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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CYP1B1-CYP1B1 (FusionGDB2 ID:HG1545TG1545)

Fusion Gene Summary for CYP1B1-CYP1B1

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP1B1-CYP1B1
Fusion gene ID: hg1545tg1545
HgeneTgene
Gene symbol

CYP1B1

CYP1B1

Gene ID

1545

1545

Gene namecytochrome P450 family 1 subfamily B member 1cytochrome P450 family 1 subfamily B member 1
SynonymsASGD6|CP1B|CYPIB1|GLC3A|P4501B1ASGD6|CP1B|CYPIB1|GLC3A|P4501B1
Cytomap('CYP1B1')('CYP1B1')

2p22.2

2p22.2

Type of geneprotein-codingprotein-coding
Descriptioncytochrome P450 1B1aryl hydrocarbon hydroxylasecytochrome P450, family 1, subfamily B, polypeptide 1cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)dioxin-inducible cytochrome p450flavoprotein-linked monocytochrome P450 1B1aryl hydrocarbon hydroxylasecytochrome P450, family 1, subfamily B, polypeptide 1cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)dioxin-inducible cytochrome p450flavoprotein-linked mono
Modification date2020032220200322
UniProtAcc

Q16678

Q16678

Ensembl transtripts involved in fusion geneENST00000260630, ENST00000407341, 
ENST00000494864, 		ENST00000260630, 
ENST00000407341, ENST00000494864, 
Fusion gene scores* DoF score2 X 3 X 1=63 X 4 X 2=24
# samples 34
** MAII scorelog2(3/6*10)=2.32192809488736log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CYP1B1 [Title/Abstract] AND CYP1B1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP1B1(38295189)-CYP1B1(38295677), # samples:1
CYP1B1(38297220)-CYP1B1(38297661), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCYP1B1

GO:0006805

xenobiotic metabolic process

22888116

HgeneCYP1B1

GO:0008202

steroid metabolic process

22888116

HgeneCYP1B1

GO:0008210

estrogen metabolic process

11555828|12865317|23821647

HgeneCYP1B1

GO:0019369

arachidonic acid metabolic process

15258110

HgeneCYP1B1

GO:0042572

retinol metabolic process

10681376|15258110

HgeneCYP1B1

GO:0042574

retinal metabolic process

15258110

HgeneCYP1B1

GO:0071407

cellular response to organic cyclic compound

23275542

TgeneCYP1B1

GO:0006805

xenobiotic metabolic process

22888116

TgeneCYP1B1

GO:0008202

steroid metabolic process

22888116

TgeneCYP1B1

GO:0008210

estrogen metabolic process

11555828|12865317|23821647

TgeneCYP1B1

GO:0019369

arachidonic acid metabolic process

15258110

TgeneCYP1B1

GO:0042572

retinol metabolic process

10681376|15258110

TgeneCYP1B1

GO:0042574

retinal metabolic process

15258110

TgeneCYP1B1

GO:0071407

cellular response to organic cyclic compound

23275542



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW958883CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
ChiTaRS5.0N/ABU689794CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-


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Fusion Gene ORF analysis for CYP1B1-CYP1B1

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
intron-3UTRENST00000260630ENST00000260630CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-3UTRENST00000260630ENST00000260630CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-3UTRENST00000260630ENST00000407341CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-3UTRENST00000407341ENST00000260630CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-3UTRENST00000407341ENST00000260630CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-3UTRENST00000407341ENST00000407341CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-3UTRENST00000494864ENST00000260630CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-3UTRENST00000494864ENST00000260630CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-3UTRENST00000494864ENST00000407341CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-5UTRENST00000260630ENST00000494864CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-5UTRENST00000407341ENST00000494864CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-5UTRENST00000494864ENST00000494864CYP1B1chr2

38297220

+CYP1B1chr2

38297661

-
intron-intronENST00000260630ENST00000407341CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-intronENST00000260630ENST00000494864CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-intronENST00000407341ENST00000407341CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-intronENST00000407341ENST00000494864CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-intronENST00000494864ENST00000407341CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-
intron-intronENST00000494864ENST00000494864CYP1B1chr2

38295189

-CYP1B1chr2

38295677

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CYP1B1-CYP1B1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CYP1B1-CYP1B1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:38295189/:38295677)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYP1B1

Q16678

CYP1B1

Q16678

FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity). {ECO:0000250|UniProtKB:Q64429, ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11555828, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:15258110, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:21068195}.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:20972997, PubMed:11555828, PubMed:12865317, PubMed:10681376, PubMed:15258110). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity). {ECO:0000250|UniProtKB:Q64429, ECO:0000269|PubMed:10426814, ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11555828, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:15258110, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:21068195}.

