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Fusion gene ID: 8750 |
FusionGeneSummary for CTDP1_TGFB1 |
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Fusion gene information | Fusion gene name: CTDP1_TGFB1 | Fusion gene ID: 8750 | Hgene | Tgene | Gene symbol | CTDP1 | TGFB1 | Gene ID | 9150 | 7040 |
Gene name | CTD phosphatase subunit 1 | transforming growth factor beta 1 | |
Synonyms | CCFDN|FCP1 | CED|DPD1|LAP|TGFB|TGFbeta | |
Cytomap | 18q23 | 19q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | RNA polymerase II subunit A C-terminal domain phosphataseCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1CTD of POLR2A, phosphatase of, subunit 1TFIIF-associating CTD phosphatase 1serine phosphatase FCP1atranscri | transforming growth factor beta-1TGF-beta-1latency-associated peptideprepro-transforming growth factor beta-1 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q9Y5B0 | P01137 | |
Ensembl transtripts involved in fusion gene | ENST00000299543, ENST00000075430, ENST00000587623, | ENST00000221930, | |
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 6 X 5 X 4=120 |
# samples | 3 | 6 | |
** MAII score | log2(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CTDP1 [Title/Abstract] AND TGFB1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CTDP1 | GO:0006470 | protein dephosphorylation | 9765293|22692537 |
Hgene | CTDP1 | GO:0043923 | positive regulation by host of viral transcription | 15723517 |
Tgene | TGFB1 | GO:0000060 | protein import into nucleus, translocation | 21390327 |
Tgene | TGFB1 | GO:0001837 | epithelial to mesenchymal transition | 25893292 |
Tgene | TGFB1 | GO:0001933 | negative regulation of protein phosphorylation | 8053900 |
Tgene | TGFB1 | GO:0001934 | positive regulation of protein phosphorylation | 18625725 |
Tgene | TGFB1 | GO:0002062 | chondrocyte differentiation | 15040835 |
Tgene | TGFB1 | GO:0002244 | hematopoietic progenitor cell differentiation | 15451575 |
Tgene | TGFB1 | GO:0006611 | protein export from nucleus | 9770491|17438144|18588859 |
Tgene | TGFB1 | GO:0006754 | ATP biosynthetic process | 10513816 |
Tgene | TGFB1 | GO:0006796 | phosphate-containing compound metabolic process | 10513816 |
Tgene | TGFB1 | GO:0006954 | inflammatory response | 21147091 |
Tgene | TGFB1 | GO:0007050 | cell cycle arrest | 14555988 |
Tgene | TGFB1 | GO:0007093 | mitotic cell cycle checkpoint | 15334054 |
Tgene | TGFB1 | GO:0007173 | epidermal growth factor receptor signaling pathway | 18625725 |
Tgene | TGFB1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|11157754 |
Tgene | TGFB1 | GO:0007182 | common-partner SMAD protein phosphorylation | 20573232 |
Tgene | TGFB1 | GO:0007183 | SMAD protein complex assembly | 17438144 |
Tgene | TGFB1 | GO:0008284 | positive regulation of cell proliferation | 10513816|14633705 |
Tgene | TGFB1 | GO:0008285 | negative regulation of cell proliferation | 15334054 |
Tgene | TGFB1 | GO:0010628 | positive regulation of gene expression | 18625725|18832382|19913496|25322725|26687115|27162619 |
Tgene | TGFB1 | GO:0010629 | negative regulation of gene expression | 19913496|20067797|22269326|25163461 |
Tgene | TGFB1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 17999987|18505915 |
Tgene | TGFB1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
Tgene | TGFB1 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 18625725|19736306 |
Tgene | TGFB1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9389648|19736306 |
Tgene | TGFB1 | GO:0010936 | negative regulation of macrophage cytokine production | 20875417 |
Tgene | TGFB1 | GO:0016477 | cell migration | 25893292 |
Tgene | TGFB1 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 15334054 |
Tgene | TGFB1 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
Tgene | TGFB1 | GO:0022408 | negative regulation of cell-cell adhesion | 18593713 |
Tgene | TGFB1 | GO:0030214 | hyaluronan catabolic process | 17324121 |
Tgene | TGFB1 | GO:0030308 | negative regulation of cell growth | 15334054 |
Tgene | TGFB1 | GO:0030335 | positive regulation of cell migration | 19736306 |
