1L3	C0013404	Dyspnea	0.2	0	0	HPO
1776	DNASE1L3	C0014583	Episcleritis	0.2	0	0	HPO
1776	DNASE1L3	C0015230	Exanthema	0.2	0	0	HPO
1776	DNASE1L3	C0018965	Hematuria	0.2	0	0	HPO
1776	DNASE1L3	C0019079	Hemoptysis	0.2	0	0	HPO
1776	DNASE1L3	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1776	DNASE1L3	C0024141	Lupus Erythematosus, Systemic	0.400824180352639	1	0	CTD_human;HPO
1776	DNASE1L3	C0027498	Nausea and vomiting	0.2	0	0	HPO
1776	DNASE1L3	C0027697	Nephritis	0.2	0	0	HPO
1776	DNASE1L3	C0033687	Proteinuria	0.2	0	0	HPO
1776	DNASE1L3	C0033774	Pruritus	0.2	0	0	HPO
1776	DNASE1L3	C0035078	Kidney Failure	0.2	0	0	HPO
1776	DNASE1L3	C0042164	Uveitis	0.2	0	0	HPO
1776	DNASE1L3	C0268731	Renal glomerular disease	0.2	0	0	HPO
1776	DNASE1L3	C0272242	Complement deficiency disease	0.2	0	0	HPO
1776	DNASE1L3	C0343206	Hypocomplementemic urticarial vasculitis	0.200274726784213	0	0	ORPHANET
1776	DNASE1L3	C1565489	Renal Insufficiency	0.2	0	0	HPO
1776	DNASE1L3	C1839604	Renal failure in adulthood	0.2	0	0	HPO
1776	DNASE1L3	C1860236	Irregular hyperpigmentation	0.2	0	0	HPO
1776	DNASE1L3	C1864156	Conjunctivitis, recurrent	0.2	0	0	HPO
1776	DNASE1L3	C3280742	SYSTEMIC LUPUS ERYTHEMATOSUS 16	0.2	0	0	ORPHANET
1776	DNASE1L3	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1776	DNASE1L3	C4023113	Small vessel vasculitis	0.2	0	0	HPO
1778	DYNC1H1	C0014544	Epilepsy	0.2	0	0	HPO
1778	DYNC1H1	C0016506	Foot Deformities	0.2	0	0	HPO
1778	DYNC1H1	C0020580	Hypesthesia	0.2	0	0	HPO
1778	DYNC1H1	C0025362	Mental Retardation	0.200549453568426	0	0	HPO
1778	DYNC1H1	C0025958	Microcephaly	0.2	1	0	CTD_human
1778	DYNC1H1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1778	DYNC1H1	C0026847	Spinal Muscular Atrophy	0.202197814273705	0	0	HPO
1778	DYNC1H1	C0036572	Seizures	0.2	0	0	HPO
1778	DYNC1H1	C0231712	Waddling gait	0.2	0	0	HPO
1778	DYNC1H1	C0265529	Plagiocephaly	0.2	0	0	HPO
1778	DYNC1H1	C0266483	Pachygyria	0.200274726784213	0	0	HPO
1778	DYNC1H1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1778	DYNC1H1	C0423903	Low intelligence	0.2	0	0	HPO
1778	DYNC1H1	C0424688	Small head	0.2	0	0	HPO
1778	DYNC1H1	C0427065	Distal muscle weakness	0.2	0	0	HPO
1778	DYNC1H1	C0560346	Difficulty running	0.2	0	0	HPO
1778	DYNC1H1	C0575081	Gait abnormality	0.2	0	0	HPO
1778	DYNC1H1	C0587246	Muscle weakness of limb	0.2	0	0	HPO
1778	DYNC1H1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1778	DYNC1H1	C0728829	Congenital pes cavus	0.2	0	0	HPO
1778	DYNC1H1	C0751495	Seizures, Focal	0.2	0	0	HPO
1778	DYNC1H1	C0850703	Frequent falls	0.2	0	0	HPO
1778	DYNC1H1	C0917816	Mental deficiency	0.2	0	0	HPO
1778	DYNC1H1	C1450010	Plagiocephaly, Nonsynostotic	0.2	0	0	HPO
1778	DYNC1H1	C1834690	Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	0.400274726784213	2	7	ORPHANET;UNIPROT
1778	DYNC1H1	C1836767	Proximal lower limb muscle atrophy	0.2	0	0	HPO
1778	DYNC1H1	C1837260	Prominent forehead	0.2	0	0	HPO
1778	DYNC1H1	C1837352	Childhood onset	0.2	0	0	HPO
1778	DYNC1H1	C1837514	Phenotypic variability	0.2	0	0	HPO
1778	DYNC1H1	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1778	DYNC1H1	C1843367	Poor school performance	0.2	0	0	HPO
1778	DYNC1H1	C1847584	Distal sensory impairment	0.2	0	0	HPO
1778	DYNC1H1	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1778	DYNC1H1	C1854301	Motor delay	0.2	0	0	HPO
1778	DYNC1H1	C1854494	Slow progression	0.2	0	0	HPO
1778	DYNC1H1	C1858729	Decreased motor NCV	0.2	0	0	HPO
1778	DYNC1H1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1778	DYNC1H1	C1866010	Proximal muscle weakness in lower limbs	0.2	0	0	HPO
1778	DYNC1H1	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1778	DYNC1H1	C1867446	Bulging forehead	0.2	0	0	HPO
1778	DYNC1H1	C1955869	Malformations of Cortical Development	0.200549453568426	1	0	CTD_human
1778	DYNC1H1	C3277184	Decreased patellar reflexes	0.2	0	0	HPO
1778	DYNC1H1	C3277187	Type 2 muscle fiber predominance	0.2	0	0	HPO
1778	DYNC1H1	C3280220	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O	0.4	4	2	ORPHANET;UNIPROT
1778	DYNC1H1	C3281202	MENTAL RETARDATION, AUTOSOMAL DOMINANT 13	0.2	4	11	UNIPROT
1778	DYNC1H1	C3714756	Intellectual Disability	0.401373633921066	1	0	CTD_human;HPO
1778	DYNC1H1	C4020874	No development of motor milestones	0.2	0	0	HPO
1778	DYNC1H1	C4020876	Dull intelligence	0.2	0	0	HPO
1778	DYNC1H1	C4021727	EMG: neuropathic changes	0.2	0	0	HPO
1778	DYNC1H1	C4072830	Asymmetry of the posterior cranium	0.2	0	0	HPO
1778	DYNC1H1	C4280597	Rhomboid shaped head	0.2	0	0	HPO
1778	DYNC1H1	C4280598	Flattening of head	0.2	0	0	HPO
1778	DYNC1H1	C4280807	Flattening of cranial vault	0.2	0	0	HPO
178	AGL	C0014306	Enophthalmos	0.2	0	0	HPO
178	AGL	C0017922	Glycogen Storage Disease Type III	0.701594837286253	4	70	CTD_human;ORPHANET;UNIPROT
178	AGL	C0019209	Hepatomegaly	0.2	0	0	HPO
178	AGL	C0020473	Hyperlipidemia	0.2	0	0	HPO
178	AGL	C0020615	Hypoglycemia	0.200549453568426	0	0	HPO
178	AGL	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
178	AGL	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
178	AGL	C0026106	Mild Mental Retardation	0.2	0	0	HPO
178	AGL	C0026848	Myopathy	0.200274726784213	0	0	HPO
178	AGL	C0086565	Liver Dysfunction	0.2	0	0	HPO
178	AGL	C0151576	Elevated creatine kinase	0.2	0	0	HPO
178	AGL	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
178	AGL	C0151786	Muscle Weakness	0.2	0	0	HPO
178	AGL	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
178	AGL	C0239946	Fibrosis, Liver	0.2	0	0	HPO
178	AGL	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
178	AGL	C0340279	Ventricular hypertrophy	0.2	0	0	HPO
178	AGL	C0349588	Short stature	0.2	0	0	HPO
178	AGL	C0423224	Sunken eyes	0.2	0	0	HPO
178	AGL	C0426429	Broad nasal tip	0.2	0	0	HPO
178	AGL	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
178	AGL	C0438717	Transaminases increased	0.2	0	0	HPO
178	AGL	C0877359	Liver function test increased	0.2	0	0	HPO
178	AGL	C0878544	Cardiomyopathies	0.200274726784213	0	0	HPO
178	AGL	C1522137	Hypertriglyceridemia result	0.2	0	0	HPO
178	AGL	C1836542	Depressed nasal bridge	0.2	0	0	HPO
178	AGL	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
178	AGL	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
178	AGL	C1848736	Distal amyotrophy	0.2	0	0	HPO
178	AGL	C1853242	Midface retrusion	0.2	0	0	HPO
178	AGL	C1858085	Malar flattening	0.2	0	0	HPO
178	AGL	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
178	AGL	C1866231	Full cheeks	0.2	0	0	HPO
178	AGL	C2673410	Small midface	0.2	0	0	HPO
178	AGL	C2748653	Chubby cheeks	0.2	0	0	HPO
178	AGL	C2936915	Amylo-1,6-glucosidase deficiency	0.2	0	0	ORPHANET
178	AGL	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
178	AGL	C3806443	Puffy cheeks	0.2	0	0	HPO
178	AGL	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
178	AGL	C4280320	Hypotrophic midface	0.2	0	0	HPO
178	AGL	C4280321	Decreased projection of midface	0.2	0	0	HPO
178	AGL	C4280495	Concave bridge of nose	0.2	0	0	HPO
178	AGL	C4280647	Hypertrophy of cheeks	0.2	0	0	HPO
178	AGL	C4280648	Hyperplasia of cheeks	0.2	0	0	HPO
178	AGL	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1780	DYNC1I1	C0031117	Peripheral Neuropathy	0.200274726784213	1	0	CTD_human
1783	DYNC1LI2	C0043094	Weight Gain	0.2	1	0	CTD_human
1785	DNM2	C0005745	Blepharoptosis	0.200274726784213	0	0	HPO
1785	DNM2	C0009917	Contracture	0.200274726784213	0	0	HPO
1785	DNM2	C0009918	Contracture of joint	0.2	0	0	HPO
1785	DNM2	C0020224	Polyhydramnios	0.2	0	0	HPO
1785	DNM2	C0024032	Low Birth Weights	0.2	0	0	HPO
1785	DNM2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1785	DNM2	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1785	DNM2	C0035317	Retinal Hemorrhage	0.2	0	0	HPO
1785	DNM2	C0151576	Elevated creatine kinase	0.2	0	0	HPO
1785	DNM2	C0162292	External Ophthalmoplegia	0.2	0	0	HPO
1785	DNM2	C0162674	Chronic progressive external ophthalmoplegia	0.2	0	0	HPO
1785	DNM2	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1785	DNM2	C0234146	Absent reflex	0.2	0	0	HPO
1785	DNM2	C0235659	Reduced fetal movement	0.2	0	0	HPO
1785	DNM2	C0235991	Small for gestational age (disorder)	0.2	0	0	HPO
1785	DNM2	C0241005	Creatine phosphokinase serum increased	0.2	0	0	HPO
1785	DNM2	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1785	DNM2	C0278124	Absent tendon reflex	0.2	0	0	HPO
1785	DNM2	C0332878	Congenital joint contractures	0.2	0	0	HPO
1785	DNM2	C0333068	Flexion contracture	0.2	0	0	HPO
1785	DNM2	C0376175	Bell Palsy	0.2	0	0	HPO
1785	DNM2	C0424585	Tires quickly	0.2	0	0	HPO
1785	DNM2	C0426818	Thin rib	0.2	0	0	HPO
1785	DNM2	C0427055	Facial Paresis	0.2	0	0	HPO
1785	DNM2	C0427065	Distal muscle weakness	0.2	0	0	HPO
1785	DNM2	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1785	DNM2	C0728829	Congenital pes cavus	0.200274726784213	0	0	HPO
1785	DNM2	C0752282	Congenital Structural Myopathy	0.208473464178654	1	0	CTD_human
1785	DNM2	C1834558	Myopathy, Centronuclear, Autosomal Dominant	0.683846174978983	9	9	CTD_human;ORPHANET;UNIPROT
1785	DNM2	C1837098	Easy fatigability	0.2	0	0	HPO
1785	DNM2	C1837496	Axonal degeneration	0.2	0	0	HPO
1785	DNM2	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1785	DNM2	C1842170	Centrally nucleated skeletal muscle fibers	0.2	0	0	HPO
1785	DNM2	C1843077	Segmental demyelination/remyelination	0.2	0	0	HPO
1785	DNM2	C1844947	Death in early childhood	0.2	0	0	HPO
1785	DNM2	C1847584	Distal sensory impairment	0.2	0	0	HPO
1785	DNM2	C1847902	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	0.600274726784213	4	5	CTD_human;ORPHANET;UNIPROT
1785	DNM2	C1847906	Onion bulb formation	0.2	0	0	HPO
1785	DNM2	C1848736	Distal amyotrophy	0.2	0	0	HPO
1785	DNM2	C1850530	Flexion contractures of joints	0.2	0	0	HPO
1785	DNM2	C1854301	Motor delay	0.2	0	0	HPO
1785	DNM2	C1854494	Slow progression	0.2	0	0	HPO
1785	DNM2	C1858285	Decreased number of large and small myelinated fibers	0.2	0	0	HPO
1785	DNM2	C1858430	Death in infancy	0.2	0	0	HPO
1785	DNM2	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	0	0	HPO
1785	DNM2	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1785	DNM2	C2752013	Prenatal onset	0.2	0	0	HPO
1785	DNM2	C3809272	LETHAL CONGENITAL CONTRACTURE SYNDROME 5	0.4	1	1	ORPHANET;UNIPROT
1785	DNM2	C4020855	Respiratory function loss	0.2	0	0	HPO
1785	DNM2	C4020874	No development of motor milestones	0.2	0	0	HPO
1785	DNM2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1785	DNM2	C4025214	Sleepy facial expression	0.2	0	0	HPO
1786	DNMT1	C0001418	Adenocarcinoma	0.20328236603324	1	0	CTD_human
1786	DNMT1	C0003469	Anxiety Disorders	0.2	1	0	CTD_human
1786	DNMT1	C0004096	Asthma	0.2	1	0	CTD_human
1786	DNMT1	C0005586	Bipolar Disorder	0.200824180352639	2	0	PSYGENET
1786	DNMT1	C0007384	Cataplexy	0.2	0	0	HPO
1786	DNMT1	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1786	DNMT1	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1786	DNMT1	C0011581	Depressive disorder	0.2	0	0	HPO
1786	DNMT1	C0018784	Sensorineural Hearing Loss (disorder)	0.200274726784213	0	0	HPO
1786	DNMT1	C0021125	Impulsive Behavior	0.2	0	0	HPO
1786	DNMT1	C0025149	Medulloblastoma	0.2	1	0	CTD_human
1786	DNMT1	C0026838	Muscle Spasticity	0.2	0	0	HPO
1786	DNMT1	C0027404	Narcolepsy	0.201648360705279	0	0	HPO
1786	DNMT1	C0027889	Hereditary Sensory and Autonomic Neuropathies	0.201373633921065	1	0	CTD_human
1786	DNMT1	C0029443	Osteomyelitis	0.2	0	0	HPO
1786	DNMT1	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1786	DNMT1	C0036341	Schizophrenia	0.208762546340185	4	0	PSYGENET
1786	DNMT1	C0038356	Stomach Neoplasms	0.205139940988102	2	0	CTD_human
1786	DNMT1	C0085632	Apathy	0.2	0	0	HPO
1786	DNMT1	C0151313	Sensory neuropathy	0.200274726784213	0	0	HPO
1786	DNMT1	C0151889	Hyperreflexia	0.2	0	0	HPO
1786	DNMT1	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1786	DNMT1	C0233794	Memory impairment	0.2	0	0	HPO
1786	DNMT1	C0235946	Cerebral atrophy	0.2	0	0	HPO
1786	DNMT1	C0262404	Cerebellar degeneration	0.2	0	0	HPO
1786	DNMT1	C0282612	Prostatic Intraepithelial Neoplasias	0.200274726784213	1	0	CTD_human
1786	DNMT1	C0497327	Dementia	0.401373633921066	1	0	CTD_human;HPO
1786	DNMT1	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1786	DNMT1	C0542476	Forgetful	0.2	0	0	HPO
1786	DNMT1	C0694563	Excessive daytime somnolence	0.2	0	0	HPO
1786	DNMT1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
1786	DNMT1	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
1786	DNMT1	C0751295	Memory Loss	0.2	0	0	HPO
1786	DNMT1	C0993582	Arthritis, Experimental	0.2	1	0	CTD_human
1786	DNMT1	C1384666	hearing impairment	0.2	1	0	CTD_human
1786	DNMT1	C1458155	Mammary Neoplasms	0.207872853452916	1	0	CTD_human
1786	DNMT1	C1838319	Primitive reflexes (palmomental, snout, glabellar)	0.2	0	0	HPO
1786	DNMT1	C1853562	Adult onset	0.2	0	0	HPO
1786	DNMT1	C1858285	Decreased number of large and small myelinated fibers	0.2	0	0	HPO
1786	DNMT1	C1864985	Progressive disorder	0.2	0	0	HPO
1786	DNMT1	C2242472	Infection of bone	0.2	0	0	HPO
1786	DNMT1	C2700617	Irritation - emotion	0.2	0	0	HPO
1786	DNMT1	C2830004	Somnolence	0.2	0	0	HPO
1786	DNMT1	C3279885	Hereditary Sensory and Autonomic Neuropathy Type Ie	0.400274726784213	1	3	ORPHANET;UNIPROT
1786	DNMT1	C3807295	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	0.401373633921066	1	3	ORPHANET;UNIPROT
1786	DNMT1	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1786	DNMT1	C4020873	Infratentorial atrophy	0.2	0	0	HPO
1788	DNMT3A	C0005744	Blepharophimosis	0.2	0	0	HPO
1788	DNMT3A	C0010346	Crohn Disease	0.2	1	1	CTD_human
1788	DNMT3A	C0018273	Growth Disorders	0.2	1	0	CTD_human
1788	DNMT3A	C0020981	Angioimmunoblastic Lymphadenopathy	0.200824180352639	1	0	CTD_human
1788	DNMT3A	C0023465	Acute monocytic leukemia	0.200274726784213	1	0	CTD_human
1788	DNMT3A	C0023487	Acute Promyelocytic Leukemia	0.200549453568426	1	0	CTD_human
1788	DNMT3A	C0024121	Lung Neoplasms	0.28328236603324	1	0	CTD_human
1788	DNMT3A	C0027643	Neoplasm Recurrence, Local	0.2	1	0	CTD_human
1788	DNMT3A	C0036920	Sezary Syndrome	0.2	1	0	CTD_human
1788	DNMT3A	C0079773	Lymphoma, T-Cell, Cutaneous	0.2	1	0	CTD_human
1788	DNMT3A	C0079774	Peripheral T-Cell Lymphoma	0.2	2	0	CTD_human
1788	DNMT3A	C0239479	Round face	0.2	0	0	HPO
1788	DNMT3A	C0241240	Tall stature	0.2	0	0	HPO
1788	DNMT3A	C0282631	Facies	0.2	1	0	CTD_human
1788	DNMT3A	C0349639	Juvenile Myelomonocytic Leukemia	0.200274726784213	1	0	CTD_human
1788	DNMT3A	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1788	DNMT3A	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1788	DNMT3A	C1510586	Autism Spectrum Disorders	0.2	1	0	CTD_human
1788	DNMT3A	C1856468	Round, full face	0.2	0	0	HPO
1788	DNMT3A	C3496069	cocaine use	0.2	1	0	PSYGENET
