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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:COL3A1-COL3A1 (FusionGDB2 ID:HG1281TG1281) |
Fusion Gene Summary for COL3A1-COL3A1 |
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Fusion gene information | Fusion gene name: COL3A1-COL3A1 | Fusion gene ID: hg1281tg1281 | Hgene | Tgene | Gene symbol | COL3A1 | COL3A1 | Gene ID | 1281 | 1281 |
Gene name | collagen type III alpha 1 chain | collagen type III alpha 1 chain | |
Synonyms | EDS4A|EDSVASC|PMGEDSV | EDS4A|EDSVASC|PMGEDSV | |
Cytomap | ('COL3A1')('COL3A1') 2q32.2 | 2q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P02461 | P02461 | |
Ensembl transtripts involved in fusion gene | ENST00000304636, ENST00000317840, | ENST00000304636, ENST00000317840, | |
Fusion gene scores | * DoF score | 46 X 40 X 15=27600 | 34 X 39 X 8=10608 |
# samples | 56 | 43 | |
** MAII score | log2(56/27600*10)=-5.62309762960793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(43/10608*10)=-4.62467221052313 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL3A1 [Title/Abstract] AND COL3A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COL3A1(189867755)-COL3A1(189864041), # samples:3 COL3A1(189864041)-COL3A1(189867755), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | COL3A1-COL3A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-COL3A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-COL3A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-COL3A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-COL3A1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. COL3A1-COL3A1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. |
* 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 | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Hgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Hgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Hgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Hgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Hgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
Tgene | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Tgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Tgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Tgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Tgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Tgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for COL3A1-COL3A1 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for COL3A1-COL3A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for COL3A1-COL3A1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:189867755/chr2:189864041) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
COL3A1 | COL3A1 |
FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12. | FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12. |
![]() * 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 |
Tgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | 0 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 | |
Tgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | 0 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC | |
Tgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | 0 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 | |
Tgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | 0 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC | |
Tgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | 0 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 | |
Tgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | 0 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC | |
Tgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | 0 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) | |
Tgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | 0 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) | |
Tgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | 0 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region | |
Tgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | 0 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) | |
Tgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | 0 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) | |
Tgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | 0 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region | |
Tgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | 0 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) | |
Tgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | 0 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) | |
Tgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | 0 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region |
- 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 |
Hgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | - | 1 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 |
Hgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | - | 1 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC |
Hgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | + | 1 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 |
Hgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | + | 1 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC |
Hgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | - | 1 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 |
Hgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | - | 1 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC |
Hgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | - | 1 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) |
Hgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | - | 1 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) |
Hgene | COL3A1 | chr2:189864041 | chr2:189867755 | ENST00000304636 | - | 1 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region |
Hgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | + | 1 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) |
Hgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | + | 1 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) |
Hgene | COL3A1 | chr2:189867755 | chr2:189864041 | ENST00000304636 | + | 1 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region |
Hgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | - | 1 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) |
Hgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | - | 1 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) |
Hgene | COL3A1 | chr2:189870084 | chr2:189870134 | ENST00000304636 | - | 1 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region |
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Fusion Gene Sequence for COL3A1-COL3A1 |
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Fusion Gene PPI Analysis for COL3A1-COL3A1 |
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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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Related Drugs for COL3A1-COL3A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
Tgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
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Related Diseases for COL3A1-COL3A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 43 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | COL3A1 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 10 | CLINGEN;GENOMICS_ENGLAND |
Hgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
Hgene | COL3A1 | C0239946 | Fibrosis, Liver | 5 | CTD_human |
Hgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | COL3A1 | C0162871 | Aortic Aneurysm, Abdominal | 2 | ORPHANET |
Hgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET |
Hgene | COL3A1 | C2697932 | Loeys-Dietz Syndrome | 2 | GENOMICS_ENGLAND |
Hgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL3A1 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
Hgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
Hgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Hgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Hgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Hgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | COL3A1 | C0027719 | Nephrosclerosis | 1 | CTD_human |
Hgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | COL3A1 | C0038454 | Cerebrovascular accident | 1 | GENOMICS_ENGLAND |
Hgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Hgene | COL3A1 | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Hgene | COL3A1 | C0238590 | Acrogeria | 1 | ORPHANET |
Hgene | COL3A1 | C0338586 | Vertebral Artery Dissection | 1 | GENOMICS_ENGLAND |
Hgene | COL3A1 | C0406584 | Acrogeria, gottron type | 1 | ORPHANET |
Hgene | COL3A1 | C0553692 | Brain hemorrhage | 1 | GENOMICS_ENGLAND |
Hgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | COL3A1 | C0948008 | Ischemic stroke | 1 | GENOMICS_ENGLAND |
Hgene | COL3A1 | C1257963 | Endogenous Hyperinsulinism | 1 | CTD_human |
Hgene | COL3A1 | C1257964 | Exogenous Hyperinsulinism | 1 | CTD_human |
Hgene | COL3A1 | C1257965 | Compensatory Hyperinsulinemia | 1 | CTD_human |
Hgene | COL3A1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | COL3A1 | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | COL3A1 | C1855520 | Hyperglycemia, Postprandial | 1 | CTD_human |
Hgene | COL3A1 | C1862932 | ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) | 1 | ORPHANET |
Hgene | COL3A1 | C2711227 | Steatohepatitis | 1 | CTD_human |
Hgene | COL3A1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | COL3A1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | COL3A1 | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Tgene | C0268338 | Ehlers-Danlos Syndrome, Type IV | 43 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 10 | CLINGEN;GENOMICS_ENGLAND | |
Tgene | C0023890 | Liver Cirrhosis | 5 | CTD_human | |
Tgene | C0239946 | Fibrosis, Liver | 5 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human | |
Tgene | C0162871 | Aortic Aneurysm, Abdominal | 2 | ORPHANET | |
Tgene | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET | |
Tgene | C2697932 | Loeys-Dietz Syndrome | 2 | GENOMICS_ENGLAND | |
Tgene | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human | |
Tgene | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human | |
Tgene | C0015695 | Fatty Liver | 1 | CTD_human | |
Tgene | C0016059 | Fibrosis | 1 | CTD_human | |
Tgene | C0019193 | Hepatitis, Toxic | 1 | CTD_human | |
Tgene | C0020443 | Hypercholesterolemia | 1 | CTD_human | |
Tgene | C0020456 | Hyperglycemia | 1 | CTD_human | |
Tgene | C0020459 | Hyperinsulinism | 1 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 1 | CTD_human | |
Tgene | C0022548 | Keloid | 1 | CTD_human | |
Tgene | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human | |
Tgene | C0023895 | Liver diseases | 1 | CTD_human | |
Tgene | C0027719 | Nephrosclerosis | 1 | CTD_human | |
Tgene | C0034069 | Pulmonary Fibrosis | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | CTD_human | |
Tgene | C0038454 | Cerebrovascular accident | 1 | GENOMICS_ENGLAND | |
Tgene | C0041956 | Ureteral obstruction | 1 | CTD_human | |
Tgene | C0086565 | Liver Dysfunction | 1 | CTD_human | |
Tgene | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human | |
Tgene | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human | |
Tgene | C0238590 | Acrogeria | 1 | ORPHANET | |
Tgene | C0338586 | Vertebral Artery Dissection | 1 | GENOMICS_ENGLAND | |
Tgene | C0406584 | Acrogeria, gottron type | 1 | ORPHANET | |
Tgene | C0553692 | Brain hemorrhage | 1 | GENOMICS_ENGLAND | |
Tgene | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human | |
Tgene | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human | |
Tgene | C0948008 | Ischemic stroke | 1 | GENOMICS_ENGLAND | |
Tgene | C1257963 | Endogenous Hyperinsulinism | 1 | CTD_human | |
Tgene | C1257964 | Exogenous Hyperinsulinism | 1 | CTD_human | |
Tgene | C1257965 | Compensatory Hyperinsulinemia | 1 | CTD_human | |
Tgene | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human | |
Tgene | C1623038 | Cirrhosis | 1 | CTD_human | |
Tgene | C1855520 | Hyperglycemia, Postprandial | 1 | CTD_human | |
Tgene | C1862932 | ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) | 1 | ORPHANET | |
Tgene | C2711227 | Steatohepatitis | 1 | CTD_human | |
Tgene | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human | |
Tgene | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human | |
Tgene | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human | |
Tgene | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |