somatic mutation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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65 genes associated with the somatic mutation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
AIP aryl hydrocarbon receptor interacting protein
APC adenomatous polyposis coli
ARHGAP26 Rho GTPase activating protein 26
ASCC1 activating signal cointegrator 1 complex subunit 1
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
ASXL1 additional sex combs like transcriptional regulator 1
AXIN1 axin 1
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
BRCA2 breast cancer 2, early onset
CALR calreticulin
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CDC73 cell division cycle 73
CREB1 cAMP responsive element binding protein 1
CTHRC1 collagen triple helix repeat containing 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DDIT3 DNA-damage-inducible transcript 3
ERBB2 erb-b2 receptor tyrosine kinase 2
EWSR1 EWS RNA-binding protein 1
FGFR2 fibroblast growth factor receptor 2
GNAS GNAS complex locus
GPC3 glypican 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
IGF2R insulin-like growth factor 2 receptor
IRF1 interferon regulatory factor 1
IRF4 interferon regulatory factor 4
ITS Insulinoma tumor suppressor gene locus
JAK2 Janus kinase 2
KLF6 Kruppel-like factor 6
KRAS Kirsten rat sarcoma viral oncogene homolog
MET MET proto-oncogene, receptor tyrosine kinase
MPL MPL proto-oncogene, thrombopoietin receptor
MSR1 macrophage scavenger receptor 1
MUTYH mutY homolog
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NR4A3 nuclear receptor subfamily 4, group A, member 3
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRL platelet-derived growth factor receptor-like
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PRKCA protein kinase C, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RARA retinoic acid receptor, alpha
RB1 retinoblastoma 1
RPS14 ribosomal protein S14
SF3B1 splicing factor 3b, subunit 1, 155kDa
SH2B3 SH2B adaptor protein 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SSTR5 somatostatin receptor 5
SSX1 synovial sarcoma, X breakpoint 1
SSX2 synovial sarcoma, X breakpoint 2
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TET2 tet methylcytosine dioxygenase 2
TFE3 transcription factor binding to IGHM enhancer 3
TFG TRK-fused gene
THPO thrombopoietin
TP53 tumor protein p53
WT1 Wilms tumor 1