1788	DNMT3A	C3714756	Intellectual Disability	0.200274726784213	1	0	CTD_human
1788	DNMT3A	C4014545	TATTON-BROWN-RAHMAN SYNDROME	0.400274726784213	1	10	ORPHANET;UNIPROT
1788	DNMT3A	C4083076	Increased head circumference	0.2	0	0	HPO
1788	DNMT3A	C4255213	Increased size of skull	0.2	0	0	HPO
1788	DNMT3A	C4280663	Increased size of cranium	0.2	0	0	HPO
1788	DNMT3A	C4280664	Big calvaria	0.2	0	0	HPO
1789	DNMT3B	C0002871	Anemia	0.2	0	0	HPO
1789	DNMT3B	C0006267	Bronchiectasis	0.2	0	0	HPO
1789	DNMT3B	C0008677	Bronchitis, Chronic	0.2	0	0	HPO
1789	DNMT3B	C0009451	Communicating Hydrocephalus	0.2	0	0	HPO
1789	DNMT3B	C0011991	Diarrhea	0.2	0	0	HPO
1789	DNMT3B	C0020534	Orbital separation excessive	0.2	0	0	HPO
1789	DNMT3B	C0021051	Immunologic Deficiency Syndromes	0.401098907136852	1	0	CTD_human;HPO
1789	DNMT3B	C0024312	Lymphopenia	0.2	0	0	HPO
1789	DNMT3B	C0024421	Macroglossia	0.2	0	0	HPO
1789	DNMT3B	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1789	DNMT3B	C0025990	Micrognathism	0.2	0	0	HPO
1789	DNMT3B	C0030469	Paranasal Sinus Diseases	0.2	0	0	HPO
1789	DNMT3B	C0032285	Pneumonia	0.2	0	0	HPO
1789	DNMT3B	C0033578	Prostatic Neoplasms	0.202732912464814	1	0	CTD_human
1789	DNMT3B	C0036341	Schizophrenia	0.205088783830789	1	0	PSYGENET
1789	DNMT3B	C0037199	Sinusitis	0.2	0	0	HPO
1789	DNMT3B	C0038356	Stomach Neoplasms	0.202732912464814	1	0	CTD_human
1789	DNMT3B	C0086438	Hypogammaglobulinemia	0.2	0	0	HPO
1789	DNMT3B	C0162119	Hemoglobin low	0.2	0	0	HPO
1789	DNMT3B	C0231246	Failure to gain weight	0.2	0	0	HPO
1789	DNMT3B	C0239234	Low set ears	0.2	0	0	HPO
1789	DNMT3B	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1789	DNMT3B	C0241442	Protrusion of tongue	0.2	0	0	HPO
1789	DNMT3B	C0349588	Short stature	0.2	0	0	HPO
1789	DNMT3B	C0376628	Chromosome Breakage	0.2	0	0	HPO
1789	DNMT3B	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1789	DNMT3B	C0398788	Immunodeficiency syndrome, variable	0.480549453568426	10	10	CTD_human;UNIPROT
1789	DNMT3B	C0423903	Low intelligence	0.2	0	0	HPO
1789	DNMT3B	C0426414	Small nose	0.2	0	0	HPO
1789	DNMT3B	C0427515	Neutrophil abnormality	0.2	0	0	HPO
1789	DNMT3B	C0525045	Mood Disorders	0.200274726784213	1	0	PSYGENET
1789	DNMT3B	C0557874	Global developmental delay	0.2	0	0	HPO
1789	DNMT3B	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1789	DNMT3B	C0917816	Mental deficiency	0.2	0	0	HPO
1789	DNMT3B	C1458155	Mammary Neoplasms	0.206015278498054	2	0	CTD_human
1789	DNMT3B	C1510586	Autism Spectrum Disorders	0.2	1	0	CTD_human
1789	DNMT3B	C1656427	early onset schizophrenia	0.200274726784213	1	0	PSYGENET
1789	DNMT3B	C1834671	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	0.2	1	0	UNIPROT
1789	DNMT3B	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1789	DNMT3B	C1840077	Anteverted nostril	0.2	0	0	HPO
1789	DNMT3B	C1843367	Poor school performance	0.2	0	0	HPO
1789	DNMT3B	C1853241	Flat face	0.2	0	0	HPO
1789	DNMT3B	C1854114	Short nose	0.2	0	0	HPO
1789	DNMT3B	C1855204	Cellular immunodeficiency	0.2	0	0	HPO
1789	DNMT3B	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1789	DNMT3B	C1858085	Malar flattening	0.2	0	0	HPO
1789	DNMT3B	C1859424	Increased chromosomal breakage	0.2	0	0	HPO
1789	DNMT3B	C1864897	Cognitive delay	0.2	0	0	HPO
1789	DNMT3B	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1789	DNMT3B	C2931322	T-Lymphocytopenia	0.2	0	0	HPO
1789	DNMT3B	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1789	DNMT3B	C3714745	Malabsorption	0.2	0	0	HPO
1789	DNMT3B	C3714756	Intellectual Disability	0.200549453568426	0	0	HPO
1789	DNMT3B	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1789	DNMT3B	C4020875	Mental and motor retardation	0.2	0	0	HPO
1789	DNMT3B	C4020876	Dull intelligence	0.2	0	0	HPO
1789	DNMT3B	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1789	DNMT3B	C4048270	Decreased antibody level in blood	0.2	0	0	HPO
1789	DNMT3B	C4083076	Increased head circumference	0.2	0	0	HPO
1789	DNMT3B	C4255213	Increased size of skull	0.2	0	0	HPO
1789	DNMT3B	C4280495	Concave bridge of nose	0.2	0	0	HPO
1789	DNMT3B	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1789	DNMT3B	C4280663	Increased size of cranium	0.2	0	0	HPO
1789	DNMT3B	C4280664	Big calvaria	0.2	0	0	HPO
1793	DOCK1	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1794	DOCK2	C0021051	Immunologic Deficiency Syndromes	0.2	0	0	HPO
1794	DOCK2	C0279628	Adenocarcinoma Of Esophagus	0.2	1	0	CTD_human
1794	DOCK2	C2752013	Prenatal onset	0.2	0	0	HPO
1794	DOCK2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1794	DOCK2	C4225328	IMMUNODEFICIENCY 40	0.4	1	2	ORPHANET;UNIPROT
1798	DPAGT1	C0014544	Epilepsy	0.2	0	0	HPO
1798	DPAGT1	C0015310	Exotropia	0.2	0	0	HPO
1798	DPAGT1	C0025362	Mental Retardation	0.2	0	0	HPO
1798	DPAGT1	C0025990	Micrognathism	0.2	0	0	HPO
1798	DPAGT1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1798	DPAGT1	C0028738	Nystagmus	0.2	0	0	HPO
1798	DPAGT1	C0036572	Seizures	0.2	0	0	HPO
1798	DPAGT1	C0037932	Curvature of spine	0.2	0	0	HPO
1798	DPAGT1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1798	DPAGT1	C0086543	Cataract	0.2	0	0	HPO
1798	DPAGT1	C0151889	Hyperreflexia	0.2	0	0	HPO
1798	DPAGT1	C0221629	Proximal muscle weakness	0.2	0	0	HPO
1798	DPAGT1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1798	DPAGT1	C0269269	Inversion of nipple (disorder)	0.2	0	0	HPO
1798	DPAGT1	C0423903	Low intelligence	0.2	0	0	HPO
1798	DPAGT1	C0424688	Small head	0.2	0	0	HPO
1798	DPAGT1	C0424731	Single transverse palmar crease	0.2	0	0	HPO
1798	DPAGT1	C0557874	Global developmental delay	0.2	0	0	HPO
1798	DPAGT1	C0578531	Skin dimple	0.2	0	0	HPO
1798	DPAGT1	C0700208	Acquired scoliosis	0.2	0	0	HPO
1798	DPAGT1	C0917816	Mental deficiency	0.2	0	0	HPO
1798	DPAGT1	C1510497	Lens Opacities	0.2	0	0	HPO
1798	DPAGT1	C1837899	Isoelectric focusing of serum transferrin consistent with CDG type I	0.2	0	0	HPO
1798	DPAGT1	C1838869	Proximal neurogenic muscle weakness	0.2	0	0	HPO
1798	DPAGT1	C1843367	Poor school performance	0.2	0	0	HPO
1798	DPAGT1	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1798	DPAGT1	C1854301	Motor delay	0.2	0	0	HPO
1798	DPAGT1	C1854494	Slow progression	0.2	0	0	HPO
1798	DPAGT1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1798	DPAGT1	C1861403	Variable expressivity	0.2	0	0	HPO
1798	DPAGT1	C1864897	Cognitive delay	0.2	0	0	HPO
1798	DPAGT1	C1866862	Highly variable severity	0.2	0	0	HPO
1798	DPAGT1	C2752013	Prenatal onset	0.2	0	0	HPO
1798	DPAGT1	C2931004	Congenital disorder of glycosylation type 1J	0.600824180352639	1	7	CTD_human;ORPHANET;UNIPROT
1798	DPAGT1	C3553645	MYASTHENIC SYNDROME, CONGENITAL, 13	0.2	1	7	UNIPROT
1798	DPAGT1	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1798	DPAGT1	C4020874	No development of motor milestones	0.2	0	0	HPO
1798	DPAGT1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1798	DPAGT1	C4020876	Dull intelligence	0.2	0	0	HPO
1798	DPAGT1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1798	DPAGT1	C4280538	Curvature of little finger	0.2	0	0	HPO
18	ABAT	C0004352	Autistic Disorder	0.202681755307501	1	0	CTD_human
18	ABAT	C0014544	Epilepsy	0.2	0	0	HPO
18	ABAT	C0017168	Gastroesophageal reflux disease	0.200274726784213	1	0	CTD_human
18	ABAT	C0023380	Lethargy	0.4	1	0	CTD_human;HPO
18	ABAT	C0023520	Leukodystrophy	0.2	0	0	HPO
18	ABAT	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
18	ABAT	C0026827	Muscle hypotonia	0.2	1	0	CTD_human
18	ABAT	C0033922	Psychomotor Disorders	0.2	1	0	CTD_human
18	ABAT	C0034933	Reflex, Abnormal	0.2	1	0	CTD_human
18	ABAT	C0036572	Seizures	0.48	1	0	CTD_human;HPO
18	ABAT	C0151889	Hyperreflexia	0.2	0	0	HPO
18	ABAT	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
18	ABAT	C0241240	Tall stature	0.2	0	0	HPO
18	ABAT	C0266470	Cerebellar Hypoplasia	0.2	0	0	HPO
18	ABAT	C0342708	Gamma aminobutyric acid transaminase deficiency	0.6	1	4	CTD_human;ORPHANET;UNIPROT
18	ABAT	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
18	ABAT	C0557874	Global developmental delay	0.2	0	0	HPO
18	ABAT	C1839630	Hypotonia, severe	0.2	0	0	HPO
18	ABAT	C1843392	Death in childhood	0.2	0	0	HPO
18	ABAT	C1857353	Posterior fossa cyst	0.2	0	0	HPO
18	ABAT	C1864897	Cognitive delay	0.2	0	0	HPO
18	ABAT	C3494422	Retrognathia	0.2	0	0	HPO
18	ABAT	C4020875	Mental and motor retardation	0.2	0	0	HPO
18	ABAT	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1803	DPP4	C0011570	Mental Depression	0.200274726784213	2	0	PSYGENET
1803	DPP4	C0011581	Depressive disorder	0.200274726784213	2	0	PSYGENET
1803	DPP4	C0033687	Proteinuria	0.2	1	0	CTD_human
1804	DPP6	C0002418	Amblyopia	0.2	0	0	HPO
1804	DPP6	C0002736	Amyotrophic Lateral Sclerosis	0.211877085524169	1	1	CTD_human
1804	DPP6	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1804	DPP6	C0037932	Curvature of spine	0.2	0	0	HPO
1804	DPP6	C0041667	Underweight	0.2	0	0	HPO
1804	DPP6	C0152205	Alternating esotropia	0.2	0	0	HPO
1804	DPP6	C0220693	Microcephaly autosomal dominant	0.200274726784213	0	0	ORPHANET
1804	DPP6	C0340493	Paroxysmal familial ventricular fibrillation	0.200824180352639	0	0	CTD_human
1804	DPP6	C0349588	Short stature	0.2	0	0	HPO
1804	DPP6	C0423903	Low intelligence	0.2	0	0	HPO
1804	DPP6	C0424688	Small head	0.2	0	0	HPO
1804	DPP6	C0521683	Chorioretinal degeneration	0.2	0	0	HPO
1804	DPP6	C0541764	Delayed bone age	0.2	0	0	HPO
1804	DPP6	C0700208	Acquired scoliosis	0.2	0	0	HPO
1804	DPP6	C0917816	Mental deficiency	0.2	0	0	HPO
1804	DPP6	C1262477	Weight decreased	0.2	0	0	HPO
1804	DPP6	C1263846	Attention deficit hyperactivity disorder	0.2	0	0	HPO
1804	DPP6	C1510586	Autism Spectrum Disorders	0.201373633921065	2	0	CTD_human
1804	DPP6	C1843367	Poor school performance	0.2	0	0	HPO
1804	DPP6	C1844806	Weight less than 3rd percentile	0.2	0	0	HPO
1804	DPP6	C2751898	Ventricular Fibrillation, Paroxysmal Familial, 1	0.2	0	0	ORPHANET
1804	DPP6	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1804	DPP6	C4020876	Dull intelligence	0.2	0	0	HPO
1804	DPP6	C4024202	Reduced number of teeth	0.2	0	0	HPO
1804	DPP6	C4083050	Agenesis of teeth	0.2	0	0	HPO
1804	DPP6	C4225375	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33	0.2	1	1	UNIPROT
1805	DPT	C0042345	Varicosity	0.2	1	0	CTD_human
1806	DPYD	C0004106	Astigmatism	0.2	0	0	HPO
1806	DPYD	C0004352	Autistic Disorder	0.400274726784213	1	0	CTD_human;HPO
1806	DPYD	C0009363	Congenital ocular coloboma (disorder)	0.2	0	0	HPO
1806	DPYD	C0009375	Colonic Neoplasms	0.202956482091714	1	0	CTD_human
1806	DPYD	C0009404	Colorectal Neoplasms	0.310732745993653	5	0	CTD_human
1806	DPYD	C0014306	Enophthalmos	0.2	0	0	HPO
1806	DPYD	C0014544	Epilepsy	0.2	0	0	HPO
1806	DPYD	C0018671	Head and Neck Neoplasms	0.2	1	0	CTD_human
1806	DPYD	C0023012	Language Delay	0.2	0	0	HPO
1806	DPYD	C0023014	Language Development Disorders	0.2	1	0	CTD_human
1806	DPYD	C0023380	Lethargy	0.2	0	0	HPO
1806	DPYD	C0024121	Lung Neoplasms	0.202732912464814	1	0	CTD_human
1806	DPYD	C0025362	Mental Retardation	0.2	0	0	HPO
1806	DPYD	C0026010	Microphthalmos	0.2	0	0	HPO
1806	DPYD	C0026106	Mild Mental Retardation	0.2	0	0	HPO
1806	DPYD	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1806	DPYD	C0026827	Muscle hypotonia	0.2	0	0	HPO
1806	DPYD	C0027092	Myopia	0.2	0	0	HPO
1806	DPYD	C0027627	Neoplasm Metastasis	0.201923087489492	1	0	CTD_human
1806	DPYD	C0027765	nervous system disorder	0.200274726784213	1	0	CTD_human
1806	DPYD	C0027947	Neutropenia	0.201098907136852	1	0	CTD_human
1806	DPYD	C0028738	Nystagmus	0.2	0	0	HPO
1806	DPYD	C0028754	Obesity	0.4	1	0	CTD_human;HPO
1806	DPYD	C0029124	Optic Atrophy	0.2	0	0	HPO
1806	DPYD	C0030297	Pancreatic Neoplasm	0.202407028523288	2	0	CTD_human
1806	DPYD	C0031117	Peripheral Neuropathy	0.200274726784213	1	0	CTD_human
1806	DPYD	C0034139	Purine-Pyrimidine Metabolism, Inborn Errors	0.2	2	0	CTD_human
1806	DPYD	C0034372	Quadriplegia	0.2	0	0	HPO
1806	DPYD	C0036341	Schizophrenia	0.200274726784213	2	1	CTD_human
1806	DPYD	C0036572	Seizures	0.200274726784213	0	0	HPO
1806	DPYD	C0037020	Shyness	0.2	0	0	HPO
1806	DPYD	C0038356	Stomach Neoplasms	0.212635753342179	3	0	CTD_human
1806	DPYD	C0151686	Growth retardation	0.2	0	0	HPO
1806	DPYD	C0154671	Degenerative brain disorder	0.2	0	0	HPO
1806	DPYD	C0231246	Failure to gain weight	0.2	0	0	HPO
1806	DPYD	C0233715	Speech impairment	0.2	0	0	HPO
1806	DPYD	C0235946	Cerebral atrophy	0.2	0	0	HPO
1806	DPYD	C0241210	Speech Delay	0.200549453568426	0	0	HPO
1806	DPYD	C0270612	Leukoencephalopathies	0.2	1	0	CTD_human
1806	DPYD	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
1806	DPYD	C0423224	Sunken eyes	0.2	0	0	HPO
1806	DPYD	C0423903	Low intelligence	0.2	0	0	HPO
1806	DPYD	C0424295	Hyperactive behavior	0.2	0	0	HPO
1806	DPYD	C0424688	Small head	0.2	0	0	HPO
1806	DPYD	C0426414	Small nose	0.2	0	0	HPO
1806	DPYD	C0426429	Broad nasal tip	0.2	0	0	HPO
1806	DPYD	C0454644	Delayed speech and language development	0.2	0	0	HPO
1806	DPYD	C0456070	Growth delay	0.2	0	0	HPO
1806	DPYD	C0557874	Global developmental delay	0.200274726784213	0	0	HPO
1806	DPYD	C0856975	Autistic behavior	0.2	0	0	HPO
1806	DPYD	C0878787	Growth failure	0.2	0	0	HPO
1806	DPYD	C0917816	Mental deficiency	0.2	0	0	HPO
1806	DPYD	C1458155	Mammary Neoplasms	0.210931649859255	1	0	CTD_human
1806	DPYD	C1510586	Autism Spectrum Disorders	0.401098907136852	2	0	CTD_human;HPO
1806	DPYD	C1837385	Poor growth	0.2	0	0	HPO
1806	DPYD	C1837514	Phenotypic variability	0.2	0	0	HPO
1806	DPYD	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1806	DPYD	C1843367	Poor school performance	0.2	0	0	HPO
1806	DPYD	C1848657	Long ears	0.2	0	0	HPO
1806	DPYD	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1806	DPYD	C1854114	Short nose	0.2	0	0	HPO
1806	DPYD	C1854301	Motor delay	0.2	0	0	HPO
1806	DPYD	C1864897	Cognitive delay	0.2	0	0	HPO
1806	DPYD	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1806	DPYD	C1866231	Full cheeks	0.2	0	0	HPO
1806	DPYD	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	0.618968824756397	4	47	CTD_human;HPO;ORPHANET;UNIPROT
1806	DPYD	C2239176	Liver carcinoma	0.201648360705279	1	0	CTD_human
1806	DPYD	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1806	DPYD	C2748653	Chubby cheeks	0.2	0	0	HPO
1806	DPYD	C3552463	Very poor growth	0.2	0	0	HPO
1806	DPYD	C3714756	Intellectual Disability	0.200274726784213	0	0	HPO
1806	DPYD	C3806443	Puffy cheeks	0.2	0	0	HPO
1806	DPYD	C4020860	Supratentorial atrophy	0.2	0	0	HPO
1806	DPYD	C4020874	No development of motor milestones	0.2	0	0	HPO
1806	DPYD	C4020875	Mental and motor retardation	0.2	0	0	HPO
1806	DPYD	C4020876	Dull intelligence	0.2	0	0	HPO
1806	DPYD	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1806	DPYD	C4021982	Abnormal eating behavior	0.2	0	0	HPO
1806	DPYD	C4025582	Reduced dihydropyrimidine dehydrogenase activity	0.2	0	0	HPO
