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Center for Computational Systems Medicine
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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:ORMDL1-B2M (FusionGDB2 ID:HG94101TG567)

Fusion Gene Summary for ORMDL1-B2M

check button Fusion gene summary
Fusion gene informationFusion gene name: ORMDL1-B2M
Fusion gene ID: hg94101tg567
HgeneTgene
Gene symbol

ORMDL1

B2M

Gene ID

94101

567

Gene nameORMDL sphingolipid biosynthesis regulator 1beta-2-microglobulin
Synonyms-IMD43
Cytomap('ORMDL1')('B2M')

2q32.2

15q21.1

Type of geneprotein-codingprotein-coding
DescriptionORM1-like protein 1adoplin-1beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000325795, ENST00000392349, 
ENST00000392350, ENST00000409519, 
ENST00000496543, 
Fusion gene scores* DoF score6 X 5 X 5=15064 X 31 X 17=33728
# samples 771
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(71/33728*10)=-5.56998393724517
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ORMDL1 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointORMDL1(190640290)-B2M(45008526), # samples:1
Anticipated loss of major functional domain due to fusion event.ORMDL1-B2M 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.
ORMDL1-B2M 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.
ORMDL1-B2M 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneB2M

GO:0002726

positive regulation of T cell cytokine production

24643698

TgeneB2M

GO:0007611

learning or memory

26147761

TgeneB2M

GO:0050680

negative regulation of epithelial cell proliferation

28213472

TgeneB2M

GO:0050768

negative regulation of neurogenesis

26147761

TgeneB2M

GO:0090647

modulation of age-related behavioral decline

26147761

TgeneB2M

GO:1900121

negative regulation of receptor binding

9465039

TgeneB2M

GO:1990000

amyloid fibril formation

28468825

TgeneB2M

GO:2000774

positive regulation of cellular senescence

28213472

TgeneB2M

GO:2000978

negative regulation of forebrain neuron differentiation

26147761


check buttonFusion gene breakpoints across ORMDL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across B2M (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4STADTCGA-BR-A4J8ORMDL1chr2

190640290

-B2Mchr15

45008526

+


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Fusion Gene ORF analysis for ORMDL1-B2M

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
5CDS-3UTRENST00000325795ENST00000544417ORMDL1chr2

190640290

-B2Mchr15

45008526

+
5CDS-3UTRENST00000392349ENST00000544417ORMDL1chr2

190640290

-B2Mchr15

45008526

+
5CDS-3UTRENST00000392350ENST00000544417ORMDL1chr2

190640290

-B2Mchr15

45008526

+
5CDS-intronENST00000325795ENST00000559220ORMDL1chr2

190640290

-B2Mchr15

45008526

+
5CDS-intronENST00000392349ENST00000559220ORMDL1chr2

190640290

-B2Mchr15

45008526

+
5CDS-intronENST00000392350ENST00000559220ORMDL1chr2

190640290

-B2Mchr15

45008526

+
Frame-shiftENST00000325795ENST00000558401ORMDL1chr2

190640290

-B2Mchr15

45008526

+
Frame-shiftENST00000325795ENST00000559916ORMDL1chr2

190640290

-B2Mchr15

45008526

+
Frame-shiftENST00000392349ENST00000558401ORMDL1chr2

190640290

-B2Mchr15

45008526

+
Frame-shiftENST00000392350ENST00000559916ORMDL1chr2

190640290

-B2Mchr15

45008526

+
In-frameENST00000392349ENST00000559916ORMDL1chr2

190640290

-B2Mchr15

45008526

+
In-frameENST00000392350ENST00000558401ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3CDSENST00000409519ENST00000558401ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3CDSENST00000409519ENST00000559916ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3CDSENST00000496543ENST00000558401ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3CDSENST00000496543ENST00000559916ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3UTRENST00000409519ENST00000544417ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-3UTRENST00000496543ENST00000544417ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-intronENST00000409519ENST00000559220ORMDL1chr2

190640290

-B2Mchr15

45008526

+
intron-intronENST00000496543ENST00000559220ORMDL1chr2

190640290

-B2Mchr15

45008526

+

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)
ENST00000392350ORMDL1chr2190640290-ENST00000558401B2Mchr1545008526+172842955462135
ENST00000392349ORMDL1chr2190640290-ENST00000559916B2Mchr1545008526+1247546205585126

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
ENST00000392350ENST00000558401ORMDL1chr2190640290-B2Mchr1545008526+0.0293681170.97063184
ENST00000392349ENST00000559916ORMDL1chr2190640290-B2Mchr1545008526+0.0343601440.9656398

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Fusion Genomic Features for ORMDL1-B2M


