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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 8263

FusionGeneSummary for CPNE1_GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: CPNE1_GNAS
Fusion gene ID: 8263
HgeneTgene
Gene symbol

CPNE1

GNAS

Gene ID

8904

2778

Gene namecopine 1GNAS complex locus
SynonymsCOPN1|CPN1AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

20q11.22

20q13.32

Type of geneprotein-codingprotein-coding
Descriptioncopine-1chromobindin 17copine Iprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha
Modification date2018052320180523
UniProtAcc

Q99829

Q5JWF2

Ensembl transtripts involved in fusion geneENST00000352393, ENST00000317677, 
ENST00000397445, ENST00000317619, 
ENST00000397443, ENST00000397446, 
ENST00000397442, ENST00000475146, 
ENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
Fusion gene scores* DoF score9 X 7 X 6=37833 X 25 X 8=6600
# samples 935
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(35/6600*10)=-4.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPNE1 [Title/Abstract] AND GNAS [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCPNE1

GO:0043392

negative regulation of DNA binding

18212740

HgeneCPNE1

GO:0045666

positive regulation of neuron differentiation

23263657

HgeneCPNE1

GO:0051897

positive regulation of protein kinase B signaling

23263657

HgeneCPNE1

GO:1990138

neuron projection extension

23263657


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUADTCGA-55-8206-01ACPNE1chr20

34252682

-GNASchr20

57478586

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3UTRENST00000352393ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000352393ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000352393ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000352393ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000352393ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000317677ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000317677ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000317677ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000317677ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000317677ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397445ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397445ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397445ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397445ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397445ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000317619ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000317619ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000317619ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000317619ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000317619ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397443ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397443ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397443ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-3UTRENST00000397443ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
5UTR-intronENST00000397443ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397446ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397446ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397446ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397446ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397446ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397442ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397442ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397442ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000397442ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000397442ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000475146ENST00000313949CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371098CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000475146ENST00000371075CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000475146ENST00000371100CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371099CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371102CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-3UTRENST00000475146ENST00000464624CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000306120CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371095CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371085CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000354359CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000265620CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000306090CPNE1chr20

34252682

-GNASchr20

57478586

+
intron-intronENST00000475146ENST00000371081CPNE1chr20

34252682

-GNASchr20

57478586

+

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FusionProtFeatures for CPNE1_GNAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPNE1

Q99829

GNAS

Q5JWF2

Calcium-dependent phospholipid-binding protein thatplays a role in calcium-mediated intracellular processes(PubMed:14674885). Involved in the TNF-alpha receptor signalingpathway in a calcium-dependent manner (PubMed:14674885). Exhibitscalcium-dependent phospholipid binding properties (PubMed:9430674,PubMed:19539605). Plays a role in neuronal progenitor celldifferentiation; induces neurite outgrowth via a AKT-dependentsignaling cascade and calcium-independent manner (PubMed:23263657,PubMed:25450385). May recruit target proteins to the cell membranein a calcium-dependent manner (PubMed:12522145). May function inmembrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducingendoprotease processing of the transcription factor NF-kappa-Bp65/RELA subunit (PubMed:18212740). Also induces endoproteaseprocessing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL(PubMed:18212740). {ECO:0000269|PubMed:12522145,ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740,ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657,ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}. Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CPNE1_GNAS


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CPNE1_GNAS


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CPNE1UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25GNASFSCN1, PAICS, RUVBL1, SHMT2, TTC1, ADCY6, CRHR1, RGS2, SNX13, VIPR1, GNAS, MDM2, CALM1, GNG2, PCK1, ADRB2, AVPR2, TBXA2R, GNB1, GNAQ, GNA11, SLC25A12, LAMTOR1, NUCB1, NUCB2, HLA-A, OPTN, PTGIR, FUS, AXIN1, PANX1, CCDC8, EGFR, JAK3, GNAL, GNG4, TRO, MAGED2, GNB2, GNB4, C1QBP, METAP2, CPT2, YBEY, GNG10, OCIAD1, GNA12, ARMCX3, GNG5, EIF4H, EML2, GIPC1, DIS3, PFAS, NTRK1, RIC8B, CHEK2, HERC2, XPO1, CAT, DBN1, FLNA, MYH9, DNAJC7, SYNPO, THOC2, ELMSAN1, ADCY2, CDC5L, CD47, GLP1R, NAP1L1, MTNR1B, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CPNE1_GNAS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCPNE1Q99829DB00277TheophyllineCopine-1 {ECO:0000305}small moleculeapproved

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RelatedDiseases for CPNE1_GNAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGNASC3494506Pseudohypoparathyroidism, Type Ia13CTD_human;ORPHANET;UNIPROT
TgeneGNASC0242292McCune-Albright Syndrome5ORPHANET;UNIPROT
TgeneGNASC2931404Albright's hereditary osteodystrophy4CTD_human
TgeneGNASC0016065Polyostotic fibrous dysplasia3CTD_human;HPO;ORPHANET
TgeneGNASC0033806Pseudohypoparathyroidism3CTD_human;HPO
TgeneGNASC1857451Acth-Independent Macronodular Adrenal Hyperplasia3ORPHANET;UNIPROT
TgeneGNASC0014130Endocrine System Diseases2CTD_human
TgeneGNASC0034013Precocious Puberty2CTD_human;HPO
TgeneGNASC0221263Cafe-au-Lait Spots2CTD_human
TgeneGNASC0001206Acromegaly1CTD_human;HPO
TgeneGNASC0001624Adrenal Gland Neoplasms1CTD_human
TgeneGNASC0011573Endogenous depression1PSYGENET
TgeneGNASC0019087Hemorrhagic Disorders1CTD_human
TgeneGNASC0020538Hypertensive disease1CTD_human;HPO
TgeneGNASC0021655Insulin Resistance1CTD_human
TgeneGNASC0023897Liver Diseases, Parasitic1CTD_human
TgeneGNASC0027819Neuroblastoma1CTD_human
TgeneGNASC0028754Obesity1CTD_human;HPO
TgeneGNASC0029396Heterotopic Ossification1CTD_human;HPO
TgeneGNASC0032460Polycystic Ovary Syndrome1CTD_human
TgeneGNASC0033835Pseudopseudohypoparathyroidism1CTD_human;ORPHANET
TgeneGNASC0035204Respiration Disorders1CTD_human
TgeneGNASC0036341Schizophrenia1PSYGENET
TgeneGNASC0038587Substance Withdrawal Syndrome1CTD_human
TgeneGNASC0039231Tachycardia1CTD_human
TgeneGNASC0206698Cholangiocarcinoma1CTD_human
TgeneGNASC0221357Brachydactyly1CTD_human;HPO
TgeneGNASC0242184Hypoxia1CTD_human
TgeneGNASC0242216Biliary calculi1CTD_human
TgeneGNASC0334041Osteoma cutis1CTD_human;ORPHANET;UNIPROT
TgeneGNASC0346302Growth Hormone-Secreting Pituitary Adenoma1CTD_human
TgeneGNASC2932715Pseudohypoparathyroidism Type 1B1CTD_human;ORPHANET
TgeneGNASC2932716Pseudohypoparathyroidism Type 1C1ORPHANET;UNIPROT
TgeneGNASC3714756Intellectual Disability1CTD_human;HPO