1806	DPYD	C4025846	Abnormality of vision	0.2	0	0	HPO
1806	DPYD	C4083076	Increased head circumference	0.2	0	0	HPO
1806	DPYD	C4255213	Increased size of skull	0.2	0	0	HPO
1806	DPYD	C4280625	Decreased size of eyeball	0.2	0	0	HPO
1806	DPYD	C4280647	Hypertrophy of cheeks	0.2	0	0	HPO
1806	DPYD	C4280648	Hyperplasia of cheeks	0.2	0	0	HPO
1806	DPYD	C4280663	Increased size of cranium	0.2	0	0	HPO
1806	DPYD	C4280664	Big calvaria	0.2	0	0	HPO
1806	DPYD	C4280808	Abnormally small eyeball	0.2	0	0	HPO
1807	DPYS	C0003466	Anus, Imperforate	0.2	0	0	HPO
1807	DPYS	C0009081	Congenital clubfoot	0.2	0	0	HPO
1807	DPYS	C0014544	Epilepsy	0.2	0	0	HPO
1807	DPYS	C0023012	Language Delay	0.2	0	0	HPO
1807	DPYS	C0023380	Lethargy	0.2	0	0	HPO
1807	DPYS	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1807	DPYS	C0025362	Mental Retardation	0.2	0	0	HPO
1807	DPYS	C0036572	Seizures	0.2	0	0	HPO
1807	DPYS	C0151686	Growth retardation	0.2	0	0	HPO
1807	DPYS	C0220981	Metabolic acidosis	0.2	0	0	HPO
1807	DPYS	C0233715	Speech impairment	0.2	0	0	HPO
1807	DPYS	C0241210	Speech Delay	0.2	0	0	HPO
1807	DPYS	C0265529	Plagiocephaly	0.2	0	0	HPO
1807	DPYS	C0266617	Congenital anomaly of face	0.2	0	0	HPO
1807	DPYS	C0342803	Dihydropyrimidinase deficiency	0.6	1	5	CTD_human;ORPHANET;UNIPROT
1807	DPYS	C0423903	Low intelligence	0.2	0	0	HPO
1807	DPYS	C0424503	Dysmorphic facies	0.2	0	0	HPO
1807	DPYS	C0454644	Delayed speech and language development	0.2	0	0	HPO
1807	DPYS	C0456070	Growth delay	0.2	0	0	HPO
1807	DPYS	C0877165	Short phalanx of finger	0.2	0	0	HPO
1807	DPYS	C0878787	Growth failure	0.2	0	0	HPO
1807	DPYS	C0917816	Mental deficiency	0.2	0	0	HPO
1807	DPYS	C0948163	Leukoaraiosis	0.2	0	0	HPO
1807	DPYS	C1385263	facial deformity	0.2	0	0	HPO
1807	DPYS	C1450010	Plagiocephaly, Nonsynostotic	0.2	0	0	HPO
1807	DPYS	C1837385	Poor growth	0.2	0	0	HPO
1807	DPYS	C1837514	Phenotypic variability	0.2	0	0	HPO
1807	DPYS	C1839039	Highly variable clinical phenotype	0.2	0	0	HPO
1807	DPYS	C1843367	Poor school performance	0.2	0	0	HPO
1807	DPYS	C1848528	Extrapyramidal dyskinesia	0.2	0	0	HPO
1807	DPYS	C1850667	Highly variable phenotype and severity	0.2	0	0	HPO
1807	DPYS	C1866210	Highly variable phenotype, even within families	0.2	0	0	HPO
1807	DPYS	C1959620	Dihydropyrimidine Dehydrogenase Deficiency	0.2	0	0	HPO
1807	DPYS	C2674608	Feeding difficulties in infancy	0.2	0	0	HPO
1807	DPYS	C2830004	Somnolence	0.2	0	0	HPO
1807	DPYS	C3552463	Very poor growth	0.2	0	0	HPO
1807	DPYS	C3714756	Intellectual Disability	0.2	0	0	HPO
1807	DPYS	C4020851	Cortical white matter abnormalities seen on MRI	0.2	0	0	HPO
1807	DPYS	C4020859	Pyramidal tract disease	0.2	0	0	HPO
1807	DPYS	C4020876	Dull intelligence	0.2	0	0	HPO
1807	DPYS	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1807	DPYS	C4021761	Morphological abnormality of the pyramidal tract	0.2	0	0	HPO
1807	DPYS	C4025582	Reduced dihydropyrimidine dehydrogenase activity	0.2	0	0	HPO
1807	DPYS	C4072830	Asymmetry of the posterior cranium	0.2	0	0	HPO
1807	DPYS	C4072832	Distortion of face	0.2	0	0	HPO
1807	DPYS	C4072833	Funny looking face	0.2	0	0	HPO
1807	DPYS	C4280597	Rhomboid shaped head	0.2	0	0	HPO
1807	DPYS	C4280598	Flattening of head	0.2	0	0	HPO
1807	DPYS	C4280807	Flattening of cranial vault	0.2	0	0	HPO
1808	DPYSL2	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
1808	DPYSL2	C0002395	Alzheimer's Disease	0.205754907091158	1	0	CTD_human
1808	DPYSL2	C0005586	Bipolar Disorder	0.205363510615002	4	0	PSYGENET
1808	DPYSL2	C0011570	Mental Depression	0.2	1	0	PSYGENET
1808	DPYSL2	C0011581	Depressive disorder	0.2	1	0	PSYGENET
1808	DPYSL2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1808	DPYSL2	C0033937	Psychoses, Drug	0.2	1	0	PSYGENET
1808	DPYSL2	C0036349	Paranoid Schizophrenia	0.200549453568426	1	0	CTD_human
1813	DRD2	C0001818	Agoraphobia	0.2	0	0	HPO
1813	DRD2	C0001973	Alcoholic Intoxication, Chronic	0.325301208640527	5	0	PSYGENET
1813	DRD2	C0003467	Anxiety	0.205978476718058	0	0	HPO
1813	DRD2	C0003469	Anxiety Disorders	0.206253203502271	2	0	CTD_human
1813	DRD2	C0004782	Basal Ganglia Diseases	0.204814057046576	5	0	CTD_human
1813	DRD2	C0005586	Bipolar Disorder	0.223167915699917	5	0	PSYGENET
1813	DRD2	C0006870	Cannabis Dependence	0.200274726784213	2	0	PSYGENET
1813	DRD2	C0007370	Catalepsy	0.2	4	0	CTD_human
1813	DRD2	C0008073	Developmental Disabilities	0.2	1	0	CTD_human
1813	DRD2	C0009171	Cocaine Abuse	0.20350593566014	4	0	PSYGENET
1813	DRD2	C0009241	Cognition Disorders	0.202681755307501	1	0	CTD_human
1813	DRD2	C0011206	Delirium	0.205363510615002	2	0	PSYGENET
1813	DRD2	C0011570	Mental Depression	0.209968353411995	5	0	PSYGENET
1813	DRD2	C0011581	Depressive disorder	0.482747267842131	5	0	HPO;PSYGENET
1813	DRD2	C0013384	Dyskinetic syndrome	0.212030556996107	1	0	CTD_human
1813	DRD2	C0013386	Dyskinesia, Drug-Induced	0.202407028523288	3	0	CTD_human
1813	DRD2	C0019337	Heroin Dependence	0.209144173059356	1	0	CTD_human
1813	DRD2	C0020514	Hyperprolactinemia	0.209144173059356	2	0	CTD_human
1813	DRD2	C0020538	Hypertensive disease	0.201648360705279	1	0	CTD_human
1813	DRD2	C0020649	Hypotension	0.2	4	0	CTD_human
1813	DRD2	C0021122	Disruptive, Impulse Control, and Conduct Disorders	0.202681755307501	3	0	CTD_human
1813	DRD2	C0023015	Language Disorders	0.200274726784213	1	0	CTD_human
1813	DRD2	C0024517	Single major depressive episode	0.200274726784213	1	0	PSYGENET
1813	DRD2	C0024809	Marijuana Abuse	0.207561324888707	2	0	PSYGENET
1813	DRD2	C0025261	Memory Disorders	0.204814057046576	1	0	CTD_human
1813	DRD2	C0026650	Movement Disorders	0.200824180352639	1	0	CTD_human
1813	DRD2	C0027066	Myoclonus	0.2	0	0	HPO
1813	DRD2	C0028768	Obsessive-Compulsive Disorder	0.203831819601666	0	0	HPO
1813	DRD2	C0030193	Pain	0.202956482091714	1	0	CTD_human
1813	DRD2	C0030567	Parkinson Disease	0.247303713467427	1	0	CTD_human
1813	DRD2	C0032019	Pituitary Neoplasms	0.211429946270369	1	0	CTD_human
1813	DRD2	C0036341	Schizophrenia	0.375043086575601	4	0	CTD_human
1813	DRD2	C0036572	Seizures	0.2	3	0	CTD_human
1813	DRD2	C0038587	Substance Withdrawal Syndrome	0.212309869400653	1	0	CTD_human
1813	DRD2	C0039231	Tachycardia	0.2	2	0	CTD_human
1813	DRD2	C0040336	Tobacco Use Disorder	0.226477313756168	1	0	CTD_human
1813	DRD2	C0040485	Torticollis	0.2	0	0	HPO
1813	DRD2	C0040822	Tremor	0.200274726784213	0	0	HPO
1813	DRD2	C0041696	Unipolar Depression	0.201373633921065	5	0	PSYGENET
1813	DRD2	C0043094	Weight Gain	0.209628114093152	1	0	CTD_human
1813	DRD2	C0085762	Alcohol abuse	0.216639985413433	5	0	PSYGENET
1813	DRD2	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1813	DRD2	C0154676	Organic writer's cramp	0.2	0	0	HPO
1813	DRD2	C0178417	Anhedonia	0.2	1	0	PSYGENET
1813	DRD2	C0221480	Recurrent depression	0.200274726784213	1	0	PSYGENET
1813	DRD2	C0236733	Amphetamine-Related Disorders	0.202407028523288	3	0	CTD_human
1813	DRD2	C0236736	Cocaine-Related Disorders	0.204814057046576	10	0	CTD_human
1813	DRD2	C0236969	Substance-Related Disorders	0.219256228186304	1	0	CTD_human
1813	DRD2	C0242422	Parkinsonian Disorders	0.28	3	0	CTD_human
1813	DRD2	C0424295	Hyperactive behavior	0.201648360705279	2	0	CTD_human
1813	DRD2	C0428977	Bradycardia	0.2	2	0	CTD_human
1813	DRD2	C0525045	Mood Disorders	0.210792533764634	5	0	PSYGENET
1813	DRD2	C0588008	Severe depression	0.200274726784213	1	0	PSYGENET
1813	DRD2	C0600104	Obsessive compulsive behavior	0.200824180352639	0	0	HPO
1813	DRD2	C0600427	Cocaine Dependence	0.205429023149632	5	0	PSYGENET
1813	DRD2	C0949445	Cervical Dystonia	0.2	0	0	HPO
1813	DRD2	C1263846	Attention deficit hyperactivity disorder	0.235752511884784	1	0	CTD_human
1813	DRD2	C1269683	Major Depressive Disorder	0.207011871320281	5	0	PSYGENET
1813	DRD2	C1834570	Myoclonic dystonia	0.401923087489492	0	0	CTD_human;ORPHANET
1813	DRD2	C4020884	Anxiety disease	0.2	0	0	HPO
1814	DRD3	C0001973	Alcoholic Intoxication, Chronic	0.210568964137734	5	0	PSYGENET
1814	DRD3	C0004352	Autistic Disorder	0.203231208875927	1	0	CTD_human
1814	DRD3	C0004782	Basal Ganglia Diseases	0.2	1	0	CTD_human
1814	DRD3	C0005586	Bipolar Disorder	0.223703013891026	5	0	PSYGENET
1814	DRD3	C0009171	Cocaine Abuse	0.202681755307501	1	0	PSYGENET
1814	DRD3	C0009241	Cognition Disorders	0.2	1	0	CTD_human
1814	DRD3	C0011206	Delirium	0.202956482091714	2	0	PSYGENET
1814	DRD3	C0011570	Mental Depression	0.202956482091714	5	0	PSYGENET
1814	DRD3	C0011581	Depressive disorder	0.200549453568426	5	0	PSYGENET
1814	DRD3	C0013386	Dyskinesia, Drug-Induced	0.202407028523288	1	0	CTD_human
1814	DRD3	C0016995	Gambling	0.2	1	0	CTD_human
1814	DRD3	C0020429	Hyperalgesia	0.202407028523288	1	0	CTD_human
1814	DRD3	C0021122	Disruptive, Impulse Control, and Conduct Disorders	0.204814057046576	3	0	CTD_human
1814	DRD3	C0026650	Movement Disorders	0.200549453568426	1	0	CTD_human
1814	DRD3	C0036341	Schizophrenia	0.345733452928703	1	0	CTD_human
1814	DRD3	C0036572	Seizures	0.28	1	0	CTD_human
1814	DRD3	C0040517	Gilles de la Tourette syndrome	0.205912964183428	1	0	CTD_human
1814	DRD3	C0041696	Unipolar Depression	0.201648360705279	5	0	PSYGENET
1814	DRD3	C0085762	Alcohol abuse	0.205088783830789	1	0	PSYGENET
1814	DRD3	C0221480	Recurrent depression	0.200274726784213	1	0	PSYGENET
1814	DRD3	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
1814	DRD3	C0236736	Cocaine-Related Disorders	0.204814057046576	5	0	CTD_human
1814	DRD3	C0424295	Hyperactive behavior	0.200824180352639	1	0	CTD_human
1814	DRD3	C0525045	Mood Disorders	0.203231208875927	4	0	PSYGENET
1814	DRD3	C0600427	Cocaine Dependence	0.200824180352639	3	0	PSYGENET
1814	DRD3	C1269683	Major Depressive Disorder	0.203780662444353	5	0	PSYGENET
1814	DRD3	C1860861	TREMOR, HEREDITARY ESSENTIAL, 1	0.2	0	0	CTD_human
1815	DRD4	C0001969	Alcoholic Intoxication	0.200274726784213	3	0	PSYGENET
1815	DRD4	C0001973	Alcoholic Intoxication, Chronic	0.223926583517927	5	0	PSYGENET
1815	DRD4	C0003477	Separation Anxiety Disorder	0.2	1	0	CTD_human
1815	DRD4	C0005586	Bipolar Disorder	0.224461681709036	5	0	PSYGENET
1815	DRD4	C0008074	Child Development Disorders, Pervasive	0.2	1	0	CTD_human
1815	DRD4	C0011570	Mental Depression	0.214507683674358	5	0	PSYGENET
1815	DRD4	C0011581	Depressive disorder	0.202472541057918	5	0	PSYGENET
1815	DRD4	C0024809	Marijuana Abuse	0.201373633921065	4	0	PSYGENET
1815	DRD4	C0036341	Schizophrenia	0.307126174750511	1	0	CTD_human
1815	DRD4	C0040188	Tic disorder	0.205088783830789	1	0	CTD_human
1815	DRD4	C0041696	Unipolar Depression	0.200549453568426	5	0	PSYGENET
1815	DRD4	C0085159	Seasonal Affective Disorder	0.201098907136852	4	0	PSYGENET
1815	DRD4	C0085762	Alcohol abuse	0.217673380015655	2	0	PSYGENET
1815	DRD4	C0233477	Dysphoric mood	0.200274726784213	1	0	PSYGENET
1815	DRD4	C0236733	Amphetamine-Related Disorders	0.2	1	0	CTD_human
1815	DRD4	C0236964	Attention Deficit and Disruptive Behavior Disorders	0.2	1	0	CTD_human
1815	DRD4	C0525045	Mood Disorders	0.213800173013661	5	0	PSYGENET
1815	DRD4	C1263846	Attention deficit hyperactivity disorder	0.408048476482658	3	0	CTD_human
1815	DRD4	C1269683	Major Depressive Disorder	0.205912964183428	5	0	PSYGENET
1815	DRD4	C1866430	NOVELTY SEEKING PERSONALITY TRAIT	0.2	0	0	CTD_human
1815	DRD4	C3160718	PARKINSON DISEASE, LATE-ONSET	0.2	0	0	CTD_human
1815	DRD4	C3160814	Cannabis use	0.2	1	0	PSYGENET
182	JAG1	C0001126	Renal tubular acidosis	0.200274726784213	0	0	HPO
182	JAG1	C0003492	Aortic coarctation	0.200274726784213	0	0	HPO
182	JAG1	C0005940	Bone Diseases	0.2	1	0	CTD_human
182	JAG1	C0010038	Corneal Opacity	0.2	1	0	CTD_human
182	JAG1	C0010417	Cryptorchidism	0.2	0	0	HPO
182	JAG1	C0010606	Adenoid Cystic Carcinoma	0.2	1	0	CTD_human
182	JAG1	C0011053	Deafness	0.202732912464814	1	0	CTD_human
182	JAG1	C0014306	Enophthalmos	0.2	0	0	HPO
182	JAG1	C0015300	Exophthalmos	0.2	0	0	HPO
182	JAG1	C0015393	Eye Abnormalities	0.2	3	0	CTD_human
182	JAG1	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
182	JAG1	C0017636	Glioblastoma	0.200549453568426	1	0	CTD_human
182	JAG1	C0018798	Congenital Heart Defects	0.203557092817453	1	0	CTD_human
182	JAG1	C0018817	Atrial Septal Defects	0.2	0	0	HPO
182	JAG1	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
182	JAG1	C0020443	Hypercholesterolemia	0.2	0	0	HPO
182	JAG1	C0020534	Orbital separation excessive	0.2	0	0	HPO
182	JAG1	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
182	JAG1	C0022353	Neonatal Jaundice	0.2	0	0	HPO
182	JAG1	C0023890	Liver Cirrhosis	0.200274726784213	0	0	HPO
182	JAG1	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
182	JAG1	C0027092	Myopia	0.2	0	0	HPO
182	JAG1	C0030293	Pancreatic Insufficiency	0.2	0	0	HPO
182	JAG1	C0036095	Salivary Gland Neoplasms	0.2	1	0	CTD_human
182	JAG1	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
182	JAG1	C0038379	Strabismus	0.2	0	0	HPO
182	JAG1	C0038454	Cerebrovascular accident	0.2	0	0	HPO
182	JAG1	C0039685	Tetralogy of Fallot	0.609968353411995	2	1	CTD_human;HPO;ORPHANET;UNIPROT
182	JAG1	C0042580	Vesico-Ureteral Reflux	0.2	0	0	HPO
182	JAG1	C0085280	Alagille Syndrome	0.241006215676119	3	1	CTD_human
182	JAG1	C0086543	Cataract	0.2	0	0	HPO
182	JAG1	C0086565	Liver Dysfunction	0.2	0	0	HPO
182	JAG1	C0151766	Liver function tests abnormal finding	0.2	0	0	HPO
182	JAG1	C0152421	Macrotia	0.2	0	0	HPO
182	JAG1	C0155120	Corneal Dystrophy, Band-Shaped	0.2	0	0	HPO
182	JAG1	C0221357	Brachydactyly	0.2	0	0	HPO
182	JAG1	C0221358	Long narrow head	0.2	0	0	HPO
182	JAG1	C0231246	Failure to gain weight	0.2	0	0	HPO
182	JAG1	C0234146	Absent reflex	0.2	0	0	HPO
182	JAG1	C0235996	Hepatic enzyme increased	0.2	0	0	HPO
182	JAG1	C0238463	Papillary thyroid carcinoma	0.2	0	0	HPO
182	JAG1	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
182	JAG1	C0265677	Congenital hemivertebra	0.2	0	0	HPO
182	JAG1	C0266295	Congenital hypoplasia of kidney	0.2	0	0	HPO
182	JAG1	C0266544	Microcornea	0.2	0	0	HPO
182	JAG1	C0266548	Axenfeld anomaly (disorder)	0.2	0	0	HPO
182	JAG1	C0266610	Preauricular dimple	0.2	0	0	HPO
182	JAG1	C0266625	Preauricular sinus	0.2	0	0	HPO
182	JAG1	C0267963	Exocrine pancreatic insufficiency	0.2	0	0	HPO
182	JAG1	C0278124	Absent tendon reflex	0.2	0	0	HPO
182	JAG1	C0282631	Facies	0.2	2	0	CTD_human
182	JAG1	C0344531	Embryotoxon	0.2	0	0	HPO
182	JAG1	C0345030	Peripheral pulmonary artery stenosis	0.2	0	0	HPO
182	JAG1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
182	JAG1	C0423224	Sunken eyes	0.2	0	0	HPO
182	JAG1	C0438237	Liver enzymes abnormal	0.2	0	0	HPO
182	JAG1	C0438717	Transaminases increased	0.2	0	0	HPO
182	JAG1	C0546967	Posterior embryotoxon	0.2	0	0	HPO
182	JAG1	C0546969	Preauricular Fistulae, Congenital	0.2	0	0	HPO
182	JAG1	C0554972	Large auricle	0.2	0	0	HPO
