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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:BMPR1A-PTEN (FusionGDB2 ID:HG657TG5728)

Fusion Gene Summary for BMPR1A-PTEN

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1A-PTEN
Fusion gene ID: hg657tg5728
HgeneTgene
Gene symbol

BMPR1A

PTEN

Gene ID

657

5728

Gene namebone morphogenetic protein receptor type 1Aphosphatase and tensin homolog
Synonyms10q23del|ACVRLK3|ALK3|CD292|SKR510q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1
Cytomap('BMPR1A')('PTEN')

10q23.2

10q23.31

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-1AALK-3BMP type-1A receptorBMPR-1Aactivin A receptor, type II-like kinase 3activin receptor-like kinase 3bone morphogenetic protein receptor, type IAserine/threonine-protein kinase receptor R5phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10PTENepsilonmitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutat
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000372037, ENST00000480152, 
Fusion gene scores* DoF score11 X 10 X 5=55030 X 21 X 10=6300
# samples 1336
** MAII scorelog2(13/550*10)=-2.08091999538357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(36/6300*10)=-4.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BMPR1A [Title/Abstract] AND PTEN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBMPR1A(88516676)-PTEN(89711874), # 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
HgeneBMPR1A

GO:0006468

protein phosphorylation

12065756

HgeneBMPR1A

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9389648|24904118

HgeneBMPR1A

GO:0030509

BMP signaling pathway

9389648|18436533

HgeneBMPR1A

GO:0060391

positive regulation of SMAD protein signal transduction

9389648

TgenePTEN

GO:0001933

negative regulation of protein phosphorylation

20123964

TgenePTEN

GO:0006470

protein dephosphorylation

9256433

TgenePTEN

GO:0008285

negative regulation of cell proliferation

19057511

TgenePTEN

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

21241890

TgenePTEN

GO:0046855

inositol phosphate dephosphorylation

9593664

TgenePTEN

GO:0046856

phosphatidylinositol dephosphorylation

9593664|9811831

TgenePTEN

GO:0050821

protein stabilization

20123964

TgenePTEN

GO:0060070

canonical Wnt signaling pathway

20123964

TgenePTEN

GO:1902807

negative regulation of cell cycle G1/S phase transition

10918569

TgenePTEN

GO:1904668

positive regulation of ubiquitin protein ligase activity

21241890

TgenePTEN

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

21241890

TgenePTEN

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

21241890



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
ChimerDB4LUSCTCGA-77-7140BMPR1Achr10

88516676

+PTENchr10

89711874

+


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Fusion Gene ORF analysis for BMPR1A-PTEN

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
5UTR-3CDSENST00000372037ENST00000371953BMPR1Achr10

88516676

+PTENchr10

89711874

+
5UTR-intronENST00000372037ENST00000472832BMPR1Achr10

88516676

+PTENchr10

89711874

+
intron-3CDSENST00000480152ENST00000371953BMPR1Achr10

88516676

+PTENchr10

89711874

+
intron-intronENST00000480152ENST00000472832BMPR1Achr10

88516676

+PTENchr10

89711874

+

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 BMPR1A-PTEN


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)
BMPR1Achr1088516676+PTENchr1089711874+1.36E-050.9999864
BMPR1Achr1088516676+PTENchr1089711874+1.36E-050.9999864


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 BMPR1A-PTEN


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/:88516676/:89711874)
- 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