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)
ORMDL1chr2190640290-B2Mchr1545008526+0.0002103820.99978966
ORMDL1chr2190640290-B2Mchr1545008526+0.0002103820.99978966

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ORMDL1-B2M


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/chr2:190640290/chr15:45008526)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneORMDL1chr2:190640290chr15:45008526ENST00000325795-2327_47108154.0TransmembraneHelical
HgeneORMDL1chr2:190640290chr15:45008526ENST00000392349-4527_47108154.0TransmembraneHelical
HgeneORMDL1chr2:190640290chr15:45008526ENST00000392350-3427_47108154.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneORMDL1chr2:190640290chr15:45008526ENST00000325795-23101_121108154.0TransmembraneHelical
HgeneORMDL1chr2:190640290chr15:45008526ENST00000392349-45101_121108154.0TransmembraneHelical
HgeneORMDL1chr2:190640290chr15:45008526ENST00000392350-34101_121108154.0TransmembraneHelical
TgeneB2Mchr2:190640290chr15:45008526ENST000005584011425_113115498.0DomainNote=Ig-like C1-type
TgeneB2Mchr2:190640290chr15:45008526ENST000005599161325_113115120.0DomainNote=Ig-like C1-type


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Fusion Gene Sequence for ORMDL1-B2M


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.
>61699_61699_1_ORMDL1-B2M_ORMDL1_chr2_190640290_ENST00000392349_B2M_chr15_45008526_ENST00000559916_length(transcript)=1247nt_BP=546nt
AGCTTCCGCAAGCTGCGCAGCGCCGGGCCTGAGGGCGTGTATCCGCGGCCGTAGCAGCCGGGCTGGTCCTGCTGCGAGCCGGCGGCCCGG
AGTGGGGCGGCGGCATGTACCTTCCACATTGAGTATTCAGAAAGAAGTGATCTGAACTCTGACCATTCTTTATGGATACATTAAGTCAAA
TATAAGAGTCTGACTACTTGACACACTGGCTCGAGCAAACATGAACGTTGGAGTTGCCCACAGTGAAGTGAATCCAAATACCCGTGTCAT
GAACAGCCGGGGTATGTGGCTGACATATGCATTGGGAGTTGGCTTGCTTCATATTGTCTTACTCAGCATTCCCTTCTTCAGTGTTCCTGT
TGCTTGGACTTTAACAAATATTATACATAATCTGGGGATGTACGTATTTTTGCATGCAGTGAAAGGAACACCTTTCGAAACTCCTGACCA
GGGTAAAGCAAGGCTCCTAACTCATTGGGAACAACTGGACTATGGAGTACAGTTTACATCTTCACGGAAGTTTTTCACAATTTCTCCAAT
AATTCTATCGAGACATGTAAGCAGCATCATGGAGGTAAGTTTTTGACCTTGAGAAAATGTTTTTGTTTCACTGTCCTGAGGACTATTTAT
AGACAGCTCTAACATGATAACCCTCACTATGTGGAGAACATTGACAGAGTAACATTTTAGCAGGGAAAGAAGAATCCTACAGGGTCATGT
TCCCTTCTCCTGTGGAGTGGCATGAAGAAGGTGTATGGCCCCAGGTATGGCCATATTACTGACCCTCTACAGAGAGGGCAAAGGAACTGC
CAGTATGGTATTGCAGGATAAAGGCAGGTGGTTACCCACATTACCTGCAAGGCTTTGATCTTTCTTCTGCCATTTCCACATTGGACATCT
CTGCTGAGGAGAGAAAATGAACCACTCTTTTCCTTTGTATAATGTTGTTTTATTCTTCAGACAGAAGAGAGGAGTTATACAGCTCTGCAG
ACATCCCATTCCTGTATGGGGACTGTGTTTGCCTCTTAGAGGTTCCCAGGCCACTAGAGGAGATAAAGGGAAACAGATTGTTATAACTTG
ATATAATGATACTATAATAGATGTAACTACAAGGAGCTCCAGAAGCAAGAGAGAGGGAGGAACTTGGACTTCTCTGCATCTTTAGTTGGA

>61699_61699_1_ORMDL1-B2M_ORMDL1_chr2_190640290_ENST00000392349_B2M_chr15_45008526_ENST00000559916_length(amino acids)=126AA_BP=
MARANMNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFSVPVAWTLTNIIHNLGMYVFLHAVKGTPFETPDQGKARLLTH

