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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:ETV6-ITPR2 (FusionGDB2 ID:HG2120TG3709)

Fusion Gene Summary for ETV6-ITPR2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6-ITPR2
Fusion gene ID: hg2120tg3709
HgeneTgene
Gene symbol

ETV6

ITPR2

Gene ID

2120

3709

Gene nameETS variant transcription factor 6inositol 1,4,5-trisphosphate receptor type 2
SynonymsTEL|TEL/ABL|THC5ANHD|CFAP48|INSP3R2|IP3R2
Cytomap('ETV6')('ITPR2')

12p13.2

12p11.23

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor
Modification date2020031320200313
UniProtAcc

P41212

Q14571

Ensembl transtripts involved in fusion geneENST00000544715, ENST00000396373, 
Fusion gene scores* DoF score59 X 37 X 25=5457527 X 21 X 12=6804
# samples 5827
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/6804*10)=-4.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502

TgeneITPR2

GO:0001666

response to hypoxia

19120137



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
ChimerKB3..ETV6chr12

11905513

+ITPR2chr12

26714885

-


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Fusion Gene ORF analysis for ETV6-ITPR2

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
3UTR-3CDSENST00000544715ENST00000381340ETV6chr12

11905513

+ITPR2chr12

26714885

-
3UTR-intronENST00000544715ENST00000242737ETV6chr12

11905513

+ITPR2chr12

26714885

-
3UTR-intronENST00000544715ENST00000545902ETV6chr12

11905513

+ITPR2chr12

26714885

-
5CDS-intronENST00000396373ENST00000242737ETV6chr12

11905513

+ITPR2chr12

26714885

-
5CDS-intronENST00000396373ENST00000545902ETV6chr12

11905513

+ITPR2chr12

26714885

-
In-frameENST00000396373ENST00000381340ETV6chr12

11905513

+ITPR2chr12

26714885

-

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)
ENST00000396373ETV6chr1211905513+ENST00000381340ITPR2chr1226714885-590143727439121212

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 ETV6-ITPR2


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 ETV6-ITPR2


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/chr12:/chr12:)
- 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
ETV6

P41212

ITPR2

Q14571

FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}.

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 ETV6-ITPR2


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.
>27723_27723_1_ETV6-ITPR2_ETV6_chr12_11905513_ENST00000396373_ITPR2_chr12_26714885_ENST00000381340_length(transcript)=5901nt_BP=437nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTC
CTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCCAAAAAATCGTGG
AATTGCCATTCCAGTGGATTTGGACAGCCAAGTTAATACTCTTTTCATGAAGAGCCATTCAAATATGGTGCAGAGAGCAGCAATGGGTTG
GAGACTATCAGCTCGCTCTGGGCCACGCTTTAAGGAAGCTCTTGGAGGGCCTGCTTGGGATTACAGAAATATTATTGAAAAGTTACAGGA
TGTAGTGGCCTCCTTGGAGCACCAGTTCAGCCCAATGATGCAGGCTGAATTCTCAGTGTTGGTTGATGTATTGTACAGTCCAGAACTGCT
GTTCCCTGAGGGAAGCGATGCAAGAATAAGATGTGGCGCTTTCATGTCGAAGTTGATTAATCATACAAAGAAACTAATGGAGAAAGAAGA
AAAACTGTGCATTAAAATTCTTCAGACATTACGAGAAATGTTAGAGAAGAAAGACAGCTTTGTGGAAGAGGGTAACACATTAAGAAAGAT
ACTTCTGAATCGATACTTTAAAGGTGATTATAGTATTGGTGTGAATGGACACCTATCAGGAGCCTACTCCAAAACTGCACAGGTGGGAGG
AAGCTTTTCTGGACAAGATTCAGATAAGATGGGGATATCAATGTCAGACATTCAGTGTCTGCTGGATAAAGAAGGTGCATCAGAACTTGT
CATCGATGTTATAGTGAACACCAAAAATGACAGAATTTTTTCAGAAGGCATTTTCCTCGGCATTGCCTTGCTTGAAGGAGGAAATACACA
AACACAGTATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCA
GAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCC
ACGAATGAGAGTAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATA
TTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGA
AGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAGAA
CTTCTTGAGGAATCAAAACAACAAAACAAATTACAACCTAGTCTGTGAGACCCTTCAGTTTCTGGACTGCATTTGTGGAAGTACAACCGG
TGGCCTGGGCCTGTTGGGTCTCTACATCAATGAGAAGAATGTAGCGCTGGTCAACCAGAACCTGGAGAGCTTGACTGAGTATTGCCAGGG
CCCTTGCCATGAAAATCAGACCTGTATCGCTACACATGAGTCTAATGGGATTGATATCATCATTGCTTTGATTCTGAATGACATAAACCC
TCTTGGTAAATACCGAATGGACCTGGTGCTCCAGCTAAAGAACAATGCATCTAAACTTTTGCTGGCCATTATGGAAAGCAGACATGACAG
TGAGAATGCAGAAAGAATTCTTTTTAACATGAGACCCAGAGAACTGGTGGATGTGATGAAGAATGCCTATAACCAAGGATTGGAATGTGA
CCATGGGGATGATGAGGGTGGAGATGATGGTGTTTCTCCAAAAGATGTTGGACACAATATCTATATTCTGGCCCATCAGTTGGCCCGCCA
CAATAAACTGTTGCAGCAGATGCTCAAACCAGGATCGGATCCAGATGAAGGAGATGAAGCCTTAAAGTATTATGCCAACCACACTGCACA
GATTGAGATTGTCCGGCATGATAGGACCATGGAACAAATAGTTTTTCCTGTCCCCAATATATGTGAATACCTCACTCGAGAATCCAAGTG
CCGTGTGTTCAATACAACTGAAAGGGATGAACAAGGAAGTAAAGTGAATGACTTTTTCCAGCAAACAGAAGATCTCTACAATGAAATGAA
GTGGCAGAAGAAAATCAGGAATAACCCTGCACTGTTCTGGTTCTCGAGGCACATCTCTCTCTGGGGGAGCATTTCCTTCAACCTGGCTGT
GTTCATCAATTTAGCTGTTGCTCTCTTCTACCCATTTGGGGATGATGGAGATGAAGGTACACTTTCTCCATTGTTCTCGGTTCTTCTTTG
GATAGCAGTTGCGATCTGCACATCTATGCTGTTTTTCTTCTCCAAGCCTGTGGGTATTCGGCCGTTTCTTGTATCAATAATGCTCAGATC
AATATATACAATAGGTCTTGGGCCTACATTAATACTTCTTGGTGCAGCTAATCTTTGTAATAAAATTGTTTTTCTGGTGAGTTTTGTTGG
AAATCGTGGCACGTTCACCCGTGGGTACCGAGCAGTCATCCTGGATATGGCCTTTCTCTATCACGTGGCGTATGTCCTGGTTTGCATGCT
GGGCCTTTTTGTCCATGAATTCTTCTATAGCTTCCTGCTTTTTGATTTGGTGTACAGGGAAGAGACTTTGCTGAATGTCATAAAAAGTGT
CACACGAAATGGCCGCTCTATTATTCTAACTGCAGTCCTGGCTCTCATCCTCGTCTACCTGTTTTCCATTATTGGGTTCCTTTTTTTGAA
GGATGACTTCACTATGGAAGTTGATAGGCTGAAAAACCGAACTCCTGTTACAGGCAGTCATCAAGTGCCTACTATGACTTTAACTACCAT
GATGGAAGCATGTGCCAAGGAGAACTGTTCACCCACAATTCCAGCTTCAAATACAGCTGATGAAGAGTATGAAGATGGAATTGAAAGGAC
GTGTGACACTCTCCTTATGTGCATTGTCACCGTGCTGAACCAGGGCCTCAGGAATGGCGGTGGTGTGGGGGATGTGCTAAGAAGGCCATC
GAAAGATGAGCCCTTGTTTGCTGCCCGAGTGGTTTATGACCTTCTTTTTTATTTCATTGTTATCATTATTGTTCTGAACTTGATTTTTGG
TGTTATCATCGATACTTTTGCTGATCTCAGAAGCGAAAAACAGAAAAAAGAAGAAATTCTAAAGACAACTTGTTTCATCTGTGGACTTGA
GAGAGACAAGTTTGATAATAAAACGGTTTCATTTGAGGAGCACATTAAGTCAGAACACAATATGTGGCATTATTTGTACTTCATAGTCCT
GGTGAAAGTTAAAGACCCAACAGAATACACTGGACCTGAAAGTTATGTGGCTCAAATGATTGTGGAGAAGAATTTGGATTGGTTTCCTCG
GATGCGAGCCATGTCCCTCGTTAGCAATGAAGGCGACAGTGAGCAAAATGAAATTCGGAGCCTTCAGGAGAAGTTGGAATCGACCATGAG
TCTGGTCAAACAGCTGTCGGGTCAGCTGGCGGAGCTCAAGGAGCAGATGACAGAACAAAGGAAGAATAAGCAGAGACTGGGCTTCCTCGG
ATCAAACACACCCCATGTGAATCATCACATGCCACCACACTGATACCATGGGGGGAAGCCGTGACTAGCCTTTCATCAGTGTCCTGCCTG
ATCACTGAATAAAGAACTGAGATGGAGGGGAGTGAACAGTGCCTATTGTTGAAAAGTTAAAAACAACCAAGTGCCAAGATGTTGAGTGGG
TTAGCTCCGAGAACAATTTATAACTGTGTTTTCATGGTTGCGAAGACCTAACCTCAAATGCATCTGCTAGAAAGCGTACATCACACATTC
GCAATGCATCAGGAAGAAAAGGCTTGCCCAAAAGGCTGGAGAGGGCAGGGAGCGGCAGGATGGAAGGAGACACGGGGCAGGGAGAACTCT
CTTCTGCTAAATCGATAGGAGTCAGTTTTGTCTTAAATGCTGACTACAGCCACTGACATGGTTGGCTGGAATTTCTTTCTTTTAATTGTG
GCATATAGGTTTGTGACACAAGAAGTCATACTTTGGTGGCTAAGTTTTACTAAGGAAAATAACTGAAAAGATTAAAAGTGAGAGCTGAAA
AGAGAAATGATAATGCTTCCAAACTGTAGCTGTCACAGGGCAATTTCTTTATTTATAACATGAAGCACAATGGATTTACAGCTCTAGGAA
CTTAGTACTTTGGAGCTTTTGCCTCTCACACTGACAACATAACAGGATGTGATTGCCTTCTCTGGGATTCAGACAGGCTCTGTCAATGTG
GAGCACAAAAGGAGATTTTCATATAACTTGTTAAAAACATGTTCTAAGTCATGTATAGGCTAAGATTTTAAGAAGATCTGGGGGAATAAA
AAGCCAACAGTAAGCCCCAGGAAAGGGTTTTTTGAGACCATATGTATGCTATTAAAATATATTGAGATTAATACATGAAAATGCTTAAAA
GTGATAGGAATTATTGAGAAACTTATGATGGTGGCATTGCCTTTTATAAACATGGAGTGAAAGCCATTTGACTCAACGTTTGCTGTGCTT
AAAGAATTGCTTCAGGACCCGAGCGTTTTTATGTATGCTGTTCCTGCAGTTAGGAAAAAAAAATCCAAGAAATGTATTGAATACTCAAGA
AAATGCCACATTTCAATTACATATTTAAAACTGTATCTGTAAGGGCTTTTCAAAATGTAGCAAGATAAAAATCTCTTATTCAAATTGTTT
TTGTATTAAATCATGCACTCAGAATTTGTCGAGGGAGAGAATAACCTGGTGTGTTCAGGTTATTCTTAGAGACTACACATTTGGAATAGC
AGAGCAAAATATGGATAATGAAAGTGTTGGGAAAAAAGTGATGTGACAGGGAGTGAAGACACTTGATACCAGACTCTGGGAGATACTCTG
CAAGTTGACCTGGCCTCTCCCCCACAGGAACAAAACACTGCCTCCAGAGTCTTTAAATTCTCAGTTATCAACGCCAAGGTTTAAGGTCTA
GATAGGGTTTGCTATAGGGTTTGCTCTGACAATTTTTAAAGCTTTTGGATTGTTCTAACATAGCTTAAGCTATTGGTTCCTAAAAATCCC
AAATCAAGATCTATGTAGAATATAAAGGAAGCCTGAACCAATCCTTCCACATACTGTTAAGATGTAGACTTGGAACAAAGCTGTTGGGAC
CCAGAGCAATGAATTTTTGAACTGAAGCTACTGGTACTCCCCAGCACCACCTCATACTAAGAATTCCTCACTCTGACATGACAGTATTTT
TTCTGACCAGGAGCTGAAAGACCCTGACATTCATGATCCAAAGATATAAGAAATTTTGATATGTCTGCATGCAGCACAGAACTTTGAACC
TAGGAGGCAGTCAATAAATACATGAGAAATTCAGCTGTCATTCAGTTACTCTTAATTCTTTATAAAACTTTAAATGATACCACATATTTG
TTTGTTTAAAATGGCTTTCCCAAAATCAAAGTAGACTAAAGCAGCCATCTTTAAAATCCAGGATCATCAATGCTATTAACAGTATCAGGT