Tgene | TGFB1 | GO:0031293 | membrane protein intracellular domain proteolysis | 25310401 |
Tgene | TGFB1 | GO:0031334 | positive regulation of protein complex assembly | 19366691 |
Tgene | TGFB1 | GO:0031663 | lipopolysaccharide-mediated signaling pathway | 21147091 |
Tgene | TGFB1 | GO:0032270 | positive regulation of cellular protein metabolic process | 15219857 |
Tgene | TGFB1 | GO:0032355 | response to estradiol | 18039789 |
Tgene | TGFB1 | GO:0032570 | response to progesterone | 18039789 |
Tgene | TGFB1 | GO:0032740 | positive regulation of interleukin-17 production | 18453574 |
Tgene | TGFB1 | GO:0032801 | receptor catabolic process | 17878231 |
Tgene | TGFB1 | GO:0032930 | positive regulation of superoxide anion generation | 22073128 |
Tgene | TGFB1 | GO:0032967 | positive regulation of collagen biosynthetic process | 19734317|22269326|25310401 |
Tgene | TGFB1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18625725|19736306 |
Tgene | TGFB1 | GO:0035307 | positive regulation of protein dephosphorylation | 14555988 |
Tgene | TGFB1 | GO:0042307 | positive regulation of protein import into nucleus | 19366691 |
Tgene | TGFB1 | GO:0043117 | positive regulation of vascular permeability | 21168935 |
Tgene | TGFB1 | GO:0043406 | positive regulation of MAP kinase activity | 18625725 |
Tgene | TGFB1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
Tgene | TGFB1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
Tgene | TGFB1 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 18625725 |
Tgene | TGFB1 | GO:0045216 | cell-cell junction organization | 18505915 |
Tgene | TGFB1 | GO:0045599 | negative regulation of fat cell differentiation | 15040835 |
Tgene | TGFB1 | GO:0045662 | negative regulation of myoblast differentiation | 9770491 |
Tgene | TGFB1 | GO:0045786 | negative regulation of cell cycle | 11502704 |
Tgene | TGFB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15702480|18832382 |
Tgene | TGFB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9389648|14517293|15334054|16816361 |
Tgene | TGFB1 | GO:0045930 | negative regulation of mitotic cell cycle | 14555988 |
Tgene | TGFB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18832382 |
Tgene | TGFB1 | GO:0048298 | positive regulation of isotype switching to IgA isotypes | 14988498 |
Tgene | TGFB1 | GO:0048642 | negative regulation of skeletal muscle tissue development | 9770491 |
Tgene | TGFB1 | GO:0050680 | negative regulation of epithelial cell proliferation | 9950587 |
Tgene | TGFB1 | GO:0050714 | positive regulation of protein secretion | 18505915 |
Tgene | TGFB1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21168935 |
Tgene | TGFB1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
Tgene | TGFB1 | GO:0051897 | positive regulation of protein kinase B signaling | 18625725 |
Tgene | TGFB1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 11157754|17999987|18453574|25893292 |
Tgene | TGFB1 | GO:0060390 | regulation of SMAD protein signal transduction | 25893292 |
Tgene | TGFB1 | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648|19366691 |
Tgene | TGFB1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 25310401 |
Tgene | TGFB1 | GO:0070723 | response to cholesterol | 17878231 |
Tgene | TGFB1 | GO:0071407 | cellular response to organic cyclic compound | 21147091 |
Tgene | TGFB1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19736306|22269326 |
Tgene | TGFB1 | GO:0085029 | extracellular matrix assembly | 19734317 |
Tgene | TGFB1 | GO:0097191 | extrinsic apoptotic signaling pathway | 15334054 |
Tgene | TGFB1 | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 17324121 |
Tgene | TGFB1 | GO:1901666 | positive regulation of NAD+ ADP-ribosyltransferase activity | 22073128 |
Tgene | TGFB1 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 26311719|26493107 |
Tgene | TGFB1 | GO:1903077 | negative regulation of protein localization to plasma membrane | 21168935 |
Tgene | TGFB1 | GO:1903800 | positive regulation of production of miRNAs involved in gene silencing by miRNA | 18548003 |
Tgene | TGFB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 22073128 |