182	JAG1	C0578038	Thin lips	0.2	0	0	HPO
182	JAG1	C0595929	Serum cholesterol raised	0.2	0	0	HPO
182	JAG1	C0687120	Nephronophthisis	0.2	0	0	HPO
182	JAG1	C0877359	Liver function test increased	0.2	0	0	HPO
182	JAG1	C0887833	Carcinoma, Pancreatic Ductal	0.2	1	0	CTD_human
182	JAG1	C1167713	Corneal diameter decreased	0.2	0	0	HPO
182	JAG1	C1328514	Pigmentary retinal deposits	0.2	0	0	HPO
182	JAG1	C1386048	Intrauterine retardation	0.2	0	0	HPO
182	JAG1	C1458155	Mammary Neoplasms	0.208473464178654	1	0	CTD_human
182	JAG1	C1510497	Lens Opacities	0.2	0	0	HPO
182	JAG1	C1522137	Hypertriglyceridemia result	0.2	0	0	HPO
182	JAG1	C1619700	RENAL ADYSPLASIA	0.2	0	0	HPO
182	JAG1	C1835581	Large protruding ears	0.2	0	0	HPO
182	JAG1	C1835884	Triangular face	0.2	0	0	HPO
182	JAG1	C1836542	Depressed nasal bridge	0.2	0	0	HPO
182	JAG1	C1837760	Prominent eyes	0.2	0	0	HPO
182	JAG1	C1839798	Long nose	0.2	0	0	HPO
182	JAG1	C1839829	Short distal phalanges	0.2	0	0	HPO
182	JAG1	C1842003	Subclinical abnormal liver function tests	0.2	0	0	HPO
182	JAG1	C1842083	Abnormality of the ribs	0.2	0	0	HPO
182	JAG1	C1848490	Protruding eyes	0.2	0	0	HPO
182	JAG1	C1848570	Large, floppy ears	0.2	0	0	HPO
182	JAG1	C1848701	Elevated hepatic transaminases	0.2	0	0	HPO
182	JAG1	C1848924	Infantile onset	0.2	0	0	HPO
182	JAG1	C1849089	Broad forehead	0.2	0	0	HPO
182	JAG1	C1850049	Bilateral fifth finger clinodactyly	0.200274726784213	0	0	HPO
182	JAG1	C1850189	Large pinnae	0.2	0	0	HPO
182	JAG1	C1855062	Large dysplastic ears	0.2	0	0	HPO
182	JAG1	C1859236	Prolonged neonatal jaundice	0.2	0	0	HPO
182	JAG1	C1860614	ULNAR HYPOPLASIA	0.2	0	0	HPO
182	JAG1	C1860838	Large prominent ears	0.2	0	0	HPO
182	JAG1	C1861621	Intrahepatic duct deficiency	0.2	0	0	HPO
182	JAG1	C1861627	Butterfly vertebral arch	0.2	0	0	HPO
182	JAG1	C1861869	Underdeveloped supraorbital ridges	0.2	0	0	HPO
182	JAG1	C1862132	Short ulnae	0.2	0	0	HPO
182	JAG1	C1862425	Prominent globes	0.2	0	0	HPO
182	JAG1	C1862761	Increased hepatocellular carcinoma risk	0.2	0	0	HPO
182	JAG1	C1867955	Increased incidence of hepatocellular carcinoma	0.2	0	0	HPO
182	JAG1	C1956125	Alagille Syndrome 1	0.480274726784213	13	28	ORPHANET;UNIPROT
182	JAG1	C2239176	Liver carcinoma	0.204930726738519	0	0	HPO
182	JAG1	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
182	JAG1	C3536714	Renal dysplasia	0.200274726784213	0	0	HPO
182	JAG1	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
182	JAG1	C4020777	Underdeveloped brows	0.2	0	0	HPO
182	JAG1	C4020790	Medullary sponge kidney disease	0.2	0	0	HPO
182	JAG1	C4021591	Reduced number of intrahepatic bile ducts	0.2	0	0	HPO
182	JAG1	C4024644	Multiple small medullary renal cysts	0.2	0	0	HPO
182	JAG1	C4025252	Abnormal nasal morphology	0.2	0	0	HPO
182	JAG1	C4025790	Specific learning disability	0.2	0	0	HPO
182	JAG1	C4048273	Chorioretinal atrophy	0.2	0	0	HPO
182	JAG1	C4280495	Concave bridge of nose	0.2	0	0	HPO
182	JAG1	C4280538	Curvature of little finger	0.2	0	0	HPO
182	JAG1	C4280653	Turridolichocephaly	0.2	0	0	HPO
182	JAG1	C4280654	Narrow skull shape	0.2	0	0	HPO
182	JAG1	C4280655	Narrow head shape	0.2	0	0	HPO
182	JAG1	C4280656	Narrow cranium shape	0.2	0	0	HPO
1822	ATN1	C0085583	Choreoathetosis	0.2	0	0	HPO
1822	ATN1	C0234967	Choreoathetoid movements	0.2	0	0	HPO
1822	ATN1	C0751778	Myoclonic Epilepsies, Progressive	0.2	0	0	CTD_human
1822	ATN1	C0751781	Dentatorubral-Pallidoluysian Atrophy	0.210714344584311	0	0	ORPHANET
1822	ATN1	C0948242	Nuchal bleb, familial	0.2	0	0	HPO
1822	ATN1	C1857788	Atrophy of the dentate nucleus	0.2	0	0	HPO
1824	DSC2	C0013404	Dyspnea	0.2	0	0	HPO
1824	DSC2	C0022596	Palmoplantar Keratosis	0.200274726784213	0	0	HPO
1824	DSC2	C0030252	Palpitations	0.2	0	0	HPO
1824	DSC2	C0039070	Syncope	0.2	0	0	HPO
1824	DSC2	C0085298	Sudden Cardiac Death	0.202407028523288	0	0	HPO
1824	DSC2	C0085612	Ventricular arrhythmia	0.2	0	0	HPO
1824	DSC2	C0343073	Wooly hair	0.2	0	0	HPO
1824	DSC2	C1864850	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	0.4	2	5	CTD_human;UNIPROT
1824	DSC2	C2063326	Cardiomyopathy, right ventricular	0.200274726784213	0	0	HPO
1824	DSC2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1824	DSC2	C4072835	Kinky hair texture	0.2	0	0	HPO
1824	DSC2	C4072836	Nappy hair texture	0.2	0	0	HPO
1824	DSC2	C4073292	Afro-textured hair	0.2	0	0	HPO
1824	DSC2	C4277682	Chemical and Drug Induced Liver Injury	0.2	1	0	CTD_human
1825	DSC3	C1458155	Mammary Neoplasms	0.206015278498054	1	0	CTD_human
1825	DSC3	C2751292	Hypotrichosis And Recurrent Skin Vesicles	0.400274726784213	0	0	CTD_human;ORPHANET
1826	DSCAM	C0005586	Bipolar Disorder	0.205414667772315	1	0	PSYGENET
1826	DSCAM	C0236969	Substance-Related Disorders	0.2	1	0	CTD_human
1827	RCAN1	C0003873	Rheumatoid Arthritis	0.2	1	0	CTD_human
1827	RCAN1	C0013080	Down Syndrome	0.22766127294162	1	0	CTD_human
1827	RCAN1	C0018798	Congenital Heart Defects	0.200549453568426	1	0	CTD_human
1827	RCAN1	C0020179	Huntington Disease	0.200274726784213	1	0	CTD_human
1827	RCAN1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1828	DSG1	C0000887	Acantholysis	0.2	0	0	HPO
1828	DSG1	C0011603	Dermatitis	0.200549453568426	1	0	CTD_human
1828	DSG1	C0011606	Exfoliative dermatitis	0.2	0	0	HPO
1828	DSG1	C0020488	Hypernatremia	0.2	0	0	HPO
1828	DSG1	C0020517	Hypersensitivity	0.2	1	0	CTD_human
1828	DSG1	C0020678	Hypotrichosis	0.2	0	0	HPO
1828	DSG1	C0022596	Palmoplantar Keratosis	0.205205453522732	0	0	HPO
1828	DSG1	C0025517	Metabolic Diseases	0.2	1	0	CTD_human
1828	DSG1	C0027339	Nail Diseases	0.2	0	0	HPO
1828	DSG1	C0151686	Growth retardation	0.2	0	0	HPO
1828	DSG1	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1828	DSG1	C0241128	Nikolsky sign	0.2	0	0	HPO
1828	DSG1	C0456070	Growth delay	0.2	0	0	HPO
1828	DSG1	C0853087	Nail abnormality	0.2	0	0	HPO
1828	DSG1	C0878787	Growth failure	0.2	0	0	HPO
1828	DSG1	C1837385	Poor growth	0.2	0	0	HPO
1828	DSG1	C1853193	Recurrent skin infections	0.2	0	0	HPO
1828	DSG1	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1828	DSG1	C2931122	Keratosis palmoplantaris striata 1	0.4	0	0	CTD_human;ORPHANET
1828	DSG1	C3552463	Very poor growth	0.2	0	0	HPO
1828	DSG1	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1828	DSG1	C3809719	ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE	0.200824180352639	0	0	ORPHANET
1828	DSG1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1828	DSG1	C4024861	Streaks of hyperkeratosis along each finger onto the palm	0.2	0	0	HPO
1829	DSG2	C0007193	Cardiomyopathy, Dilated	0.205414667772315	0	0	HPO
1829	DSG2	C0030252	Palpitations	0.2	0	0	HPO
1829	DSG2	C0042514	Tachycardia, Ventricular	0.202681755307501	0	0	HPO
1829	DSG2	C0085298	Sudden Cardiac Death	0.202407028523288	0	0	HPO
1829	DSG2	C0151636	Premature ventricular contractions	0.2	0	0	HPO
1829	DSG2	C1857777	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	0.4	2	12	CTD_human;UNIPROT
1829	DSG2	C2063326	Cardiomyopathy, right ventricular	0.200274726784213	0	0	HPO
1829	DSG2	C2752072	Cardiomyopathy, Dilated, 1BB	0.2	0	0	CTD_human
1829	DSG2	C3715165	LEFT VENTRICULAR NONCOMPACTION 10	0.2	0	0	ORPHANET
1829	DSG2	C3809288	LEFT VENTRICULAR NONCOMPACTION 8	0.2	0	0	ORPHANET
183	AGT	C0001925	Albuminuria	0.21203514261644	3	0	CTD_human
183	AGT	C0002063	Alkalosis	0.2	1	0	CTD_human
183	AGT	C0002871	Anemia	0.2	1	0	CTD_human
183	AGT	C0002949	Aneurysm, Dissecting	0.202407028523288	1	0	CTD_human
183	AGT	C0003460	Anuria	0.4	1	0	CTD_human;HPO
183	AGT	C0003486	Aortic Aneurysm	0.201648360705279	1	0	CTD_human
183	AGT	C0003811	Cardiac Arrhythmia	0.2	2	0	CTD_human
183	AGT	C0004153	Atherosclerosis	0.321847658294784	2	0	CTD_human
183	AGT	C0005586	Bipolar Disorder	0.202681755307501	2	0	PSYGENET
183	AGT	C0007192	Cardiomyopathy, Alcoholic	0.2	1	0	CTD_human
183	AGT	C0007222	Cardiovascular Diseases	0.243481663622746	1	0	CTD_human
183	AGT	C0007273	Carotid Artery Diseases	0.207221085569864	1	0	CTD_human
183	AGT	C0007370	Catalepsy	0.2	1	0	CTD_human
183	AGT	C0009241	Cognition Disorders	0.2	1	0	CTD_human
183	AGT	C0011071	Sudden death	0.2	1	0	CTD_human
183	AGT	C0011570	Mental Depression	0.205638237399215	5	0	PSYGENET
183	AGT	C0011581	Depressive disorder	0.200824180352639	5	0	PSYGENET
183	AGT	C0011853	Diabetes Mellitus, Experimental	0.2	3	0	CTD_human
183	AGT	C0011881	Diabetic Nephropathy	0.239454985148814	2	0	CTD_human
183	AGT	C0011884	Diabetic Retinopathy	0.288371149864029	1	0	CTD_human
183	AGT	C0015934	Fetal Growth Retardation	0.202407028523288	1	0	CTD_human
183	AGT	C0016059	Fibrosis	0.20754696951139	4	0	CTD_human
183	AGT	C0017658	Glomerulonephritis	0.203780662444353	1	0	CTD_human
183	AGT	C0017661	IGA Glomerulonephritis	0.240720040403297	1	0	CTD_human
183	AGT	C0017668	Focal glomerulosclerosis	0.204106546385879	1	0	CTD_human
183	AGT	C0018799	Heart Diseases	0.204106546385879	1	0	CTD_human
183	AGT	C0018800	Cardiomegaly	0.28	18	0	CTD_human
183	AGT	C0018801	Heart failure	0.297595190835332	3	0	CTD_human
183	AGT	C0019284	Diaphragmatic Hernia	0.202732912464814	1	0	CTD_human
183	AGT	C0020429	Hyperalgesia	0.2	1	0	CTD_human
183	AGT	C0020452	Hyperemia	0.2	1	0	CTD_human
183	AGT	C0020538	Hypertensive disease	0.52	69	0	CTD_human
183	AGT	C0020540	Malignant Hypertension	0.204381273170092	1	0	CTD_human
183	AGT	C0020544	Renal hypertension	0.207221085569864	1	0	CTD_human
183	AGT	C0020564	Hypertrophy	0.2	6	0	CTD_human
183	AGT	C0020621	Hypokalemia	0.2	1	0	CTD_human
183	AGT	C0020649	Hypotension	0.4	3	0	CTD_human;HPO
183	AGT	C0021368	Inflammation	0.202407028523288	3	0	CTD_human
183	AGT	C0022658	Kidney Diseases	0.235124869136034	4	0	CTD_human
183	AGT	C0023890	Liver Cirrhosis	0.218325147898707	1	0	CTD_human
183	AGT	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
183	AGT	C0027051	Myocardial Infarction	0.249892924217288	2	0	CTD_human
183	AGT	C0027055	Myocardial Reperfusion Injury	0.2	2	0	CTD_human
183	AGT	C0027540	Necrosis	0.2	2	0	CTD_human
183	AGT	C0027720	Nephrosis	0.2	1	0	CTD_human
183	AGT	C0029944	Drug Overdose	0.2	1	0	CTD_human
183	AGT	C0030922	Peptic Ulcer Hemorrhage	0.202407028523288	1	0	CTD_human
183	AGT	C0032914	Pre-Eclampsia	0.252177018696677	1	0	CTD_human
183	AGT	C0033687	Proteinuria	0.209628114093152	5	0	CTD_human
183	AGT	C0035126	Reperfusion Injury	0.2	1	0	CTD_human
183	AGT	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
183	AGT	C0035344	Retinopathy of Prematurity	0.2	1	0	CTD_human
183	AGT	C0036572	Seizures	0.2	1	0	CTD_human
183	AGT	C0040053	Thrombosis	0.2	1	0	CTD_human
183	AGT	C0079924	Oligohydramnios	0.2	0	0	HPO
183	AGT	C0085580	Essential Hypertension	0.254892520953684	0	0	CTD_human
183	AGT	C0149721	Left Ventricular Hypertrophy	0.254301229410391	6	0	CTD_human
183	AGT	C0151744	Myocardial Ischemia	0.216207201536949	1	0	CTD_human
183	AGT	C0162871	Aortic Aneurysm, Abdominal	0.212571919539173	4	0	CTD_human
183	AGT	C0242698	Ventricular Dysfunction, Left	0.202407028523288	1	0	CTD_human
183	AGT	C0243050	Cardiovascular Abnormalities	0.200274726784213	1	0	CTD_human
183	AGT	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
183	AGT	C0266313	Allanson Pantzar McLeod syndrome	0.600274726784213	2	4	CTD_human;HPO;ORPHANET;UNIPROT
183	AGT	C0266619	Potter's facies	0.2	0	0	HPO
183	AGT	C0424688	Small head	0.2	0	0	HPO
183	AGT	C0428977	Bradycardia	0.2	1	0	CTD_human
183	AGT	C0553980	Endomyocardial Fibrosis	0.2	4	0	CTD_human
183	AGT	C0878544	Cardiomyopathies	0.208045265922503	1	0	CTD_human
183	AGT	C1565489	Renal Insufficiency	0.204879569581206	1	0	CTD_human
183	AGT	C1849300	Widely patent fontanels and sutures	0.2	0	0	HPO
183	AGT	C2936380	Neointima	0.2	1	0	CTD_human
183	AGT	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
183	AGT	C3850148	Vascular Remodeling	0.2	1	0	CTD_human
183	AGT	C4020855	Respiratory function loss	0.2	0	0	HPO
183	AGT	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1831	TSC22D3	C0020459	Hyperinsulinism	0.2	1	0	CTD_human
1831	TSC22D3	C0021364	Male infertility	0.2	1	0	CTD_human
1831	TSC22D3	C0039584	Testicular Diseases	0.2	1	0	CTD_human
1831	TSC22D3	C1262477	Weight decreased	0.2	1	0	CTD_human
1832	DSP	C0000887	Acantholysis	0.2	0	0	HPO
1832	DSP	C0002170	Alopecia	0.200274726784213	0	0	HPO
1832	DSP	C0007193	Cardiomyopathy, Dilated	0.200824180352639	0	0	HPO
1832	DSP	C0007222	Cardiovascular Diseases	0.2	0	0	HPO
1832	DSP	C0018801	Heart failure	0.201098907136852	0	0	HPO
1832	DSP	C0018802	Congestive heart failure	0.201098907136852	0	0	HPO
1832	DSP	C0022596	Palmoplantar Keratosis	0.205205453522732	0	0	HPO
1832	DSP	C0027339	Nail Diseases	0.2	0	0	HPO
1832	DSP	C0027443	Natal Teeth	0.2	0	0	HPO
1832	DSP	C0042510	Ventricular Fibrillation	0.2	0	0	HPO
1832	DSP	C0042514	Tachycardia, Ventricular	0.202956482091714	0	0	HPO
1832	DSP	C0079153	Hyperkeratosis, Epidermolytic	0.2	0	0	HPO
1832	DSP	C0085298	Sudden Cardiac Death	0.402407028523288	1	0	CTD_human;HPO
1832	DSP	C0151636	Premature ventricular contractions	0.2	0	0	HPO
1832	DSP	C0157733	hair abnormalities (non-specific)	0.2	0	0	HPO
1832	DSP	C0221260	Dystrophia unguium	0.2	0	0	HPO
1832	DSP	C0231246	Failure to gain weight	0.2	0	0	HPO
1832	DSP	C0241128	Nikolsky sign	0.2	0	0	HPO
1832	DSP	C0241181	Fragile skin	0.2	0	0	HPO
1832	DSP	C0243050	Cardiovascular Abnormalities	0.2	0	0	HPO
1832	DSP	C0263505	Alopecia universalis	0.2	0	0	HPO
1832	DSP	C0265998	ANONYCHIA	0.2	0	0	HPO
1832	DSP	C0343073	Wooly hair	0.2	0	0	HPO
1832	DSP	C0345326	Congenital phimosis	0.2	0	0	HPO
1832	DSP	C0410916	Neonatal Death	0.2	0	0	HPO
1832	DSP	C0853087	Nail abnormality	0.2	0	0	HPO
1832	DSP	C0853945	Oral mucosal blistering	0.2	0	0	HPO
1832	DSP	C1800706	Idiopathic Pulmonary Fibrosis	0.4	1	0	CTD_human;ORPHANET
1832	DSP	C1832446	Sparse eyebrow	0.2	0	0	HPO
1832	DSP	C1834405	Nail dysplasia	0.2	0	0	HPO
1832	DSP	C1840069	Sandal gap	0.2	0	0	HPO
1832	DSP	C1843292	Skin Fragility-Woolly Hair Syndrome	0.600549453568426	1	5	CTD_human;ORPHANET;UNIPROT
1832	DSP	C1843294	Palmoplantar keratosis with erythema and scale	0.2	0	0	HPO
1832	DSP	C1843300	Sparse eyelashes	0.2	0	0	HPO
1832	DSP	C1843896	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	0.48	3	7	CTD_human;UNIPROT
1832	DSP	C1852127	KERATOSIS PALMOPLANTARIS STRIATA II	0.2	0	0	CTD_human
1832	DSP	C1854063	Cardiomyopathy dilated with Woolly hair and keratoderma	0.481923087489492	1	6	CTD_human;ORPHANET
1832	DSP	C1864826	Epidermolysis bullosa, lethal acantholytic	0.400824180352639	0	0	CTD_human;ORPHANET
1832	DSP	C1969236	Pseudosyndactyly	0.2	0	0	HPO
1832	DSP	C1969237	Tapered distal phalanges	0.2	0	0	HPO
1832	DSP	C1969238	Widely spaced toes	0.2	0	0	HPO
1832	DSP	C2063326	Cardiomyopathy, right ventricular	0.2	0	0	HPO
1832	DSP	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
1832	DSP	C2677869	Hair shaft abnormalities	0.2	0	0	HPO