>27723_27723_1_ETV6-ITPR2_ETV6_chr12_11905513_ENST00000396373_ITPR2_chr12_26714885_ENST00000381340_length(amino acids)=1212AA_BP=55
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLPKNRGIAIPVDLDSQVNTLFMKSHSNMVQRAAMGWR
LSARSGPRFKEALGGPAWDYRNIIEKLQDVVASLEHQFSPMMQAEFSVLVDVLYSPELLFPEGSDARIRCGAFMSKLINHTKKLMEKEEK
LCIKILQTLREMLEKKDSFVEEGNTLRKILLNRYFKGDYSIGVNGHLSGAYSKTAQVGGSFSGQDSDKMGISMSDIQCLLDKEGASELVI
DVIVNTKNDRIFSEGIFLGIALLEGGNTQTQYSFYQQLHEQKKSEKFFKVLYDRMKAAQKEIRSTVTVNTIDLGNKKRDDDNELMTSGPR
MRVRDSTLHLKEGMKGQLTEASSATSKAYCVYRREMDPEIDIMCTGPEAGNTEEKSAEEVTMSPAIAIMQPILRFLQLLCENHNRELQNF
LRNQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALVNQNLESLTEYCQGPCHENQTCIATHESNGIDIIIALILNDINPL
GKYRMDLVLQLKNNASKLLLAIMESRHDSENAERILFNMRPRELVDVMKNAYNQGLECDHGDDEGGDDGVSPKDVGHNIYILAHQLARHN
KLLQQMLKPGSDPDEGDEALKYYANHTAQIEIVRHDRTMEQIVFPVPNICEYLTRESKCRVFNTTERDEQGSKVNDFFQQTEDLYNEMKW
QKKIRNNPALFWFSRHISLWGSISFNLAVFINLAVALFYPFGDDGDEGTLSPLFSVLLWIAVAICTSMLFFFSKPVGIRPFLVSIMLRSI
YTIGLGPTLILLGAANLCNKIVFLVSFVGNRGTFTRGYRAVILDMAFLYHVAYVLVCMLGLFVHEFFYSFLLFDLVYREETLLNVIKSVT
RNGRSIILTAVLALILVYLFSIIGFLFLKDDFTMEVDRLKNRTPVTGSHQVPTMTLTTMMEACAKENCSPTIPASNTADEEYEDGIERTC
DTLLMCIVTVLNQGLRNGGGVGDVLRRPSKDEPLFAARVVYDLLFYFIVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLER
DKFDNKTVSFEEHIKSEHNMWHYLYFIVLVKVKDPTEYTGPESYVAQMIVEKNLDWFPRMRAMSLVSNEGDSEQNEIRSLQEKLESTMSL