--------------------------------------------------------------
>61699_61699_2_ORMDL1-B2M_ORMDL1_chr2_190640290_ENST00000392350_B2M_chr15_45008526_ENST00000558401_length(transcript)=1728nt_BP=429nt
GCAAGCTGCGCAGCGCCGGGCCTGAGGGCGTGTATCCGCGGCCGTAGCAGCCGGGCTGGTCCTGCTGCGAGCCGGCGGCCCGGAGTGGGG
CGGCGGAGCAAACATGAACGTTGGAGTTGCCCACAGTGAAGTGAATCCAAATACCCGTGTCATGAACAGCCGGGGTATGTGGCTGACATA
TGCATTGGGAGTTGGCTTGCTTCATATTGTCTTACTCAGCATTCCCTTCTTCAGTGTTCCTGTTGCTTGGACTTTAACAAATATTATACA
TAATCTGGGGATGTACGTATTTTTGCATGCAGTGAAAGGAACACCTTTCGAAACTCCTGACCAGGGTAAAGCAAGGCTCCTAACTCATTG
GGAACAACTGGACTATGGAGTACAGTTTACATCTTCACGGAAGTTTTTCACAATTTCTCCAATAATTCTATCGAGACATGTAAGCAGCAT
CATGGAGGTTTGAAGATGCCGCATTTGGATTGGATGAATTCCAAATTCTGCTTGCTTGCTTTTTAATATTGATATGCTTATACACTTACA
CTTTATGCACAAAATGTAGGGTTATAATAATGTTAACATGGACATGATCTTCTTTATAATTCTACTTTGAGTGCTGTCTCCATGTTTGAT
GTATCTGAGCAGGTTGCTCCACAGGTAGCTCTAGGAGGGCTGGCAACTTAGAGGTGGGGAGCAGAGAATTCTCTTATCCAACATCAACAT
CTTGGTCAGATTTGAACTCTTCAATCTCTTGCACTCAAAGCTTGTTAAGATAGTTAAGCGTGCATAAGTTAACTTCCAATTTACATACTC
TGCTTAGAATTTGGGGGAAAATTTAGAAATATAATTGACAGGATTATTGGAAATTTGTTATAATGAATGAAACATTTTGTCATATAAGAT
TCATATTTACTTCTTATACATTTGATAAAGTAAGGCATGGTTGTGGTTAATCTGGTTTATTTTTGTTCCACAAGTTAAATAAATCATAAA
ACTTGATGTGTTATCTCTTATATCTCACTCCCACTATTACCCCTTTATTTTCAAACAGGGAAACAGTCTTCAAGTTCCACTTGGTAAAAA
ATGTGAACCCCTTGTATATAGAGTTTGGCTCACAGTGTAAAGGGCCTCAGTGATTCACATTTTCCAGATTAGGAATCTGATGCTCAAAGA
AGTTAAATGGCATAGTTGGGGTGACACAGCTGTCTAGTGGGAGGCCAGCCTTCTATATTTTAGCCAGCGTTCTTTCCTGCGGGCCAGGTC
ATGAGGAGTATGCAGACTCTAAGAGGGAGCAAAAGTATCTGAAGGATTTAATATTTTAGCAAGGAATAGATATACAATCATCCCTTGGTC
TCCCTGGGGGATTGGTTTCAGGACCCCTTCTTGGACACCAAATCTATGGATATTTAAGTCCCTTCTATAAAATGGTATAGTATTTGCATA
TAACCTATCCACATCCTCCTGTATACTTTAAATCATTTCTAGATTACTTGTAATACCTAATACAATGTAAATGCTATGCAAATAGTTGTT
ATTGTTTAAGGAATAATGACAAGAAAAAAAAGTCTGTACATGCTCAGTAAAGACACAACCATCCCTTTTTTTCCCCAGTGTTTTTGATCC
ATGGTTTGCTGAATCCACAGATGTGGAGCCCCTGGATACGGAAGGCCCGCTGTACTTTGAATGACAAATAACAGATTTAAAATTTTCAAG

>61699_61699_2_ORMDL1-B2M_ORMDL1_chr2_190640290_ENST00000392350_B2M_chr15_45008526_ENST00000558401_length(amino acids)=135AA_BP=
MVLLRAGGPEWGGGANMNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFSVPVAWTLTNIIHNLGMYVFLHAVKGTPFET

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ORMDL1-B2M


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 ORMDL1-B2M


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ORMDL1-B2M


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0022658Kidney Diseases3CTD_human
TgeneC0022660Kidney Failure, Acute3CTD_human
TgeneC1565662Acute Kidney Insufficiency3CTD_human
TgeneC2609414Acute kidney injury3CTD_human
TgeneC1855796Hypoproteinemia, Hypercatabolic2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0020455Hypergammaglobulinemia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0079774Peripheral T-Cell Lymphoma1CTD_human
TgeneC0268389Amyloidosis, familial visceral1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC1858266Bare Lymphocyte Syndrome, Type I1ORPHANET
TgeneC4302669Autosomal dominant beta2-microglobulinic amyloidosis1ORPHANET