- 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 BMPR1A-PTEN


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 BMPR1A-PTEN


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 BMPR1A-PTEN


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 BMPR1A-PTEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR1AC0345893Juvenile polyposis syndrome12CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBMPR1AC1832940JUVENILE POLYPOSIS OF STOMACH5CLINGEN;CTD_human;ORPHANET
HgeneBMPR1AC1868081Juvenile Polyposis Coli5CLINGEN;CTD_human;ORPHANET
HgeneBMPR1AC0015393Eye Abnormalities1CTD_human
HgeneBMPR1AC0376634Craniofacial Abnormalities1CTD_human
HgeneBMPR1AC1720887Female Urogenital Diseases1CTD_human
HgeneBMPR1AC1832587POLYPOSIS SYNDROME, HEREDITARY MIXED, 11ORPHANET
HgeneBMPR1AC1864730Polyposis Syndrome, Hereditary Mixed, 21CTD_human;GENOMICS_ENGLAND
HgeneBMPR1AC2677290COLORECTAL CANCER, SUSCEPTIBILITY TO, 41ORPHANET
HgeneBMPR1AC2677291COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 151ORPHANET
HgeneBMPR1AC3896578Familial Colorectal Cancer Type X1ORPHANET
TgeneC0018553Hamartoma Syndrome, Multiple36CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1959582PTEN Hamartoma Tumor Syndrome23CLINGEN;CTD_human;GENOMICS_ENGLAND
TgeneC0376358Malignant neoplasm of prostate18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0265326Bannayan-Riley-Ruvalcaba Syndrome16CTD_human;GENOMICS_ENGLAND
TgeneC0033578Prostatic Neoplasms15CTD_human
TgeneC0391826Lhermitte-Duclos disease15CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0085261Proteus Syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0376634Craniofacial Abnormalities6CTD_human
TgeneC1854416MACROCEPHALY/AUTISM SYNDROME6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0020796Profound Mental Retardation5CTD_human
TgeneC0025202melanoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0025363Mental Retardation, Psychosocial5CTD_human
TgeneC0476089Endometrial Carcinoma5CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0917816Mental deficiency5CTD_human
TgeneC3714756Intellectual Disability5CTD_human
TgeneC0004352Autistic Disorder4CTD_human
TgeneC0006142Malignant neoplasm of breast4CGI;CTD_human;UNIPROT
TgeneC0014170Endometrial Neoplasms4CTD_human
TgeneC0678222Breast Carcinoma4CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human4CTD_human
TgeneC1458155Mammary Neoplasms4CTD_human
TgeneC1866398Proteus-Like Syndrome (disorder)4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC4704874Mammary Carcinoma, Human4CTD_human
TgeneC0008073Developmental Disabilities3CTD_human
TgeneC0085996Child Development Deviations3CTD_human
TgeneC0085997Child Development Disorders, Specific3CTD_human
TgeneC0345893Juvenile polyposis syndrome3ORPHANET
TgeneC1168401Squamous cell carcinoma of the head and neck3CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1848599VACTERL Association With Hydrocephalus3CTD_human;GENOMICS_ENGLAND
TgeneC0024121Lung Neoplasms2CGI;CTD_human
TgeneC0242379Malignant neoplasm of lung2CGI;CTD_human
TgeneC0282612Prostatic Intraepithelial Neoplasias2CTD_human
TgeneC2751642GLIOMA SUSCEPTIBILITY 22GENOMICS_ENGLAND;UNIPROT
TgeneC0000772Multiple congenital anomalies1CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0003081Anisometropia1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0004565Melanoma, B161CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0009075Melanoma, Cloudman S911CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0011757Developmental Coordination Disorder1CTD_human
TgeneC0014173Endometrial Hyperplasia1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0017638Glioma1CGI;CTD_human;UNIPROT
TgeneC0018598Melanoma, Harding-Passey1CTD_human
TgeneC0018916Hemangioma1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0020564Hypertrophy1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0023012Language Delay1CTD_human
TgeneC0023014Language Development Disorders1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023798Lipoma1CTD_human
TgeneC0023801Lipomatosis1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0023976Long QT Syndrome1CTD_human
TgeneC0024299Lymphoma1CTD_human
TgeneC0025205Melanoma, Experimental1CTD_human
TgeneC0025286Meningioma1CTD_human
TgeneC0026613Motor Skills Disorders1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0036920Sezary Syndrome1CTD_human
TgeneC0037116Silicosis1CTD_human
TgeneC0037274Dermatologic disorders1CTD_human
TgeneC0149925Small cell carcinoma of lung1CTD_human
TgeneC0152427Polydactyly1CTD_human
TgeneC0175704LEOPARD Syndrome1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0205788Histiocytoid hemangioma1CTD_human
TgeneC0205789Hemangioma, Intramuscular1CTD_human
TgeneC0205822Hibernoma1CTD_human
TgeneC0205823Pleomorphic Lipoma1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0206669Hepatocellular Adenoma1CTD_human
TgeneC0206698Cholangiocarcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0241210Speech Delay1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0280302Squamous cell carcinoma of lip1ORPHANET
TgeneC0280313Squamous cell carcinoma of oropharynx1ORPHANET
TgeneC0280321Squamous cell carcinoma of the hypopharynx1ORPHANET
TgeneC0280324Laryngeal Squamous Cell Carcinoma1ORPHANET
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349578Complex Endometrial Hyperplasia1CTD_human
TgeneC0349579Atypical Endometrial Hyperplasia1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0454655Semantic-Pragmatic Disorder1CTD_human
TgeneC0456483Simple Endometrial Hyperplasia1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0585362Squamous cell carcinoma of mouth1CGI;ORPHANET
TgeneC0677608Chorioangioma1CTD_human
TgeneC0677776Hereditary Breast and Ovarian Cancer Syndrome1ORPHANET
TgeneC0751257Auditory Processing Disorder, Central1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC0919267ovarian neoplasm1CGI;CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CGI;CTD_human
TgeneC1176475Ductal Carcinoma1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1266181Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)1ORPHANET
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1835047MELANOMA, CUTANEOUS MALIGNANT, 11GENOMICS_ENGLAND
TgeneC1959588Angioma1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC3163622Papillary Meningioma1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3489413Lipomatosis, Multiple1CTD_human
TgeneC3551915MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO1GENOMICS_ENGLAND
TgeneC3714976ACTIVATED PI3K-DELTA SYNDROME1ORPHANET
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4225426THYROID CANCER, NONMEDULLARY, 21GENOMICS_ENGLAND
TgeneC4551484Leopard Syndrome 11CTD_human