1832	DSP	C2931122	Keratosis palmoplantaris striata 1	0.2	0	0	ORPHANET
1832	DSP	C3809719	ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE	0.2	0	0	ORPHANET
1832	DSP	C3887524	Skin Erosion	0.2	0	0	HPO
1832	DSP	C4014393	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	0.2	2	3	UNIPROT
1832	DSP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1832	DSP	C4021633	Patchy palmoplantar keratoderma	0.2	0	0	HPO
1832	DSP	C4024202	Reduced number of teeth	0.2	0	0	HPO
1832	DSP	C4072835	Kinky hair texture	0.2	0	0	HPO
1832	DSP	C4072836	Nappy hair texture	0.2	0	0	HPO
1832	DSP	C4073292	Afro-textured hair	0.2	0	0	HPO
1832	DSP	C4083050	Agenesis of teeth	0.2	0	0	HPO
1836	SLC26A2	C0000731	Abdomen distended	0.2	0	0	HPO
1836	SLC26A2	C0003862	Arthralgia	0.2	0	0	HPO
1836	SLC26A2	C0005941	Bone Diseases, Developmental	0.2	1	0	CTD_human
1836	SLC26A2	C0006157	Breech Presentation	0.2	0	0	HPO
1836	SLC26A2	C0008925	Cleft Palate	0.2	0	0	HPO
1836	SLC26A2	C0009081	Congenital clubfoot	0.200274726784213	0	0	HPO
1836	SLC26A2	C0011053	Deafness	0.2	0	0	HPO
1836	SLC26A2	C0013336	Dwarfism	0.2	0	0	HPO
1836	SLC26A2	C0013447	Ear Diseases	0.2	1	0	CTD_human
1836	SLC26A2	C0013604	Edema	0.2	0	0	HPO
1836	SLC26A2	C0015934	Fetal Growth Retardation	0.2	0	0	HPO
1836	SLC26A2	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1836	SLC26A2	C0019288	Hernia, Femoral	0.2	0	0	HPO
1836	SLC26A2	C0019294	Hernia, Inguinal	0.2	0	0	HPO
1836	SLC26A2	C0019322	Umbilical hernia	0.2	0	0	HPO
1836	SLC26A2	C0019555	Hip Dislocation, Congenital	0.2	0	0	HPO
1836	SLC26A2	C0019825	Hoarseness	0.2	0	0	HPO
1836	SLC26A2	C0020224	Polyhydramnios	0.2	0	0	HPO
1836	SLC26A2	C0020305	Hydrops Fetalis	0.2	0	0	HPO
1836	SLC26A2	C0020534	Orbital separation excessive	0.2	0	0	HPO
1836	SLC26A2	C0021296	Infant, Small for Gestational Age	0.2	0	0	HPO
1836	SLC26A2	C0022821	Kyphosis deformity of spine	0.4	1	0	CTD_human;HPO
1836	SLC26A2	C0025990	Micrognathism	0.2	0	0	HPO
1836	SLC26A2	C0025995	Micromelia	0.2	0	0	HPO
1836	SLC26A2	C0026760	Multiple Epiphyseal Dysplasia	0.202472541057918	0	0	HPO
1836	SLC26A2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1836	SLC26A2	C0029408	Degenerative polyarthritis	0.200274726784213	0	0	HPO
1836	SLC26A2	C0029464	Osteosclerosis	0.2	0	0	HPO
1836	SLC26A2	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
1836	SLC26A2	C0037926	Compression of spinal cord	0.2	0	0	HPO
1836	SLC26A2	C0037932	Curvature of spine	0.2	0	0	HPO
1836	SLC26A2	C0162298	Joint stiffness	0.2	0	0	HPO
1836	SLC26A2	C0220726	Diastrophic dysplasia	0.490164891015885	0	0	CTD_human;ORPHANET
1836	SLC26A2	C0221354	Frontal bossing	0.2	0	0	HPO
1836	SLC26A2	C0221357	Brachydactyly	0.2	0	0	HPO
1836	SLC26A2	C0231679	Ulnar deviation of the fingers	0.2	0	0	HPO
1836	SLC26A2	C0239594	Short finger	0.2	0	0	HPO
1836	SLC26A2	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1836	SLC26A2	C0265274	Achondrogenesis, type IB (disorder)	0.602472541057918	1	29	CTD_human;ORPHANET;UNIPROT
1836	SLC26A2	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
1836	SLC26A2	C0339789	Congenital deafness	0.2	0	0	HPO
1836	SLC26A2	C0349588	Short stature	0.2	0	0	HPO
1836	SLC26A2	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1836	SLC26A2	C0392476	Epiphyseal dysplasia	0.2	0	0	HPO
1836	SLC26A2	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
1836	SLC26A2	C0409354	Flexion contracture of hip	0.2	0	0	HPO
1836	SLC26A2	C0426414	Small nose	0.2	0	0	HPO
1836	SLC26A2	C0426789	Short thorax	0.2	0	0	HPO
1836	SLC26A2	C0426790	Narrow thorax	0.2	0	0	HPO
1836	SLC26A2	C0426817	Short ribs	0.2	0	0	HPO
1836	SLC26A2	C0521525	Short neck	0.2	0	0	HPO
1836	SLC26A2	C0542514	Blue sclera	0.2	0	0	HPO
1836	SLC26A2	C0575158	Kyphoscoliosis deformity of spine	0.2	0	0	HPO
1836	SLC26A2	C0575170	Cervical kyphosis	0.2	0	0	HPO
1836	SLC26A2	C0575802	Small hand	0.2	0	0	HPO
1836	SLC26A2	C0595939	Stillbirth	0.2	0	0	HPO
1836	SLC26A2	C0700208	Acquired scoliosis	0.200274726784213	0	0	HPO
1836	SLC26A2	C0878659	Short stature, disproportionate	0.2	0	0	HPO
1836	SLC26A2	C1184923	Lumbar lordosis	0.2	0	0	HPO
1836	SLC26A2	C1384666	hearing impairment	0.2	0	0	HPO
1836	SLC26A2	C1386048	Intrauterine retardation	0.2	0	0	HPO
1836	SLC26A2	C1832983	Absent or minimally ossified vertebral bodies	0.2	0	0	HPO
1836	SLC26A2	C1834954	Coronal cleft vertebrae	0.2	0	0	HPO
1836	SLC26A2	C1835570	Hypoplastic cervical vertebrae	0.2	0	0	HPO
1836	SLC26A2	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1836	SLC26A2	C1836940	Excess nuchal skin	0.2	0	0	HPO
1836	SLC26A2	C1837084	Short metacarpal	0.2	0	0	HPO
1836	SLC26A2	C1837482	Thoracic hypoplasia	0.2	0	0	HPO
1836	SLC26A2	C1837485	Flat acetabular roof	0.2	0	0	HPO
1836	SLC26A2	C1837731	Overfolded helix	0.2	0	0	HPO
1836	SLC26A2	C1839326	Abnormally-shaped vertebrae	0.2	0	0	HPO
1836	SLC26A2	C1840069	Sandal gap	0.2	0	0	HPO
1836	SLC26A2	C1840077	Anteverted nostril	0.2	0	0	HPO
1836	SLC26A2	C1842083	Abnormality of the ribs	0.2	0	0	HPO
1836	SLC26A2	C1842155	Flat proximal femoral epiphyses	0.2	0	0	HPO
1836	SLC26A2	C1844548	Hypoplastic finger	0.2	0	0	HPO
1836	SLC26A2	C1844573	Fleshy earlobes	0.2	0	0	HPO
1836	SLC26A2	C1844704	Platyspondyly	0.2	0	0	HPO
1836	SLC26A2	C1845112	Hyperkyphosis	0.2	0	0	HPO
1836	SLC26A2	C1846449	Irregular epiphyses	0.2	0	0	HPO
1836	SLC26A2	C1846797	Short stature, severe disproportionate	0.2	0	0	HPO
1836	SLC26A2	C1846950	Short middle phalanges	0.2	0	0	HPO
1836	SLC26A2	C1847593	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	0.600824180352639	2	32	CTD_human;ORPHANET;UNIPROT
1836	SLC26A2	C1848673	Hypoplastic feet	0.2	0	0	HPO
1836	SLC26A2	C1849937	Short limb dwarfism, disproportionate	0.2	0	0	HPO
1836	SLC26A2	C1850049	Bilateral fifth finger clinodactyly	0.2	0	0	HPO
1836	SLC26A2	C1850171	Short limb dwarfism recognizable at birth	0.2	0	0	HPO
1836	SLC26A2	C1850554	Atelosteogenesis type 2	0.601923087489492	2	30	CTD_human;ORPHANET;UNIPROT
1836	SLC26A2	C1850558	Horizontal sacrum	0.2	0	0	HPO
1836	SLC26A2	C1853241	Flat face	0.2	0	0	HPO
1836	SLC26A2	C1853242	Midface retrusion	0.2	0	0	HPO
1836	SLC26A2	C1854114	Short nose	0.2	0	0	HPO
1836	SLC26A2	C1854408	Glabellar hemangioma	0.2	0	0	HPO
1836	SLC26A2	C1854912	Short tubular bones	0.2	0	0	HPO
1836	SLC26A2	C1855340	Bowing of the long bones	0.2	0	0	HPO
1836	SLC26A2	C1855608	Costal cartilage calcification	0.2	0	0	HPO
1836	SLC26A2	C1856920	Small femoral heads	0.2	0	0	HPO
1836	SLC26A2	C1856922	Limited elbow flexion	0.2	0	0	HPO
1836	SLC26A2	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1836	SLC26A2	C1857263	Hypertrophic auricular cartilage	0.2	0	0	HPO
1836	SLC26A2	C1857269	Hitchhiker thumb	0.2	0	0	HPO
1836	SLC26A2	C1857486	Low-set, posteriorly rotated ears	0.2	0	0	HPO
1836	SLC26A2	C1857527	Flat epiphyses	0.2	0	0	HPO
1836	SLC26A2	C1858085	Malar flattening	0.2	0	0	HPO
1836	SLC26A2	C1861218	Hypoplastic ilia	0.2	0	0	HPO
1836	SLC26A2	C1865014	Long philtrum	0.2	0	0	HPO
1836	SLC26A2	C1865572	Proximally placed thumbs	0.2	0	0	HPO
1836	SLC26A2	C1866231	Full cheeks	0.2	0	0	HPO
1836	SLC26A2	C1866689	Shortened sacroiliac notches	0.2	0	0	HPO
1836	SLC26A2	C2673410	Small midface	0.2	0	0	HPO
1836	SLC26A2	C2748653	Chubby cheeks	0.2	0	0	HPO
1836	SLC26A2	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1836	SLC26A2	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1836	SLC26A2	C3806280	Laryngotracheal stenosis	0.2	0	0	HPO
1836	SLC26A2	C3806443	Puffy cheeks	0.2	0	0	HPO
1836	SLC26A2	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1836	SLC26A2	C4020855	Respiratory function loss	0.2	0	0	HPO
1836	SLC26A2	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1836	SLC26A2	C4021390	Symphalangism affecting the phalanges of the hand	0.2	0	0	HPO
1836	SLC26A2	C4021611	Abnormality of epiphysis morphology	0.2	0	0	HPO
1836	SLC26A2	C4021626	Lethal skeletal dysplasia	0.2	0	0	HPO
1836	SLC26A2	C4021743	Abnormality of the patella	0.2	0	0	HPO
1836	SLC26A2	C4021768	Abnormality of metabolism/homeostasis	0.2	0	0	HPO
1836	SLC26A2	C4021785	Abnormality of the metacarpal bones	0.2	0	0	HPO
1836	SLC26A2	C4021792	Abnormality of the clavicle	0.2	0	0	HPO
1836	SLC26A2	C4023720	Cystic lesions of the pinnae	0.2	0	0	HPO
1836	SLC26A2	C4024996	Aplasia/Hypoplasia of the lungs	0.2	0	0	HPO
1836	SLC26A2	C4025052	Dumbbell-shaped femur	0.2	0	0	HPO
1836	SLC26A2	C4025628	Abnormal enchondral ossification	0.2	0	0	HPO
1836	SLC26A2	C4025814	Abnormality of the metaphyses	0.2	0	0	HPO
1836	SLC26A2	C4083076	Increased head circumference	0.2	0	0	HPO
1836	SLC26A2	C4255213	Increased size of skull	0.2	0	0	HPO
1836	SLC26A2	C4280320	Hypotrophic midface	0.2	0	0	HPO
1836	SLC26A2	C4280321	Decreased projection of midface	0.2	0	0	HPO
1836	SLC26A2	C4280495	Concave bridge of nose	0.2	0	0	HPO
1836	SLC26A2	C4280538	Curvature of little finger	0.2	0	0	HPO
1836	SLC26A2	C4280566	Abnormal development of end part of bone	0.2	0	0	HPO
1836	SLC26A2	C4280607	Small wings of the pelvic girdle	0.2	0	0	HPO
1836	SLC26A2	C4280647	Hypertrophy of cheeks	0.2	0	0	HPO
1836	SLC26A2	C4280648	Hyperplasia of cheeks	0.2	0	0	HPO
1836	SLC26A2	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1836	SLC26A2	C4280663	Increased size of cranium	0.2	0	0	HPO
1836	SLC26A2	C4280664	Big calvaria	0.2	0	0	HPO
1837	DTNA	C0004238	Atrial Fibrillation	0.2	0	0	HPO
1837	DTNA	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
1837	DTNA	C0018801	Heart failure	0.2	0	0	HPO
1837	DTNA	C0018802	Congestive heart failure	0.2	0	0	HPO
1837	DTNA	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1837	DTNA	C0026266	Mitral Valve Insufficiency	0.2	0	0	HPO
1837	DTNA	C0085298	Sudden Cardiac Death	0.2	0	0	HPO
1837	DTNA	C0085612	Ventricular arrhythmia	0.2	0	0	HPO
1837	DTNA	C0149721	Left Ventricular Hypertrophy	0.2	0	0	HPO
1837	DTNA	C0152101	Hypoplastic Left Heart Syndrome	0.2	0	0	HPO
1837	DTNA	C1858725	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	0.4	1	1	CTD_human;UNIPROT
1837	DTNA	C1960469	Left ventricular noncompaction	0.4	0	0	HPO;ORPHANET
1837	DTNA	C3551535	Mitral regurgitation, mild	0.2	0	0	HPO
1837	DTNA	C4021133	Left Ventricular Non-Compaction Syndrome	0.200549453568426	0	0	HPO
1840	DTX1	C0028945	oligodendroglioma	0.2	1	0	CTD_human
1840	DTX1	C0887833	Carcinoma, Pancreatic Ductal	0.2	1	0	CTD_human
1843	DUSP1	C0011570	Mental Depression	0.200274726784213	4	0	PSYGENET
1843	DUSP1	C0011581	Depressive disorder	0.200274726784213	5	0	PSYGENET
1843	DUSP1	C0011616	Contact Dermatitis	0.2	1	0	CTD_human
1843	DUSP1	C0014175	Endometriosis	0.2	1	0	CTD_human
1843	DUSP1	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1843	DUSP1	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1845	DUSP3	C0007131	Non-Small Cell Lung Carcinoma	0.200549453568426	1	0	CTD_human
1846	DUSP4	C0011570	Mental Depression	0.2	2	0	PSYGENET
1846	DUSP4	C0011581	Depressive disorder	0.2	2	0	PSYGENET
1846	DUSP4	C3495559	Juvenile arthritis	0.2	1	0	CTD_human
1847	DUSP5	C0020538	Hypertensive disease	0.2	1	0	CTD_human
1848	DUSP6	C0003126	Anosmia	0.2	0	0	HPO
1848	DUSP6	C0003467	Anxiety	0.2	0	0	HPO
1848	DUSP6	C0005586	Bipolar Disorder	0.205689394556528	3	0	PSYGENET
1848	DUSP6	C0010417	Cryptorchidism	0.2	0	0	HPO
1848	DUSP6	C0011570	Mental Depression	0.2	1	0	PSYGENET
1848	DUSP6	C0011581	Depressive disorder	0.4	1	0	HPO;PSYGENET
1848	DUSP6	C0017636	Glioblastoma	0.200274726784213	1	0	CTD_human
1848	DUSP6	C0018418	Gynecomastia	0.2	0	0	HPO
1848	DUSP6	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1848	DUSP6	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1848	DUSP6	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1848	DUSP6	C0029453	Osteopenia	0.2	0	0	HPO
1848	DUSP6	C0029456	Osteoporosis	0.2	0	0	HPO
1848	DUSP6	C0034012	Delayed Puberty	0.2	0	0	HPO
1848	DUSP6	C0036341	Schizophrenia	0.200274726784213	1	0	PSYGENET
1848	DUSP6	C0151721	Testicular hypogonadism	0.2	0	0	HPO
1848	DUSP6	C0151744	Myocardial Ischemia	0.2	1	0	CTD_human
1848	DUSP6	C0162809	Kallmann Syndrome	0.2	0	0	ORPHANET
1848	DUSP6	C0232939	Primary physiologic amenorrhea	0.2	0	0	HPO
1848	DUSP6	C0232940	Secondary physiologic amenorrhea	0.2	0	0	HPO
1848	DUSP6	C0241355	Small testicle	0.2	0	0	HPO
1848	DUSP6	C0242350	Erectile dysfunction	0.2	0	0	HPO
1848	DUSP6	C0266013	Congenital hypoplasia of breast	0.2	0	0	HPO
1848	DUSP6	C0266399	Infantile uterus	0.2	0	0	HPO
1848	DUSP6	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1848	DUSP6	C0271578	Female hypogonadism syndrome	0.2	0	0	HPO
1848	DUSP6	C0271623	Hypogonadotropic hypogonadism	0.2	0	0	HPO
1848	DUSP6	C0520927	Decreased fertility	0.2	0	0	HPO
1848	DUSP6	C0525045	Mood Disorders	0.202681755307501	1	0	PSYGENET
1848	DUSP6	C0541764	Delayed bone age	0.2	0	0	HPO
1848	DUSP6	C0685840	Congenital hypoplasia of ovary	0.2	0	0	HPO
1848	DUSP6	C0747078	Generalized osteopenia	0.2	0	0	HPO
1848	DUSP6	C1563720	Kallmann Syndrome 2 (disorder)	0.2	0	0	ORPHANET
1848	DUSP6	C1827524	Wide spaced nipples	0.2	0	0	HPO
1848	DUSP6	C1835452	Hypoplastic ovary	0.2	0	0	HPO
1848	DUSP6	C1846228	Absence of pubertal development	0.2	0	0	HPO
1848	DUSP6	C1858573	Sparse pubic hair	0.2	0	0	HPO
1848	DUSP6	C1858574	Sparse axillary hair	0.2	0	0	HPO
1848	DUSP6	C1860121	Decreased testosterone in males	0.2	0	0	HPO
1848	DUSP6	C1862863	Sparse body hair	0.2	0	0	HPO
1848	DUSP6	C2364082	Sense of smell impaired	0.2	0	0	HPO
1848	DUSP6	C2674432	Decreased bone mineral density Z score	0.2	0	0	HPO
1848	DUSP6	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
1848	DUSP6	C3808981	HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA	0.2	1	4	UNIPROT
1848	DUSP6	C4020884	Anxiety disease	0.2	0	0	HPO
1848	DUSP6	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1848	DUSP6	C4021107	Non-obstructive azoospermia	0.2	0	0	HPO
1848	DUSP6	C4021551	Absence of secondary sex characteristics	0.2	0	0	HPO
1848	DUSP6	C4021776	Abnormality of the voice	0.2	0	0	HPO
1848	DUSP6	C4022003	Erectile abnormalities	0.2	0	0	HPO
1848	DUSP6	C4022675	Increased female libido	0.2	0	0	HPO
1848	DUSP6	C4025569	Eunuchoid habitus	0.2	0	0	HPO
1848	DUSP6	C4025644	Hypothalamic gonadotropin-releasing hormone deficiency	0.2	0	0	HPO
1848	DUSP6	C4025821	Anterior hypopituitarism	0.2	0	0	HPO
1848	DUSP6	C4025901	Abnormality of body height	0.2	0	0	HPO
185	AGTR1	C0000786	Spontaneous abortion	0.202732912464814	1	0	CTD_human
185	AGTR1	C0003460	Anuria	0.2	0	0	HPO
185	AGTR1	C0011884	Diabetic Retinopathy	0.205414667772315	1	0	CTD_human
185	AGTR1	C0013274	Patent ductus arteriosus	0.203780662444353	2	0	CTD_human
185	AGTR1	C0018801	Heart failure	0.298115933649124	3	0	CTD_human
185	AGTR1	C0020538	Hypertensive disease	0.442969463447542	4	0	CTD_human
185	AGTR1	C0020649	Hypotension	0.2	0	0	HPO