Tgene | TGFB1 | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 25163461 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF765131 | CTDP1 | chr18 | 77513810 | + | TGFB1 | chr19 | 41859399 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-5UTR | ENST00000299543 | ENST00000221930 | CTDP1 | chr18 | 77513810 | + | TGFB1 | chr19 | 41859399 | + |
3UTR-5UTR | ENST00000075430 | ENST00000221930 | CTDP1 | chr18 | 77513810 | + | TGFB1 | chr19 | 41859399 | + |
intron-5UTR | ENST00000587623 | ENST00000221930 | CTDP1 | chr18 | 77513810 | + | TGFB1 | chr19 | 41859399 | + |
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FusionProtFeatures for CTDP1_TGFB1 |
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Hgene | Tgene |
CTDP1 | TGFB1 |
Processively dephosphorylates 'Ser-2' and 'Ser-5' of theheptad repeats YSPTSPS in the C-terminal domain of the largest RNApolymerase II subunit. This promotes the activity of RNApolymerase II. Plays a role in the exit from mitosis bydephosphorylating crucial mitotic substrates (USP44, CDC20 andWEE1) that are required for M-phase-promoting factor (MPF)/CDK1inactivation. {ECO:0000269|PubMed:22692537}. | Multifunctional protein that controls proliferation,differentiation and other functions in many cell types. Many cellssynthesize TGFB1 and have specific receptors for it. It positivelyand negatively regulates many other growth factors. It plays animportant role in bone remodeling as it is a potent stimulator ofosteoblastic bone formation, causing chemotaxis, proliferation anddifferentiation in committed osteoblasts (By similarity).Stimulates sustained production of collagen through the activationof CREB3L1 by regulated intramembrane proteolysis (RIP)(PubMed:25310401). Can promote either T-helper 17 cells (Th17) orregulatory T-cells (Treg) lineage differentiation in aconcentration-dependent manner. At high concentrations, leads toFOXP3-mediated suppression of RORC and down-regulation of IL-17expression, favoring Treg cell development. At low concentrationsin concert with IL-6 and IL-21, leads to expression of the IL-17and IL-23 receptors, favoring differentiation to Th17 cells.Mediates SMAD2/3 activation by inducing its phosphorylation andsubsequent translocation to the nucleus (PubMed:25893292). Caninduce epithelial-to-mesenchymal transition (EMT) and cellmigration in various cell types (PubMed:25893292).{ECO:0000250|UniProtKB:P04202, ECO:0000269|PubMed:25310401,ECO:0000269|PubMed:25893292}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CTDP1_TGFB1 |
![]() (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 CTDP1_TGFB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CTDP1_TGFB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | TGFB1 | P01137 | DB00070 | Hyaluronidase | Transforming growth factor beta-1 | biotech | approved|investigational |
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RelatedDiseases for CTDP1_TGFB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TGFB1 | C0034069 | Pulmonary Fibrosis | 7 | CTD_human;HPO |
Tgene | TGFB1 | C0016059 | Fibrosis | 6 | CTD_human |
Tgene | TGFB1 | C0027626 | Neoplasm Invasiveness | 5 | CTD_human |
Tgene | TGFB1 | C0011989 | Camurati-Engelmann Syndrome | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | TGFB1 | C0023893 | Liver Cirrhosis, Experimental | 4 | CTD_human |
Tgene | TGFB1 | C0017668 | Focal glomerulosclerosis | 3 | CTD_human |
Tgene | TGFB1 | C0022658 | Kidney Diseases | 3 | CTD_human |
Tgene | TGFB1 | C0024121 | Lung Neoplasms | 3 | CTD_human |
Tgene | TGFB1 | C0027627 | Neoplasm Metastasis | 3 | CTD_human |
Tgene | TGFB1 | C0027726 | Nephrotic Syndrome | 3 | CTD_human |
Tgene | TGFB1 | C0004096 | Asthma | 2 | CTD_human |
Tgene | TGFB1 | C0005138 | Berylliosis | 2 | CTD_human |
Tgene | TGFB1 | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
Tgene | TGFB1 | C0011881 | Diabetic Nephropathy | 2 | CTD_human |
Tgene | TGFB1 | C0020517 | Hypersensitivity | 2 | CTD_human |
Tgene | TGFB1 | C0020538 | Hypertensive disease | 2 | CTD_human |
Tgene | TGFB1 | C0021368 | Inflammation | 2 | CTD_human |