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Fusion Gene PPI Analysis for ETV6-ITPR2


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 ETV6-ITPR2


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 ETV6-ITPR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C4015537THROMBOCYTOPENIA 54CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia3CTD_human;GENOMICS_ENGLAND
HgeneETV6C0023480Leukemia, Myelomonocytic, Chronic2ORPHANET
HgeneETV6C1332965Congenital Mesoblastic Nephroma2ORPHANET
HgeneETV6C0006413Burkitt Lymphoma1ORPHANET
HgeneETV6C0013146Drug abuse1CTD_human
HgeneETV6C0013170Drug habituation1CTD_human
HgeneETV6C0013222Drug Use Disorders1CTD_human
HgeneETV6C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;GENOMICS_ENGLAND
HgeneETV6C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneETV6C0038580Substance Dependence1CTD_human
HgeneETV6C0038586Substance Use Disorders1CTD_human
HgeneETV6C0087031Juvenile-Onset Still Disease1CTD_human
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0238463Papillary thyroid carcinoma1ORPHANET
HgeneETV6C0376544Hematopoietic Neoplasms1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C0740858Substance abuse problem1CTD_human
HgeneETV6C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
HgeneETV6C1510472Drug Dependence1CTD_human
HgeneETV6C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1ORPHANET
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C3714758Juvenile psoriatic arthritis1CTD_human
HgeneETV6C4316881Prescription Drug Abuse1CTD_human
HgeneETV6C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneETV6C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0003132Anoxic Encephalopathy1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0995195Anoxia of brain1CTD_human
TgeneC1140716Hypoxic Brain Damage1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1527348Brain Hypoxia1CTD_human
TgeneC1862871ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS1CTD_human;ORPHANET;UNIPROT