185	AGTR1	C0022658	Kidney Diseases	0.301244828210426	1	0	CTD_human
185	AGTR1	C0027627	Neoplasm Metastasis	0.200274726784213	1	0	CTD_human
185	AGTR1	C0032019	Pituitary Neoplasms	0.2	1	0	CTD_human
185	AGTR1	C0033687	Proteinuria	0.287221085569864	1	0	CTD_human
185	AGTR1	C0035229	Respiratory Insufficiency	0.2	0	0	HPO
185	AGTR1	C0079924	Oligohydramnios	0.2	0	0	HPO
185	AGTR1	C0085580	Essential Hypertension	0.221781605133158	0	0	CTD_human
185	AGTR1	C0162871	Aortic Aneurysm, Abdominal	0.214009387263244	1	0	CTD_human
185	AGTR1	C0265783	Congenital hypoplasia of lung	0.2	0	0	HPO
185	AGTR1	C0266313	Allanson Pantzar McLeod syndrome	0.6	1	5	CTD_human;HPO;ORPHANET;UNIPROT
185	AGTR1	C0266619	Potter's facies	0.2	0	0	HPO
185	AGTR1	C0424688	Small head	0.2	0	0	HPO
185	AGTR1	C0887833	Carcinoma, Pancreatic Ductal	0.2	1	0	CTD_human
185	AGTR1	C1849300	Widely patent fontanels and sutures	0.2	0	0	HPO
185	AGTR1	C3550658	Maternal oligohydramnios	0.2	0	0	HPO
185	AGTR1	C4020855	Respiratory function loss	0.2	0	0	HPO
185	AGTR1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1850	DUSP8	C0001973	Alcoholic Intoxication, Chronic	0.200274726784213	1	0	PSYGENET
1855	DVL1	C0010417	Cryptorchidism	0.2	0	0	HPO
1855	DVL1	C0015300	Exophthalmos	0.2	0	0	HPO
1855	DVL1	C0017566	Gingival Hyperplasia	0.2	0	0	HPO
1855	DVL1	C0017567	Gingival Hypertrophy	0.2	0	0	HPO
1855	DVL1	C0019294	Hernia, Inguinal	0.2	0	0	HPO
1855	DVL1	C0019322	Umbilical hernia	0.2	0	0	HPO
1855	DVL1	C0020295	Hydronephrosis	0.2	0	0	HPO
1855	DVL1	C0020534	Orbital separation excessive	0.2	0	0	HPO
1855	DVL1	C0024421	Macroglossia	0.2	0	0	HPO
1855	DVL1	C0024636	Malocclusion	0.2	0	0	HPO
1855	DVL1	C0025362	Mental Retardation	0.2	0	0	HPO
1855	DVL1	C0025990	Micrognathism	0.2	0	0	HPO
1855	DVL1	C0035619	Ventricular Outflow Obstruction, Right	0.2	0	0	HPO
1855	DVL1	C0040433	Tooth Crowding	0.2	0	0	HPO
1855	DVL1	C0221354	Frontal bossing	0.2	0	0	HPO
1855	DVL1	C0221357	Brachydactyly	0.2	0	0	HPO
1855	DVL1	C0235752	Port-Wine Stain	0.2	0	0	HPO
1855	DVL1	C0239174	Late tooth eruption	0.2	0	0	HPO
1855	DVL1	C0239676	High forehead	0.2	0	0	HPO
1855	DVL1	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1855	DVL1	C0265205	Robinow Syndrome	0.200824180352639	0	0	ORPHANET
1855	DVL1	C0265610	Congenital clinodactyly	0.2	0	0	HPO
1855	DVL1	C0266298	Accessory kidney	0.2	0	0	HPO
1855	DVL1	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1855	DVL1	C0376480	Gingival Overgrowth	0.2	0	0	HPO
1855	DVL1	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1855	DVL1	C0423903	Low intelligence	0.2	0	0	HPO
1855	DVL1	C0426414	Small nose	0.2	0	0	HPO
1855	DVL1	C0426891	Broad thumbs	0.2	0	0	HPO
1855	DVL1	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
1855	DVL1	C0541764	Delayed bone age	0.2	0	0	HPO
1855	DVL1	C0549306	Mesomelia	0.2	0	0	HPO
1855	DVL1	C0557874	Global developmental delay	0.2	0	0	HPO
1855	DVL1	C0566899	Small labia majora	0.2	0	0	HPO
1855	DVL1	C0917816	Mental deficiency	0.2	0	0	HPO
1855	DVL1	C1317785	Tooth size discrepancy	0.2	0	0	HPO
1855	DVL1	C1398301	Short palate	0.2	0	0	HPO
1855	DVL1	C1834060	Short middle phalanx of the 5th finger	0.2	0	0	HPO
1855	DVL1	C1836189	Radially deviated fingers	0.2	0	0	HPO
1855	DVL1	C1837760	Prominent eyes	0.2	0	0	HPO
1855	DVL1	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1855	DVL1	C1839829	Short distal phalanges	0.2	0	0	HPO
1855	DVL1	C1840077	Anteverted nostril	0.2	0	0	HPO
1855	DVL1	C1843108	Short hands	0.2	0	0	HPO
1855	DVL1	C1843367	Poor school performance	0.2	0	0	HPO
1855	DVL1	C1844527	Clitoral hypoplasia	0.2	0	0	HPO
1855	DVL1	C1848490	Protruding eyes	0.2	0	0	HPO
1855	DVL1	C1849340	Long palpebral fissure	0.2	0	0	HPO
1855	DVL1	C1849341	Triangular mouth	0.2	0	0	HPO
1855	DVL1	C1849343	Bifid terminal phalanges	0.2	0	0	HPO
1855	DVL1	C1849367	Nasal bridge wide	0.2	0	0	HPO
1855	DVL1	C1853241	Flat face	0.2	0	0	HPO
1855	DVL1	C1853242	Midface retrusion	0.2	0	0	HPO
1855	DVL1	C1854114	Short nose	0.2	0	0	HPO
1855	DVL1	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1855	DVL1	C1858085	Malar flattening	0.2	0	0	HPO
1855	DVL1	C1862425	Prominent globes	0.2	0	0	HPO
1855	DVL1	C1864897	Cognitive delay	0.2	0	0	HPO
1855	DVL1	C1865014	Long philtrum	0.2	0	0	HPO
1855	DVL1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
1855	DVL1	C1865038	Broad toes	0.2	0	0	HPO
1855	DVL1	C1866134	Wide anterior fontanel	0.2	0	0	HPO
1855	DVL1	C2051831	Pectus excavatum	0.2	0	0	HPO
1855	DVL1	C2673410	Small midface	0.2	0	0	HPO
1855	DVL1	C2677762	Tall forehead	0.2	0	0	HPO
1855	DVL1	C2752013	Prenatal onset	0.2	0	0	HPO
1855	DVL1	C3714756	Intellectual Disability	0.2	0	0	HPO
1855	DVL1	C4020772	Hypoplastic palate	0.2	0	0	HPO
1855	DVL1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1855	DVL1	C4020876	Dull intelligence	0.2	0	0	HPO
1855	DVL1	C4021772	Bifid distal phalanx of toe	0.2	0	0	HPO
1855	DVL1	C4023918	Short hard palate	0.2	0	0	HPO
1855	DVL1	C4083076	Increased head circumference	0.2	0	0	HPO
1855	DVL1	C4255213	Increased size of skull	0.2	0	0	HPO
1855	DVL1	C4280304	Curvature of digit	0.2	0	0	HPO
1855	DVL1	C4280320	Hypotrophic midface	0.2	0	0	HPO
1855	DVL1	C4280321	Decreased projection of midface	0.2	0	0	HPO
1855	DVL1	C4280613	Angle class 3 malocclusion	0.2	0	0	HPO
1855	DVL1	C4280614	Angle class 2 malocclusion	0.2	0	0	HPO
1855	DVL1	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
1855	DVL1	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
1855	DVL1	C4280651	Hypotrophic malar bone	0.2	0	0	HPO
1855	DVL1	C4280663	Increased size of cranium	0.2	0	0	HPO
1855	DVL1	C4280664	Big calvaria	0.2	0	0	HPO
1857	DVL3	C0265205	Robinow Syndrome	0.200274726784213	0	0	ORPHANET
1859	DYRK1A	C0004352	Autistic Disorder	0.200549453568426	0	0	HPO
1859	DYRK1A	C0006386	Bunion	0.2	0	0	HPO
1859	DYRK1A	C0009952	Febrile Convulsions	0.200274726784213	0	0	HPO
1859	DYRK1A	C0014306	Enophthalmos	0.2	0	0	HPO
1859	DYRK1A	C0018536	Hallux Valgus	0.2	0	0	HPO
1859	DYRK1A	C0025362	Mental Retardation	0.202472541057918	0	0	HPO
1859	DYRK1A	C0235946	Cerebral atrophy	0.2	0	0	HPO
1859	DYRK1A	C0423224	Sunken eyes	0.2	0	0	HPO
1859	DYRK1A	C0423903	Low intelligence	0.2	0	0	HPO
1859	DYRK1A	C0424688	Small head	0.2	0	0	HPO
1859	DYRK1A	C0917816	Mental deficiency	0.2	0	0	HPO
1859	DYRK1A	C1837397	Global developmental delay, severe	0.2	0	0	HPO
1859	DYRK1A	C1839758	Narrow forehead	0.2	0	0	HPO
1859	DYRK1A	C1843367	Poor school performance	0.2	0	0	HPO
1859	DYRK1A	C1854919	Severe psychomotor retardation	0.2	0	0	HPO
1859	DYRK1A	C1867873	Failure to thrive in infancy	0.2	0	0	HPO
1859	DYRK1A	C3714756	Intellectual Disability	0.204120901763196	0	0	HPO
1859	DYRK1A	C4020876	Dull intelligence	0.2	0	0	HPO
1861	TOR1A	C0005747	Blepharospasm	0.202407028523288	0	0	HPO
1861	TOR1A	C0011581	Depressive disorder	0.2	0	0	HPO
1861	TOR1A	C0013362	Dysarthria	0.2	0	0	HPO
1861	TOR1A	C0013421	Dystonia	0.292856122274185	3	0	CTD_human
1861	TOR1A	C0013423	Dystonia Musculorum Deformans	0.225990465833663	0	0	HPO
1861	TOR1A	C0022821	Kyphosis deformity of spine	0.2	0	0	HPO
1861	TOR1A	C0024003	Lordosis	0.2	0	0	HPO
1861	TOR1A	C0026826	Muscle Hypertonia	0.2	0	0	HPO
1861	TOR1A	C0026827	Muscle hypotonia	0.2	0	0	HPO
1861	TOR1A	C0037932	Curvature of spine	0.2	0	0	HPO
1861	TOR1A	C0040485	Torticollis	0.202681755307501	0	0	HPO
1861	TOR1A	C0040822	Tremor	0.2	0	0	HPO
1861	TOR1A	C0152116	Spasmodic torticollis	0.2	0	0	HPO
1861	TOR1A	C0154676	Organic writer's cramp	0.202472541057918	0	0	HPO
1861	TOR1A	C0221480	Recurrent depression	0.200274726784213	1	0	PSYGENET
1861	TOR1A	C0231471	Abnormal posture	0.2	0	0	HPO
1861	TOR1A	C0393593	Dystonia Disorders	0.259888760226832	1	1	CTD_human
1861	TOR1A	C0393598	Idiopathic familial dystonia	0.2	0	0	ORPHANET
1861	TOR1A	C0575081	Gait abnormality	0.2	0	0	HPO
1861	TOR1A	C0700208	Acquired scoliosis	0.2	0	0	HPO
1861	TOR1A	C0949445	Cervical Dystonia	0.201923087489492	0	0	HPO
1861	TOR1A	C1834570	Myoclonic dystonia	0.202472541057918	0	0	ORPHANET
1861	TOR1A	C1845112	Hyperkyphosis	0.2	0	0	HPO
1861	TOR1A	C1851945	DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	0.282197814273705	2	4	UNIPROT
1861	TOR1A	C3888090	Early onset torsion dystonia	0.217307787405425	0	0	CTD_human
1861	TOR1A	C4021776	Abnormality of the voice	0.2	0	0	HPO
1869	E2F1	C0025202	melanoma	0.213143819510277	2	0	CTD_human
1869	E2F1	C1458155	Mammary Neoplasms	0.214214015892495	1	0	CTD_human
1869	E2F1	C2239176	Liver carcinoma	0.207417623173754	2	0	CTD_human
1879	EBF1	C0007621	Neoplastic Cell Transformation	0.2	1	0	CTD_human
1879	EBF1	C0024301	Lymphoma, Follicular	0.2	1	0	CTD_human
1879	EBF1	C0035222	Respiratory Distress Syndrome, Adult	0.2	1	0	CTD_human
1880	GPR183	C0017661	IGA Glomerulonephritis	0.2	1	0	CTD_human
1880	GPR183	C0023493	Adult T-Cell Lymphoma/Leukemia	0.2	1	0	CTD_human
1889	ECE1	C0000737	Abdominal Pain	0.2	0	0	HPO
1889	ECE1	C0009806	Constipation	0.2	0	0	HPO
1889	ECE1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.2	1	0	CTD_human
1889	ECE1	C0013274	Patent ductus arteriosus	0.2	0	0	HPO
1889	ECE1	C0013363	Dysautonomia	0.2	0	0	HPO
1889	ECE1	C0018798	Congenital Heart Defects	0.200274726784213	2	0	CTD_human
1889	ECE1	C0018817	Atrial Septal Defects	0.2	0	0	HPO
1889	ECE1	C0018818	Ventricular Septal Defects	0.2	0	0	HPO
1889	ECE1	C0019569	Hirschsprung Disease	0.600274726784213	1	0	CTD_human;HPO;ORPHANET
1889	ECE1	C0020538	Hypertensive disease	0.283831819601666	1	0	CTD_human
1889	ECE1	C0021843	Intestinal Obstruction	0.2	0	0	HPO
1889	ECE1	C0025160	Megacolon	0.2	0	0	HPO
1889	ECE1	C0027498	Nausea and vomiting	0.2	0	0	HPO
1889	ECE1	C0085580	Essential Hypertension	0.200274726784213	0	0	CTD_human
1889	ECE1	C0237326	Dyschezia	0.2	0	0	HPO
1889	ECE1	C0240543	Bulbous nose	0.2	0	0	HPO
1889	ECE1	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
1889	ECE1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1889	ECE1	C0423807	Overcurvature of nail	0.2	0	0	HPO
1889	ECE1	C0426414	Small nose	0.2	0	0	HPO
1889	ECE1	C0426886	Tapering fingers (finding)	0.2	0	0	HPO
1889	ECE1	C0431478	Posteriorly rotated ear	0.2	0	0	HPO
1889	ECE1	C1145628	Autonomic nervous system disorders	0.4	1	0	CTD_human;HPO
1889	ECE1	C1262477	Weight decreased	0.2	0	0	HPO
1889	ECE1	C1834118	Potato nose	0.2	0	0	HPO
1889	ECE1	C1845447	Cupped ears (finding)	0.2	0	0	HPO
1889	ECE1	C1854114	Short nose	0.2	0	0	HPO
1889	ECE1	C1855751	Bulbous nasal tip	0.2	0	0	HPO
1889	ECE1	C2108146	Contractures of the interphalangeal joint of the thumb	0.2	0	0	HPO
1889	ECE1	C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	0.2	1	1	UNIPROT
1889	ECE1	C4020892	Capuchin ears	0.2	0	0	HPO
189	AGXT	C0004245	Atrioventricular Block	0.2	0	0	HPO
189	AGXT	C0016663	Pathological fracture	0.2	0	0	HPO
189	AGXT	C0017086	Gangrene	0.2	0	0	HPO
189	AGXT	C0018965	Hematuria	0.2	0	0	HPO
189	AGXT	C0020500	Hyperoxaluria	0.204055389228567	0	0	HPO
189	AGXT	C0021775	Intermittent Claudication	0.2	0	0	HPO
189	AGXT	C0027709	Nephrocalcinosis	0.200824180352639	0	0	HPO
189	AGXT	C0029124	Optic Atrophy	0.2	0	0	HPO
189	AGXT	C0029464	Osteosclerosis	0.2	0	0	HPO
189	AGXT	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
189	AGXT	C0035078	Kidney Failure	0.202472541057918	0	0	HPO
189	AGXT	C0035309	Retinal Diseases	0.2	0	0	HPO
189	AGXT	C0151825	Bone pain	0.2	0	0	HPO
189	AGXT	C0220981	Metabolic acidosis	0.2	0	0	HPO
189	AGXT	C0221347	Acrocyanosis	0.2	0	0	HPO
189	AGXT	C0263401	Cutis marmorata	0.2	0	0	HPO
189	AGXT	C0268164	Primary hyperoxaluria, type I	0.69950560167913	10	164	CTD_human;ORPHANET;UNIPROT
189	AGXT	C0442874	Neuropathy	0.2	0	0	HPO
189	AGXT	C0750145	vascular disease occlusive	0.2	0	0	HPO
189	AGXT	C1306889	Peripheral arterial occlusive disease	0.2	0	0	HPO
189	AGXT	C1401086	Peripheral vascular insufficiency	0.2	0	0	HPO
189	AGXT	C1565489	Renal Insufficiency	0.2	0	0	HPO
189	AGXT	C1833683	NEPHROLITHIASIS, CALCIUM OXALATE	0.2	0	0	HPO
189	AGXT	C1839604	Renal failure in adulthood	0.2	0	0	HPO
189	AGXT	C1841659	Atrioventricular nodal disease	0.2	0	0	HPO
189	AGXT	C3887709	Optic Neuropathy	0.2	0	0	HPO
189	AGXT	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
189	AGXT	C4072992	Retinal crystals	0.2	0	0	HPO
189	AGXT	C4280679	Increased calcium level in kidney	0.2	0	0	HPO
189	AGXT	C4280806	Calcium oxalate kidney stones	0.2	0	0	HPO
1890	TYMP	C0000737	Abdominal Pain	0.2	0	0	HPO
1890	TYMP	C0001125	Acidosis, Lactic	0.2	0	0	HPO
1890	TYMP	C0005695	Bladder Neoplasm	0.203831819601666	2	0	CTD_human
1890	TYMP	C0005745	Blepharoptosis	0.2	0	0	HPO
1890	TYMP	C0006625	Cachexia	0.2	0	0	HPO
1890	TYMP	C0009375	Colonic Neoplasms	0.2	1	0	CTD_human
1890	TYMP	C0009404	Colorectal Neoplasms	0.214214015892495	2	0	CTD_human
1890	TYMP	C0009806	Constipation	0.2	0	0	HPO
1890	TYMP	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1890	TYMP	C0027627	Neoplasm Metastasis	0.21096036061389	1	0	CTD_human
1890	TYMP	C0030297	Pancreatic Neoplasm	0.2	1	0	CTD_human
1890	TYMP	C0038356	Stomach Neoplasms	0.210931649859255	1	0	CTD_human
1890	TYMP	C0042963	Vomiting	0.2	0	0	HPO
1890	TYMP	C0152020	Gastroparesis	0.2	0	0	HPO
1890	TYMP	C0162429	Malnutrition	0.2	0	0	HPO
1890	TYMP	C0162670	Mitochondrial Myopathies	0.200549453568426	0	0	HPO
1890	TYMP	C0162674	Chronic progressive external ophthalmoplegia	0.200274726784213	0	0	HPO
1890	TYMP	C0234146	Absent reflex	0.2	0	0	HPO
1890	TYMP	C0237326	Dyschezia	0.2	0	0	HPO
1890	TYMP	C0239181	Intermittent diarrhea	0.2	0	0	HPO
1890	TYMP	C0241772	Reflex, Deep Tendon, Absent	0.2	0	0	HPO
1890	TYMP	C0270612	Leukoencephalopathies	0.200824180352639	0	0	HPO
1890	TYMP	C0278124	Absent tendon reflex	0.2	0	0	HPO
1890	TYMP	C0279626	Squamous cell carcinoma of esophagus	0.200274726784213	1	0	CTD_human
1890	TYMP	C0347959	Lactic acidemia	0.2	0	0	HPO
1890	TYMP	C0427065	Distal muscle weakness	0.2	0	0	HPO
1890	TYMP	C0872218	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME	0.603296721410557	4	15	CTD_human;ORPHANET;UNIPROT
1890	TYMP	C1836923	Gastrointestinal dysmotility	0.2	0	0	HPO
1890	TYMP	C1847584	Distal sensory impairment	0.2	0	0	HPO
1890	TYMP	C1848736	Distal amyotrophy	0.2	0	0	HPO
1890	TYMP	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
1890	TYMP	C1864985	Progressive disorder	0.2	0	0	HPO
1890	TYMP	C2749861	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)	0.2	0	0	ORPHANET
1890	TYMP	C3150914	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	0.2	0	0	ORPHANET
1890	TYMP	C3275417	Ragged-red fibers	0.2	0	0	HPO
1890	TYMP	C3277376	Multiple mitochondrial DNA (mtDNA) deletions	0.2	0	0	HPO
1890	TYMP	C3714745	Malabsorption	0.2	0	0	HPO
1890	TYMP	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1890	TYMP	C4020908	Hypointensity of cerebral white matter on MRI	0.2	0	0	HPO