Tgene | TGFB1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | TGFB1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | TGFB1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | TGFB1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Tgene | TGFB1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | TGFB1 | C0006663 | Calcinosis | 1 | CTD_human |
Tgene | TGFB1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | TGFB1 | C0007140 | Carcinosarcoma | 1 | CTD_human |
Tgene | TGFB1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | TGFB1 | C0008925 | Cleft Palate | 1 | CTD_human |
Tgene | TGFB1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | TGFB1 | C0011581 | Depressive disorder | 1 | PSYGENET |
Tgene | TGFB1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | TGFB1 | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
Tgene | TGFB1 | C0013238 | Dry Eye Syndromes | 1 | CTD_human |
Tgene | TGFB1 | C0013264 | Muscular Dystrophy, Duchenne | 1 | CTD_human |
Tgene | TGFB1 | C0013295 | Duodenal Ulcer | 1 | CTD_human |
Tgene | TGFB1 | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
Tgene | TGFB1 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
Tgene | TGFB1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
Tgene | TGFB1 | C0020507 | Hyperplasia | 1 | CTD_human |
Tgene | TGFB1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Tgene | TGFB1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | TGFB1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | TGFB1 | C0024115 | Lung diseases | 1 | CTD_human |
Tgene | TGFB1 | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
Tgene | TGFB1 | C0026848 | Myopathy | 1 | CTD_human |
Tgene | TGFB1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Tgene | TGFB1 | C0028797 | Occupational Diseases | 1 | CTD_human |
Tgene | TGFB1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Tgene | TGFB1 | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | TGFB1 | C0029458 | Osteoporosis, Postmenopausal | 1 | CTD_human |
Tgene | TGFB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Tgene | TGFB1 | C0030354 | Papilloma | 1 | CTD_human |
Tgene | TGFB1 | C0030848 | Peyronie Disease | 1 | CTD_human |
Tgene | TGFB1 | C0032226 | Pleural Diseases | 1 | CTD_human |
Tgene | TGFB1 | C0032285 | Pneumonia | 1 | CTD_human |
Tgene | TGFB1 | C0033687 | Proteinuria | 1 | CTD_human |
Tgene | TGFB1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | TGFB1 | C0034067 | Pulmonary Emphysema | 1 | CTD_human |
Tgene | TGFB1 | C0036202 | Sarcoidosis | 1 | CTD_human |
Tgene | TGFB1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | TGFB1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Tgene | TGFB1 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
Tgene | TGFB1 | C0040028 | Thrombocythemia, Essential | 1 | CTD_human |
Tgene | TGFB1 | C0041948 | Uremia | 1 | CTD_human |
Tgene | TGFB1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Tgene | TGFB1 | C0042109 | Urticaria | 1 | CTD_human |
Tgene | TGFB1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
Tgene | TGFB1 | C0158266 | Intervertebral Disc Degeneration | 1 | CTD_human |
Tgene | TGFB1 | C0241910 | Hepatitis, Autoimmune | 1 | CTD_human |
Tgene | TGFB1 | C0242488 | Acute Lung Injury | 1 | CTD_human |
Tgene | TGFB1 | C0243026 | Sepsis | 1 | CTD_human |
Tgene | TGFB1 | C0264423 | Asthma, Occupational | 1 | CTD_human |
Tgene | TGFB1 | C0265287 | Acromicric Dysplasia | 1 | CTD_human |
Tgene | TGFB1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Tgene | TGFB1 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Tgene | TGFB1 | C0455503 | H/O: depression | 1 | PSYGENET |
Tgene | TGFB1 | C0521607 | Peritoneal Fibrosis | 1 | CTD_human |
Tgene | TGFB1 | C0525045 | Mood Disorders | 1 | PSYGENET |
Tgene | TGFB1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
Tgene | TGFB1 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
Tgene | TGFB1 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
Tgene | TGFB1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | TGFB1 | C2609414 | Acute kidney injury | 1 | CTD_human |