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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Fusion Gene Sequence for CYP1B1-CYP1B1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CYP1B1-CYP1B1


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


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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Related Drugs for CYP1B1-CYP1B1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCYP1B1Q16678DB07776FlavoneSmall moleculeApproved|Experimental
HgeneCYP1B1Q16678DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational
TgeneCYP1B1Q16678DB07776FlavoneSmall moleculeApproved|Experimental
TgeneCYP1B1Q16678DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CYP1B1-CYP1B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP1B1C1856439GLAUCOMA 3, PRIMARY CONGENITAL, A22CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCYP1B1C0344559Irido-corneo-trabecular dysgenesis (disorder)3ORPHANET
HgeneCYP1B1C0006142Malignant neoplasm of breast2CTD_human
HgeneCYP1B1C0678222Breast Carcinoma2CTD_human
HgeneCYP1B1C1257931Mammary Neoplasms, Human2CTD_human
HgeneCYP1B1C1458155Mammary Neoplasms2CTD_human
HgeneCYP1B1C1533041Primary congenital glaucoma2GENOMICS_ENGLAND
HgeneCYP1B1C2981140Glaucoma of childhood2ORPHANET
HgeneCYP1B1C4310809ANTERIOR SEGMENT DYSGENESIS 52GENOMICS_ENGLAND
HgeneCYP1B1C4704874Mammary Carcinoma, Human2CTD_human
HgeneCYP1B1C0001430Adenoma1CTD_human
HgeneCYP1B1C0007137Squamous cell carcinoma1CTD_human
HgeneCYP1B1C0009402Colorectal Carcinoma1CTD_human
HgeneCYP1B1C0009404Colorectal Neoplasms1CTD_human
HgeneCYP1B1C0011616Contact Dermatitis1CTD_human
HgeneCYP1B1C0015695Fatty Liver1CTD_human
HgeneCYP1B1C0018800Cardiomegaly1CTD_human
HgeneCYP1B1C0019209Hepatomegaly1CTD_human
HgeneCYP1B1C0020302Hydrophthalmos1ORPHANET
HgeneCYP1B1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneCYP1B1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneCYP1B1C0024121Lung Neoplasms1CTD_human
HgeneCYP1B1C0025202melanoma1CTD_human
HgeneCYP1B1C0026640Mouth Neoplasms1CTD_human
HgeneCYP1B1C0028754Obesity1CTD_human
HgeneCYP1B1C0033578Prostatic Neoplasms1CTD_human
HgeneCYP1B1C0086132Depressive Symptoms1PSYGENET
HgeneCYP1B1C0153381Malignant neoplasm of mouth1CTD_human
HgeneCYP1B1C0162351Contact hypersensitivity1CTD_human
HgeneCYP1B1C0205646Adenoma, Basal Cell1CTD_human
HgeneCYP1B1C0205647Follicular adenoma1CTD_human
HgeneCYP1B1C0205648Adenoma, Microcystic1CTD_human
HgeneCYP1B1C0205649Adenoma, Monomorphic1CTD_human
HgeneCYP1B1C0205650Papillary adenoma1CTD_human
HgeneCYP1B1C0205651Adenoma, Trabecular1CTD_human
HgeneCYP1B1C0242379Malignant neoplasm of lung1CTD_human
HgeneCYP1B1C0271650Impaired glucose tolerance1CTD_human
HgeneCYP1B1C0376358Malignant neoplasm of prostate1CTD_human
HgeneCYP1B1C0919267ovarian neoplasm1CTD_human
HgeneCYP1B1C1140680Malignant neoplasm of ovary1CTD_human
HgeneCYP1B1C1383860Cardiac Hypertrophy1CTD_human
HgeneCYP1B1C1842028GLAUCOMA 1, OPEN ANGLE, A1UNIPROT
HgeneCYP1B1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneCYP1B1C2711227Steatohepatitis1CTD_human
TgeneC1856439GLAUCOMA 3, PRIMARY CONGENITAL, A22CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0344559Irido-corneo-trabecular dysgenesis (disorder)3ORPHANET
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC1533041Primary congenital glaucoma2GENOMICS_ENGLAND
TgeneC2981140Glaucoma of childhood2ORPHANET
TgeneC4310809ANTERIOR SEGMENT DYSGENESIS 52GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0001430Adenoma1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0020302Hydrophthalmos1ORPHANET
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0086132Depressive Symptoms1PSYGENET
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0205646Adenoma, Basal Cell1CTD_human
TgeneC0205647Follicular adenoma1CTD_human
TgeneC0205648Adenoma, Microcystic1CTD_human
TgeneC0205649Adenoma, Monomorphic1CTD_human
TgeneC0205650Papillary adenoma1CTD_human
TgeneC0205651Adenoma, Trabecular1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0271650Impaired glucose tolerance1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1842028GLAUCOMA 1, OPEN ANGLE, A1UNIPROT
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC2711227Steatohepatitis1CTD_human