1890	TYMP	C4021724	Decreased activity of cytochrome C oxidase in muscle tissue	0.2	0	0	HPO
1890	TYMP	C4022012	Death in early adulthood	0.2	0	0	HPO
1890	TYMP	C4025597	Subsarcolemmal accumulations of abnormally shaped mitochondria	0.2	0	0	HPO
1892	ECHS1	C0001973	Alcoholic Intoxication, Chronic	0.2	1	0	PSYGENET
1892	ECHS1	C0003578	Apnea	0.2	0	0	HPO
1892	ECHS1	C0023264	Leigh Disease	0.200824180352639	0	0	ORPHANET
1892	ECHS1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1892	ECHS1	C0026838	Muscle Spasticity	0.2	0	0	HPO
1892	ECHS1	C0028738	Nystagmus	0.2	0	0	HPO
1892	ECHS1	C0028754	Obesity	0.2	1	0	CTD_human
1892	ECHS1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1892	ECHS1	C0557874	Global developmental delay	0.2	0	0	HPO
1892	ECHS1	C1167918	CSF lactate increased	0.2	0	0	HPO
1892	ECHS1	C1836440	Increased serum lactate	0.2	0	0	HPO
1892	ECHS1	C1864897	Cognitive delay	0.2	0	0	HPO
1892	ECHS1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1892	ECHS1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1892	ECHS1	C4225391	MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	0.2	5	13	UNIPROT
1893	ECM1	C0000786	Spontaneous abortion	0.2	1	0	CTD_human
1893	ECM1	C0001807	Aggressive behavior	0.2	0	0	HPO
1893	ECM1	C0002170	Alopecia	0.2	0	0	HPO
1893	ECM1	C0008767	Cicatrization	0.2	0	0	HPO
1893	ECM1	C0009324	Ulcerative Colitis	0.207337755261807	1	0	CTD_human
1893	ECM1	C0011168	Deglutition Disorders	0.2	0	0	HPO
1893	ECM1	C0013421	Dystonia	0.2	0	0	HPO
1893	ECM1	C0014544	Epilepsy	0.2	0	0	HPO
1893	ECM1	C0018524	Hallucinations	0.2	0	0	HPO
1893	ECM1	C0019825	Hoarseness	0.200274726784213	0	0	HPO
1893	ECM1	C0023795	Lipoid Proteinosis of Urbach and Wiethe	0.606593442821114	1	9	CTD_human;ORPHANET;UNIPROT
1893	ECM1	C0025988	Microglossia	0.2	0	0	HPO
1893	ECM1	C0036572	Seizures	0.2	0	0	HPO
1893	ECM1	C0037268	Skin Abnormalities	0.2	0	0	HPO
1893	ECM1	C0037274	Dermatologic disorders	0.200549453568426	0	0	HPO
1893	ECM1	C0151811	Subcutaneous nodule	0.2	0	0	HPO
1893	ECM1	C0233794	Memory impairment	0.2	0	0	HPO
1893	ECM1	C0235153	Hallucinations, Sensory	0.2	0	0	HPO
1893	ECM1	C0240635	Byzanthine arch palate	0.2	0	0	HPO
1893	ECM1	C0241054	Skin bulla	0.2	0	0	HPO
1893	ECM1	C0241157	pustule	0.2	0	0	HPO
1893	ECM1	C0241438	Tongue nodules	0.2	0	0	HPO
1893	ECM1	C0332563	Papule	0.2	0	0	HPO
1893	ECM1	C0424323	Physical aggression	0.2	0	0	HPO
1893	ECM1	C0426492	Small tongue	0.2	0	0	HPO
1893	ECM1	C0542346	Pimples	0.2	0	0	HPO
1893	ECM1	C0542476	Forgetful	0.2	0	0	HPO
1893	ECM1	C0574769	Loss of scalp hair	0.2	0	0	HPO
1893	ECM1	C0702166	Acne	0.2	0	0	HPO
1893	ECM1	C0746926	Multiple, subcutaneous nodules	0.2	0	0	HPO
1893	ECM1	C0751295	Memory Loss	0.2	0	0	HPO
1893	ECM1	C0870082	Hyperkeratosis	0.2	0	0	HPO
1893	ECM1	C1456784	Paranoia	0.2	0	0	HPO
1893	ECM1	C1457883	Aggressive reaction	0.2	0	0	HPO
1893	ECM1	C1839739	Prominent lower lip	0.2	0	0	HPO
1893	ECM1	C1850535	Absent scalp hair	0.2	0	0	HPO
1893	ECM1	C1862862	Patchy alopecia	0.2	0	0	HPO
1893	ECM1	C2053437	Full lower lip	0.2	0	0	HPO
1893	ECM1	C2132198	Abnormal blistering of the skin	0.2	0	0	HPO
1893	ECM1	C2220104	Blister of skin	0.2	0	0	HPO
1893	ECM1	C3665596	Warts	0.2	0	0	HPO
1893	ECM1	C3806482	Recurrent respiratory infections	0.2	0	0	HPO
1893	ECM1	C4020871	Dystonic disease	0.2	0	0	HPO
1893	ECM1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1893	ECM1	C4021816	Abnormality of the gingiva	0.2	0	0	HPO
1893	ECM1	C4025159	Bilateral intracranial calcifications	0.2	0	0	HPO
1894	ECT2	C0023893	Liver Cirrhosis, Experimental	0.2	1	0	CTD_human
1896	EDA	C0003028	Anhidrosis	0.200274726784213	0	0	HPO
1896	EDA	C0013595	Eczema	0.2	0	0	HPO
1896	EDA	C0015967	Fever	0.2	0	0	HPO
1896	EDA	C0019825	Hoarseness	0.2	0	0	HPO
1896	EDA	C0020608	Hypodontia	0.405219808900049	0	0	HPO;ORPHANET
1896	EDA	C0020620	Hypohidrosis	0.2	0	0	HPO
1896	EDA	C0020678	Hypotrichosis	0.200274726784213	0	0	HPO
1896	EDA	C0025202	melanoma	0.2	1	0	CTD_human
1896	EDA	C0025990	Micrognathism	0.2	0	0	HPO
1896	EDA	C0151908	Dry skin	0.2	0	0	HPO
1896	EDA	C0162359	Christ-Siemens-Touraine syndrome	0.612912158858016	25	21	CTD_human;HPO;ORPHANET;UNIPROT
1896	EDA	C0221261	Koilonychia	0.2	0	0	HPO
1896	EDA	C0221354	Frontal bossing	0.2	0	0	HPO
1896	EDA	C0231274	Intolerant of heat	0.2	0	0	HPO
1896	EDA	C0239174	Late tooth eruption	0.2	0	0	HPO
1896	EDA	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1896	EDA	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
1896	EDA	C0240340	Microdontia (disorder)	0.2	0	0	HPO
1896	EDA	C0241178	Velvety skin	0.2	0	0	HPO
1896	EDA	C0259817	Xerosis	0.2	0	0	HPO
1896	EDA	C0263490	Brittle hair	0.2	0	0	HPO
1896	EDA	C0266037	Peg-shaped teeth	0.2	0	0	HPO
1896	EDA	C0266039	Taurodontism	0.2	0	0	HPO
1896	EDA	C0423757	Thin skin	0.2	0	0	HPO
1896	EDA	C0425795	Absent nipple (finding)	0.2	0	0	HPO
1896	EDA	C0426414	Small nose	0.2	0	0	HPO
1896	EDA	C0431448	Absent eyebrow	0.2	0	0	HPO
1896	EDA	C0432355	Hypoplasia of nipple	0.2	0	0	HPO
1896	EDA	C0476273	Respiratory distress	0.2	0	0	HPO
1896	EDA	C0578682	Madarosis of eyebrow	0.2	0	0	HPO
1896	EDA	C1527344	Dysphonia	0.2	0	0	HPO
1896	EDA	C1832446	Sparse eyebrow	0.2	0	0	HPO
1896	EDA	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
1896	EDA	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1896	EDA	C1836543	Thick vermilion border	0.2	0	0	HPO
1896	EDA	C1839323	Small chin	0.2	0	0	HPO
1896	EDA	C1842060	Prominent supraorbital ridges	0.2	0	0	HPO
1896	EDA	C1842876	Depressed nasal ridge	0.2	0	0	HPO
1896	EDA	C1843300	Sparse eyelashes	0.2	0	0	HPO
1896	EDA	C1844592	Soft skin	0.2	0	0	HPO
1896	EDA	C1844605	Periorbital wrinkles	0.2	0	0	HPO
1896	EDA	C1844606	Periorbital hyperpigmentation	0.2	0	0	HPO
1896	EDA	C1844617	Hypoplastic-absent sebaceous glands	0.2	0	0	HPO
1896	EDA	C1844618	Hypoplastic-absent eccrine sweat glands	0.2	0	0	HPO
1896	EDA	C1845977	X- linked recessive	0.2	0	0	HPO
1896	EDA	C1847879	X-linked dominant	0.2	0	0	HPO
1896	EDA	C1848765	Sparse/absent eyebrows	0.2	0	0	HPO
1896	EDA	C1851868	Reduced tensile strength of hair	0.2	0	0	HPO
1896	EDA	C1853246	Everted lower lip vermilion	0.2	0	0	HPO
1896	EDA	C1854114	Short nose	0.2	0	0	HPO
1896	EDA	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1896	EDA	C1862863	Sparse body hair	0.2	0	0	HPO
1896	EDA	C1866234	Protruding lower lip	0.2	0	0	HPO
1896	EDA	C1970705	Fragile hair	0.2	0	0	HPO
1896	EDA	C1970757	Tooth Agenesis, Selective, X-Linked, 1	0.4	6	8	CTD_human;UNIPROT
1896	EDA	C2266639	Absence of eyebrows	0.2	0	0	HPO
1896	EDA	C3275452	Protruding upper lip	0.2	0	0	HPO
1896	EDA	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1896	EDA	C3551430	Sparse or absent eyebrows	0.2	0	0	HPO
1896	EDA	C3697248	Short lower third of face	0.2	0	0	HPO
1896	EDA	C4012359	Pointed teeth	0.2	0	0	HPO
1896	EDA	C4021956	Aplasia/Hypoplasia of the eyebrow	0.2	0	0	HPO
1896	EDA	C4023170	Abnormality of oral mucosa	0.2	0	0	HPO
1896	EDA	C4023698	Everted upper lip vermilion	0.2	0	0	HPO
1896	EDA	C4072837	Fractured hair	0.2	0	0	HPO
1896	EDA	C4082243	Maxillary retrognathia	0.2	0	0	HPO
1896	EDA	C4082304	Oligodontia	0.402747267842131	0	0	HPO;ORPHANET
1896	EDA	C4280363	Drooping upper lip	0.2	0	0	HPO
1896	EDA	C4280495	Concave bridge of nose	0.2	0	0	HPO
1896	EDA	C4280581	Aplasia of eyebrows	0.2	0	0	HPO
1896	EDA	C4280582	Agenesis of eyebrows	0.2	0	0	HPO
1896	EDA	C4280611	Decreased size of teeth	0.2	0	0	HPO
1896	EDA	C4280612	Decreased width of tooth	0.2	0	0	HPO
1896	EDA	C4280616	Large elongated pulp chamber	0.2	0	0	HPO
1896	EDA	C4280619	Missing more than six teeth	0.2	0	0	HPO
1896	EDA	C4280636	Hypertrophy of supraorbital ridge	0.2	0	0	HPO
1896	EDA	C4280637	Hypertrophy of supraorbital margins	0.2	0	0	HPO
1896	EDA	C4280638	Hyperplasia of supraorbital ridge	0.2	0	0	HPO
1896	EDA	C4280639	Hyperplasia of supraorbital margins	0.2	0	0	HPO
1896	EDA	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
1896	EDA	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
1896	EDA	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
1896	EDA	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
19	ABCA1	C0000737	Abdominal Pain	0.2	0	0	HPO
19	ABCA1	C0002871	Anemia	0.200274726784213	0	0	HPO
19	ABCA1	C0004153	Atherosclerosis	0.26675707777394	1	0	CTD_human
19	ABCA1	C0009404	Colorectal Neoplasms	0.2	1	0	CTD_human
19	ABCA1	C0010038	Corneal Opacity	0.2	0	0	HPO
19	ABCA1	C0013592	Ectropion	0.2	0	0	HPO
19	ABCA1	C0019209	Hepatomegaly	0.2	0	0	HPO
19	ABCA1	C0019214	Hepatosplenomegaly	0.2	0	0	HPO
19	ABCA1	C0020443	Hypercholesterolemia	0.210778178387317	1	0	CTD_human
19	ABCA1	C0020445	Hypercholesterolemia, Familial	0.203780662444353	1	0	CTD_human
19	ABCA1	C0022661	Kidney Failure, Chronic	0.202681755307501	1	0	CTD_human
19	ABCA1	C0023895	Liver diseases	0.2	0	0	HPO
19	ABCA1	C0027051	Myocardial Infarction	0.220248235388199	0	0	HPO
19	ABCA1	C0031117	Peripheral Neuropathy	0.2	1	0	CTD_human
19	ABCA1	C0036341	Schizophrenia	0.204055389228567	1	0	PSYGENET
19	ABCA1	C0038002	Splenomegaly	0.2	0	0	HPO
19	ABCA1	C0039292	Tangier Disease	0.719162996098574	19	20	CTD_human;ORPHANET;UNIPROT
19	ABCA1	C0042798	Low Vision	0.2	0	0	HPO
19	ABCA1	C0043325	Xanthomatosis	0.2	0	0	HPO
19	ABCA1	C0149721	Left Ventricular Hypertrophy	0.2	0	0	HPO
19	ABCA1	C0151691	High density lipoprotein decreased	0.2	0	0	HPO
19	ABCA1	C0151718	Hypocholesterolemia	0.200274726784213	0	0	HPO
19	ABCA1	C0151908	Dry skin	0.2	0	0	HPO
19	ABCA1	C0162119	Hemoglobin low	0.2	0	0	HPO
19	ABCA1	C0221260	Dystrophia unguium	0.2	0	0	HPO
19	ABCA1	C0242231	Coronary Stenosis	0.205088783830789	0	0	HPO
19	ABCA1	C0259817	Xerosis	0.2	0	0	HPO
19	ABCA1	C0270921	Axonal neuropathy	0.2	0	0	HPO
19	ABCA1	C0342898	Apolipoprotein A-I deficiency	0.2	0	0	ORPHANET
19	ABCA1	C0344232	Blurred vision	0.2	0	0	HPO
19	ABCA1	C0375206	Hemiplegia and hemiparesis	0.2	0	0	HPO
19	ABCA1	C0423250	Corneal stromal opacities	0.2	0	0	HPO
19	ABCA1	C0427065	Distal muscle weakness	0.2	0	0	HPO
19	ABCA1	C0473527	Hypoalphalipoproteinemias	0.407063028477594	0	0	CTD_human;HPO
19	ABCA1	C0476403	Electromyogram abnormal	0.2	0	0	HPO
19	ABCA1	C0497156	Lymphadenopathy	0.2	0	0	HPO
19	ABCA1	C0521719	Clouding of corneal stroma	0.2	0	0	HPO
19	ABCA1	C0700078	Decreased tendon reflex	0.2	0	0	HPO
19	ABCA1	C0745103	Hyperlipoproteinemia Type IIa	0.201098907136852	0	0	CTD_human
19	ABCA1	C0878575	Peripheral demyelination	0.2	0	0	HPO
19	ABCA1	C1263857	Peripheral axonal neuropathy	0.2	0	0	HPO
19	ABCA1	C1522137	Hypertriglyceridemia result	0.202407028523288	0	0	HPO
19	ABCA1	C1704429	Hypoalphalipoproteinemia, Familial	0.40796707674218	4	6	ORPHANET;UNIPROT
19	ABCA1	C1834405	Nail dysplasia	0.2	0	0	HPO
19	ABCA1	C1836003	Facial diplegia	0.2	0	0	HPO
19	ABCA1	C1837522	Decreased pain sensation	0.2	0	0	HPO
19	ABCA1	C1848736	Distal amyotrophy	0.2	0	0	HPO
19	ABCA1	C1849618	Accelerated atherosclerosis	0.2	0	0	HPO
19	ABCA1	C1856661	Cloudy cornea	0.2	0	0	HPO
19	ABCA1	C1858970	Chronic noninfectious lymphadenopathy	0.2	0	0	HPO
19	ABCA1	C1859178	Progressive peripheral neuropathy	0.2	0	0	HPO
19	ABCA1	C1864696	Distal limb muscle weakness due to peripheral neuropathy	0.2	0	0	HPO
19	ABCA1	C2931838	Familial HDL deficiency	0.205219808900049	2	0	CTD_human
19	ABCA1	C3665347	Visual Impairment	0.2	0	0	HPO
19	ABCA1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
19	ABCA1	C4021222	Impaired temperature sensation	0.2	0	0	HPO
19	ABCA1	C4021780	Abnormality of the liver	0.2	0	0	HPO
19	ABCA1	C4280504	Accelerated plaque build-up in arteries	0.2	0	0	HPO
19	ABCA1	C4280753	Orange discoloured tonsils	0.2	0	0	HPO
190	NR0B1	C0004509	Azoospermia	0.200824180352639	0	0	HPO
190	NR0B1	C0010417	Cryptorchidism	0.2	0	0	HPO
190	NR0B1	C0011175	Dehydration	0.200274726784213	0	0	HPO
190	NR0B1	C0018051	Gonadal Dysgenesis	0.201648360705279	0	0	HPO
190	NR0B1	C0018055	Gonadal Dysgenesis, Mixed	0.2	0	0	HPO
190	NR0B1	C0018418	Gynecomastia	0.2	0	0	HPO
190	NR0B1	C0020595	Hypoaldosteronism	0.200274726784213	0	0	HPO
190	NR0B1	C0020625	Hyponatremia	0.200274726784213	0	0	HPO
190	NR0B1	C0021364	Male infertility	0.2	0	0	HPO
190	NR0B1	C0026850	Muscular Dystrophy	0.200274726784213	0	0	HPO
190	NR0B1	C0029456	Osteoporosis	0.2	0	0	HPO
190	NR0B1	C0032460	Polycystic Ovary Syndrome	0.2	0	0	HPO
190	NR0B1	C0034012	Delayed Puberty	0.2	0	0	HPO
190	NR0B1	C0151639	Decreased fertility in females	0.2	0	0	HPO
190	NR0B1	C0156394	Hypertrophy of clitoris	0.2	0	0	HPO
190	NR0B1	C0162834	Hyperpigmentation	0.2	0	0	HPO
190	NR0B1	C0220766	Congenital hypoplasia of adrenal gland	0.70390123022654	13	8	CTD_human;ORPHANET;UNIPROT
190	NR0B1	C0231246	Failure to gain weight	0.2	0	0	HPO
190	NR0B1	C0232939	Primary physiologic amenorrhea	0.2	0	0	HPO
190	NR0B1	C0238395	Male Pseudohermaphroditism	0.200274726784213	0	0	HPO
190	NR0B1	C0241011	Low serum estradiol levels	0.2	0	0	HPO
190	NR0B1	C0241355	Small testicle	0.2	0	0	HPO
190	NR0B1	C0266362	Ambiguous Genitalia	0.200274726784213	0	0	HPO
190	NR0B1	C0266371	Streak ovary	0.2	0	0	HPO
190	NR0B1	C0266427	Testicular regression syndrome	0.2	0	0	HPO
190	NR0B1	C0266435	Congenital hypoplasia of penis	0.2	0	0	HPO
190	NR0B1	C0271623	Hypogonadotropic hypogonadism	0.218956148110704	0	0	HPO
190	NR0B1	C0302885	Testicular dysgenesis	0.2	0	0	HPO
190	NR0B1	C0342491	Small adrenal gland	0.2	0	0	HPO
190	NR0B1	C0345309	Hypoplasia of vagina	0.2	0	0	HPO
190	NR0B1	C0687149	Pure gonadal dysgenesis	0.2	0	0	HPO
190	NR0B1	C0948896	Primary hypogonadism	0.2	0	0	HPO
190	NR0B1	C1136382	Sclerocystic Ovaries	0.2	0	0	HPO
190	NR0B1	C1442988	Rudimentary vagina	0.2	0	0	HPO
190	NR0B1	C1691215	Penile hypospadias	0.2	0	0	HPO
190	NR0B1	C1836623	Low to undetectable plasma cortisol	0.2	0	0	HPO
190	NR0B1	C1845977	X- linked recessive	0.2	0	0	HPO
190	NR0B1	C1846223	Adrenal hypoplasia	0.2	0	0	HPO
190	NR0B1	C1846226	Mineralocorticoid insufficiency	0.2	0	0	HPO
190	NR0B1	C1846228	Absence of pubertal development	0.2	0	0	HPO
190	NR0B1	C1846347	Renal salt wasting	0.2	0	0	HPO
190	NR0B1	C1848178	Female external genitalia in males	0.2	0	0	HPO
190	NR0B1	C1848296	DOSAGE-SENSITIVE SEX REVERSAL	0.204670355331623	0	0	CTD_human
190	NR0B1	C1858573	Sparse pubic hair	0.2	0	0	HPO
190	NR0B1	C1858574	Sparse axillary hair	0.2	0	0	HPO
190	NR0B1	C1860121	Decreased testosterone in males	0.2	0	0	HPO
190	NR0B1	C1864711	Muscle biopsy shows dystrophic changes	0.2	0	0	HPO
190	NR0B1	C2315100	Pediatric failure to thrive	0.200274726784213	0	0	HPO
190	NR0B1	C2936694	Swyer Syndrome	0.2	0	0	ORPHANET
190	NR0B1	C3489396	Hypogonadism, Isolated Hypogonadotropic	0.2	0	0	HPO
190	NR0B1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
190	NR0B1	C4021550	Elevated follicle stimulating hormone	0.2	0	0	HPO
190	NR0B1	C4021972	Urogenital sinus anomaly	0.2	0	0	HPO
190	NR0B1	C4022995	Sex reversal	0.2	0	0	HPO
190	NR0B1	C4022996	Abnormal sex determination	0.2	0	0	HPO
190	NR0B1	C4023101	Elevated luteinizing hormone	0.2	0	0	HPO
190	NR0B1	C4025892	Abnormality of the labia	0.2	0	0	HPO
190	NR0B1	C4025895	Abnormality of the scrotum	0.2	0	0	HPO
1902	LPAR1	C0018273	Growth Disorders	0.2	1	0	CTD_human
1902	LPAR1	C0023467	Leukemia, Myelocytic, Acute	0.2	1	0	CTD_human
1902	LPAR1	C0033578	Prostatic Neoplasms	0.205465824929628	1	0	CTD_human
1902	LPAR1	C0036341	Schizophrenia	0.2	1	0	PSYGENET
1902	LPAR1	C0376634	Craniofacial Abnormalities	0.2	1	0	CTD_human
1902	LPAR1	C0553757	Olfaction Disorders	0.2	1	0	CTD_human
1902	LPAR1	C1458155	Mammary Neoplasms	0.205740551713841	1	0	CTD_human
1907	EDN2	C0020649	Hypotension	0.2	1	0	CTD_human
1907	EDN2	C0428977	Bradycardia	0.2	1	0	CTD_human
1909	EDNRA	C0008925	Cleft Palate	0.2	0	0	HPO
1909	EDNRA	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200549453568426	1	0	CTD_human
1909	EDNRA	C0018777	Conductive hearing loss	0.2	0	0	HPO
1909	EDNRA	C0018798	Congenital Heart Defects	0.200274726784213	1	0	CTD_human
1909	EDNRA	C0019284	Diaphragmatic Hernia	0.2	2	0	CTD_human
1909	EDNRA	C0020538	Hypertensive disease	0.213250719445235	1	0	CTD_human
1909	EDNRA	C0025990	Micrognathism	0.2	0	0	HPO
1909	EDNRA	C0027439	Nasopharyngeal Neoplasms	0.2	1	0	CTD_human
1909	EDNRA	C0040433	Tooth Crowding	0.2	0	0	HPO
1909	EDNRA	C0239234	Low set ears	0.2	0	0	HPO
1909	EDNRA	C0240295	Mandibular hypoplasia	0.2	0	0	HPO
1909	EDNRA	C0240310	Hypoplasia of the maxilla	0.2	0	0	HPO
1909	EDNRA	C0242350	Erectile dysfunction	0.2	1	0	CTD_human
1909	EDNRA	C0242387	Mandibulofacial Dysostosis	0.2	0	0	HPO
1909	EDNRA	C0376634	Craniofacial Abnormalities	0.2	2	0	CTD_human
1909	EDNRA	C0395837	Stenosis of external auditory canal	0.2	0	0	HPO
1909	EDNRA	C0520679	Sleep Apnea, Obstructive	0.205363510615002	1	0	CTD_human
1909	EDNRA	C0576860	Narrowing of ear canal	0.2	0	0	HPO
1909	EDNRA	C0919267	ovarian neoplasm	0.203831819601666	1	0	CTD_human
1909	EDNRA	C1305420	Prominent ear	0.2	0	0	HPO
1909	EDNRA	C1306710	Facial asymmetry	0.2	0	0	HPO
1909	EDNRA	C1317785	Tooth size discrepancy	0.2	0	0	HPO
1909	EDNRA	C1832446	Sparse eyebrow	0.2	0	0	HPO
1909	EDNRA	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1909	EDNRA	C1843300	Sparse eyelashes	0.2	0	0	HPO
1909	EDNRA	C1845447	Cupped ears (finding)	0.2	0	0	HPO
1909	EDNRA	C1849367	Nasal bridge wide	0.2	0	0	HPO
1909	EDNRA	C1849538	Delayed eruption of primary teeth	0.2	0	0	HPO
1909	EDNRA	C1853246	Everted lower lip vermilion	0.2	0	0	HPO
1909	EDNRA	C1855285	Protruding ears	0.2	0	0	HPO
1909	EDNRA	C1857130	Hypoplastic mandible condyle	0.2	0	0	HPO
1909	EDNRA	C1866234	Protruding lower lip	0.2	0	0	HPO
1909	EDNRA	C2981150	Uranostaphyloschisis	0.2	0	0	HPO
1909	EDNRA	C3887485	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	0.2	0	0	CTD_human
1909	EDNRA	C4020892	Capuchin ears	0.2	0	0	HPO
1909	EDNRA	C4082243	Maxillary retrognathia	0.2	0	0	HPO
1909	EDNRA	C4225349	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	0.480274726784213	1	2	ORPHANET;UNIPROT
1909	EDNRA	C4280617	Tooth mass arch size discrepancy	0.2	0	0	HPO
1909	EDNRA	C4280618	Inadequate arch length for tooth size	0.2	0	0	HPO
1909	EDNRA	C4280640	Retrusion of upper jaw bones	0.2	0	0	HPO
1909	EDNRA	C4280641	Hypotrophic maxilla	0.2	0	0	HPO
1909	EDNRA	C4280642	Deficiency of upper jaw bones	0.2	0	0	HPO
1909	EDNRA	C4280643	Decreased projection of maxilla	0.2	0	0	HPO
191	AHCY	C0002514	Amino Acid Metabolism, Inborn Errors	0.2	1	0	CTD_human
191	AHCY	C0019202	Hepatolenticular Degeneration	0.200274726784213	1	0	CTD_human
191	AHCY	C0025362	Mental Retardation	0.2	0	0	HPO
191	AHCY	C0040427	Tooth Abnormalities	0.2	0	0	HPO
191	AHCY	C0231246	Failure to gain weight	0.2	0	0	HPO
191	AHCY	C0242184	Hypoxia	0.2	1	0	CTD_human
191	AHCY	C0262444	Dental abnormalities	0.2	0	0	HPO
191	AHCY	C0266617	Congenital anomaly of face	0.2	0	0	HPO
191	AHCY	C0268621	Hepatic methionine adenosyltransferase deficiency	0.2	0	0	HPO
191	AHCY	C0423903	Low intelligence	0.2	0	0	HPO
191	AHCY	C0424503	Dysmorphic facies	0.2	0	0	HPO
191	AHCY	C0557874	Global developmental delay	0.2	0	0	HPO
191	AHCY	C0878544	Cardiomyopathies	0.2	0	0	HPO
191	AHCY	C0917816	Mental deficiency	0.2	0	0	HPO
191	AHCY	C1385263	facial deformity	0.2	0	0	HPO
191	AHCY	C1843367	Poor school performance	0.2	0	0	HPO
191	AHCY	C1854301	Motor delay	0.2	0	0	HPO
191	AHCY	C1864897	Cognitive delay	0.2	0	0	HPO
191	AHCY	C2315100	Pediatric failure to thrive	0.2	0	0	HPO
191	AHCY	C3151058	Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase	0.4	2	5	ORPHANET;UNIPROT
191	AHCY	C3714756	Intellectual Disability	0.2	0	0	HPO
191	AHCY	C4020874	No development of motor milestones	0.2	0	0	HPO
191	AHCY	C4020875	Mental and motor retardation	0.2	0	0	HPO
191	AHCY	C4020876	Dull intelligence	0.2	0	0	HPO
191	AHCY	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
191	AHCY	C4048705	Hypermethioninemia	0.2	1	0	CTD_human
191	AHCY	C4072832	Distortion of face	0.2	0	0	HPO
191	AHCY	C4072833	Funny looking face	0.2	0	0	HPO
1910	EDNRB	C0000737	Abdominal Pain	0.2	0	0	HPO
1910	EDNRB	C0001916	Albinism	0.2	0	0	HPO
1910	EDNRB	C0007758	Cerebellar Ataxia	0.2	0	0	HPO
1910	EDNRB	C0009806	Constipation	0.200274726784213	0	0	HPO
1910	EDNRB	C0011053	Deafness	0.2	0	0	HPO
1910	EDNRB	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	0.200274726784213	1	0	CTD_human
1910	EDNRB	C0018772	Hearing Loss, Partial	0.2	0	0	HPO
1910	EDNRB	C0018784	Sensorineural Hearing Loss (disorder)	0.28	0	0	HPO
1910	EDNRB	C0019284	Diaphragmatic Hernia	0.2	1	0	CTD_human
1910	EDNRB	C0019569	Hirschsprung Disease	0.718560706641212	1	0	CTD_human;HPO;ORPHANET
1910	EDNRB	C0020542	Pulmonary Hypertension	0.2	1	0	CTD_human
1910	EDNRB	C0021843	Intestinal Obstruction	0.200274726784213	0	0	HPO
1910	EDNRB	C0023520	Leukodystrophy	0.2	0	0	HPO
1910	EDNRB	C0025160	Megacolon	0.2	0	0	HPO
1910	EDNRB	C0026827	Muscle hypotonia	0.2	0	0	HPO
1910	EDNRB	C0027498	Nausea and vomiting	0.2	0	0	HPO
1910	EDNRB	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1910	EDNRB	C0027720	Nephrosis	0.2	1	0	CTD_human
1910	EDNRB	C0028738	Nystagmus	0.2	0	0	HPO
1910	EDNRB	C0031117	Peripheral Neuropathy	0.2	0	0	HPO
1910	EDNRB	C0037771	Paraparesis, Spastic	0.2	0	0	HPO
1910	EDNRB	C0038525	Subarachnoid Hemorrhage	0.2	1	0	CTD_human
1910	EDNRB	C0151891	Retinal depigmentation	0.2	0	0	HPO
1910	EDNRB	C0152025	Polyneuropathy	0.2	0	0	HPO
1910	EDNRB	C0237326	Dyschezia	0.2	0	0	HPO
1910	EDNRB	C0263498	Premature canities	0.2	0	0	HPO
1910	EDNRB	C0333913	Achromasia	0.2	0	0	HPO
1910	EDNRB	C0339789	Congenital deafness	0.200274726784213	0	0	HPO
1910	EDNRB	C0344312	White forelock	0.2	0	0	HPO
1910	EDNRB	C0423318	Heterochromia iridis	0.2	0	0	HPO
1910	EDNRB	C0431447	Synophrys	0.2	0	0	HPO
1910	EDNRB	C0522216	Abnormal auditory evoked potential	0.2	0	0	HPO
1910	EDNRB	C0557874	Global developmental delay	0.2	0	0	HPO
1910	EDNRB	C0578626	blue iris (physical finding)	0.2	0	0	HPO
1910	EDNRB	C0730362	Disorder of macula of retina	0.2	0	0	HPO
1910	EDNRB	C1262477	Weight decreased	0.2	0	0	HPO
1910	EDNRB	C1384666	hearing impairment	0.2	0	0	HPO
1910	EDNRB	C1458155	Mammary Neoplasms	0.202732912464814	1	0	CTD_human
1910	EDNRB	C1834055	Thin hypoplastic alae nasi	0.2	0	0	HPO
1910	EDNRB	C1836729	Autonomic dysregulation	0.2	0	0	HPO
1910	EDNRB	C1836735	hypopigmented skin patch	0.2	0	0	HPO
1910	EDNRB	C1836736	White eyelashes	0.2	0	0	HPO
1910	EDNRB	C1836737	White eyebrows	0.2	0	0	HPO
1910	EDNRB	C1838099	ABCD syndrome	0.200274726784213	0	0	CTD_human
1910	EDNRB	C1838564	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	0.28	4	6	UNIPROT
1910	EDNRB	C1839764	Broad flat nasal bridge	0.2	0	0	HPO
1910	EDNRB	C1848395	Large for gestational age	0.2	0	0	HPO
1910	EDNRB	C1848519	WAARDENBURG SYNDROME, TYPE 4A	0.682747267842131	2	3	CTD_human;ORPHANET;UNIPROT
1910	EDNRB	C1849367	Nasal bridge wide	0.2	0	0	HPO
1910	EDNRB	C1854113	Prominent nasal bridge	0.2	0	0	HPO
1910	EDNRB	C1855331	Olfactory lobe absence	0.2	0	0	HPO
1910	EDNRB	C1864897	Cognitive delay	0.2	0	0	HPO
1910	EDNRB	C4020875	Mental and motor retardation	0.2	0	0	HPO
1910	EDNRB	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1910	EDNRB	C4025846	Abnormality of vision	0.2	0	0	HPO
1910	EDNRB	C4230640	Convex nasal bridge	0.2	0	0	HPO
1910	EDNRB	C4280578	Grey eyelashes	0.2	0	0	HPO
1910	EDNRB	C4280579	Grey eyebrow	0.2	0	0	HPO
1910	EDNRB	C4280580	Blonde eyebrow	0.2	0	0	HPO
1911	PHC1	C0008519	Ectopic Tissue	0.2	0	0	HPO
1911	PHC1	C0027658	Neoplasms, Germ Cell and Embryonal	0.2	1	0	CTD_human
1911	PHC1	C0036857	Severe mental retardation (I.Q. 20-34)	0.2	0	0	HPO
1911	PHC1	C0042580	Vesico-Ureteral Reflux	0.2	0	0	HPO
1911	PHC1	C0151889	Hyperreflexia	0.2	0	0	HPO
1911	PHC1	C0175754	Agenesis of corpus callosum	0.2	0	0	HPO
1911	PHC1	C0266294	Unilateral agenesis of kidney	0.2	0	0	HPO
1911	PHC1	C0266483	Pachygyria	0.2	0	0	HPO
1911	PHC1	C0349588	Short stature	0.2	0	0	HPO
1911	PHC1	C0423109	Upward slant of palpebral fissure	0.2	0	0	HPO
1911	PHC1	C0424688	Small head	0.2	0	0	HPO
1911	PHC1	C0557874	Global developmental delay	0.2	0	0	HPO
1911	PHC1	C1849172	Frontal lobe hypoplasia	0.2	0	0	HPO
1911	PHC1	C1855081	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	0.2	0	0	ORPHANET
1911	PHC1	C1857679	Sloping forehead	0.2	0	0	HPO
1911	PHC1	C1864897	Cognitive delay	0.2	0	0	HPO
1911	PHC1	C1865017	Thin upper lip vermilion	0.2	0	0	HPO
1911	PHC1	C3278923	Dilated ventricles (finding)	0.2	0	0	HPO
1911	PHC1	C3809431	MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	0.2	1	1	UNIPROT
1911	PHC1	C4020875	Mental and motor retardation	0.2	0	0	HPO
1911	PHC1	C4020899	Autosomal recessive predisposition	0.2	0	0	HPO
1911	PHC1	C4021741	Abnormal cortical bone morphology	0.2	0	0	HPO
1915	EEF1A1	C0024667	Animal Mammary Neoplasms	0.2	1	0	CTD_human
1915	EEF1A1	C0024668	Mammary Neoplasms, Experimental	0.2	1	0	CTD_human
1915	EEF1A1	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1917	EEF1A2	C0001807	Aggressive behavior	0.2	0	0	HPO
1917	EEF1A2	C0014306	Enophthalmos	0.2	0	0	HPO
1917	EEF1A2	C0014544	Epilepsy	0.200549453568426	0	0	HPO
1917	EEF1A2	C0025362	Mental Retardation	0.2	0	0	HPO
1917	EEF1A2	C0026827	Muscle hypotonia	0.2	0	0	HPO
1917	EEF1A2	C0036572	Seizures	0.2	0	0	HPO
1917	EEF1A2	C0036857	Severe mental retardation (I.Q. 20-34)	0.200274726784213	0	0	HPO
1917	EEF1A2	C0038356	Stomach Neoplasms	0.2	1	0	CTD_human
1917	EEF1A2	C0231686	Gait, Unsteady	0.2	0	0	HPO
1917	EEF1A2	C0239234	Low set ears	0.2	0	0	HPO
1917	EEF1A2	C0423110	Downward slant of palpebral fissure	0.2	0	0	HPO
1917	EEF1A2	C0423224	Sunken eyes	0.2	0	0	HPO
1917	EEF1A2	C0423903	Low intelligence	0.2	0	0	HPO
1917	EEF1A2	C0424323	Physical aggression	0.2	0	0	HPO
1917	EEF1A2	C0424688	Small head	0.2	0	0	HPO
1917	EEF1A2	C0543888	Epileptic encephalopathy	0.200274726784213	0	0	HPO
1917	EEF1A2	C0557874	Global developmental delay	0.2	0	0	HPO
1917	EEF1A2	C0678230	Congenital Epicanthus	0.2	0	0	HPO
1917	EEF1A2	C0684276	Hypsarrhythmia	0.2	0	0	HPO
1917	EEF1A2	C0917816	Mental deficiency	0.2	0	0	HPO
1917	EEF1A2	C1457883	Aggressive reaction	0.2	0	0	HPO
1917	EEF1A2	C1836542	Depressed nasal bridge	0.2	0	0	HPO
1917	EEF1A2	C1839767	Inverted V-shaped upper lip	0.2	0	0	HPO
1917	EEF1A2	C1843367	Poor school performance	0.2	0	0	HPO
1917	EEF1A2	C1847514	Postnatal microcephaly	0.2	0	0	HPO
1917	EEF1A2	C1848924	Infantile onset	0.2	0	0	HPO
1917	EEF1A2	C1850072	Tented upper lip	0.2	0	0	HPO
1917	EEF1A2	C1853246	Everted lower lip vermilion	0.2	0	0	HPO
1917	EEF1A2	C1853383	Tented mouth	0.2	0	0	HPO
1917	EEF1A2	C1864897	Cognitive delay	0.2	0	0	HPO
1917	EEF1A2	C1866195	Downturned corners of mouth	0.2	0	0	HPO
1917	EEF1A2	C1866234	Protruding lower lip	0.2	0	0	HPO
1917	EEF1A2	C2267233	Neonatal Hypotonia	0.2	0	0	HPO
1917	EEF1A2	C3550546	Depressed nasal root/bridge	0.2	0	0	HPO
1917	EEF1A2	C3714756	Intellectual Disability	0.2	0	0	HPO
1917	EEF1A2	C4020875	Mental and motor retardation	0.2	0	0	HPO
1917	EEF1A2	C4020876	Dull intelligence	0.2	0	0	HPO
1917	EEF1A2	C4225337	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	0.2	2	2	UNIPROT
1917	EEF1A2	C4225343	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	0.2	1	2	UNIPROT
1917	EEF1A2	C4280495	Concave bridge of nose	0.2	0	0	HPO
192286	HIGD2A	C0023903	Liver neoplasms	0.2	1	0	CTD_human
192286	HIGD2A	C0032927	Precancerous Conditions	0.2	1	0	CTD_human
192683	SCAMP5	C0004352	Autistic Disorder	0.2	1	0	CTD_human
1933	EEF1B2	C0027627	Neoplasm Metastasis	0.2	2	0	CTD_human
1933	EEF1B2	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1933	EEF1B2	C3714756	Intellectual Disability	0.2	1	0	CTD_human
1938	EEF2	C0001418	Adenocarcinoma	0.2	1	0	CTD_human
1938	EEF2	C0007134	Renal Cell Carcinoma	0.2	1	0	CTD_human
1938	EEF2	C0013362	Dysarthria	0.2	0	0	HPO
1938	EEF2	C0024121	Lung Neoplasms	0.2	1	0	CTD_human
1938	EEF2	C0027626	Neoplasm Invasiveness	0.2	1	0	CTD_human
1938	EEF2	C0027627	Neoplasm Metastasis	0.2	1	0	CTD_human
1938	EEF2	C0028738	Nystagmus	0.2	0	0	HPO
1938	EEF2	C0029408	Degenerative polyarthritis	0.2	1	0	CTD_human
1938	EEF2	C0262404	Cerebellar degeneration	0.2	0	0	HPO
1938	EEF2	C0427190	Ataxia, Truncal	0.2	0	0	HPO
1938	EEF2	C0520966	Abnormal coordination	0.2	0	0	HPO
1938	EEF2	C0740279	Atrophy of cerebellum	0.2	0	0	HPO
1938	EEF2	C0750937	Ataxia, Appendicular	0.2	0	0	HPO
1938	EEF2	C0751837	Gait Ataxia	0.2	0	0	HPO
1938	EEF2	C1458155	Mammary Neoplasms	0.202732912464814	1	0	CTD_human
1938	EEF2	C1836392	Dysmetric saccades	0.2	0	0	HPO
1938	EEF2	C1836395	SPINOCEREBELLAR ATAXIA 26	0.4	1	1	ORPHANET;UNIPROT
1938	EEF2	C1853562	Adult onset	0.2	0	0	HPO
1938	EEF2	C1854494	Slow progression	0.2	0	0	HPO
1938	EEF2	C1866753	Impaired horizontal smooth pursuit	0.2	0	0	HPO
1938	EEF2	C4020873	Infratentorial atrophy	0.2	0	0	HPO
1942	EFNA1	C1458155	Mammary Neoplasms	0.2	1	0	CTD_human
1946	EFNA5	C0035126	Reperfusion Injury	0.2	1	0	CTD_human
1947	EFNB1	C0008924	Cleft Lip	0.2	0	0	HPO
1947	EFNB1	C0008925	Cleft Palate	0.2	0	0	HPO
1947	EFNB1	C0010278	Craniosynostosis	0.40350593566014	1	0	CTD_human;HPO
1947	EFNB1	C0010417	Cryptorchidism	0.2	0	0	HPO
1947	EFNB1	C0015310	Exotropia	0.2	0	0	HPO
1947	EFNB1	C0018784	Sensorineural Hearing Loss (disorder)	0.2	0	0	HPO
1947	EFNB1	C0019322	Umbilical hernia	0.2	0	0	HPO
1947	EFNB1	C0020534	Orbital separation excessive	0.4	1	0	CTD_human;HPO
1947	EFNB1	C0021368	Inflammation	0.2	1	0	CTD_human
1947	EFNB1	C0025362	Mental Retardation	0.200274726784213	0	0	HPO
1947	EFNB1	C0026827	Muscle hypotonia	0.2	0	0	HPO
1947	EFNB1	C0028738	Nystagmus	0.2	0	0	HPO
19