Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.800 strong 0.952 1 3 1972 2019
Entrez Id: 3621
Gene Symbol: ING1
ING1 		Q9UK53 inhibitor of growth family member 1 Nucleic acid binding 1 0.573 0.692 9.7E-03 0.710 None 1.000 0 3 2000 2000
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		P00533 epidermal growth factor receptor Kinase 23 0.295 0.885 0.37 0.500 None 0.982 4 4 1992 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.500 None 0.983 1 7 1994 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.500 None 0.973 1 80 1991 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 85 0.292 0.923 1.00 0.500 None 1.000 1 29 2001 2020
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		Q16236 nuclear factor, erythroid 2 like 2 Enzyme 10 0.357 0.885 3.6E-03 0.440 None 1.000 1 5 2013 2019
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		P28482 mitogen-activated protein kinase 1 Kinase 3 0.330 0.923 1.00 0.200 None 1.000 1 1 2010 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		P04626 erb-b2 receptor tyrosine kinase 2 Kinase 23 0.328 0.923 6.0E-03 0.200 None 0.958 1 1 1992 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		Q13485 SMAD family member 4 Transcription factor 16 0.401 0.808 1.00 0.200 None 1.000 1 2 1996 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.200 None 0.889 1 2 2005 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.150 None 1.000 1 2 2014 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.150 None 1.000 1 6 1990 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.130 None 0.750 1 4 2003 2016
Entrez Id: 55294
Gene Symbol: FBXW7
FBXW7 		Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 18 0.465 0.808 1.00 0.120 None 1.000 1 7 2016 2019
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 28 0.459 0.846 1.00 0.110 None 1.000 1 1 2016 2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 40 0.428 0.808 1.00 0.110 None 1.000 1 2 2016 2018
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		P63000 Rac family small GTPase 1 Enzyme modulator 5 0.429 0.962 0.76 0.110 None 1.000 1 2 2014 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		Q02750 mitogen-activated protein kinase kinase 1 Kinase 26 0.439 0.846 0.90 0.110 None 1.000 1 2 2016 2019
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1 		P0DN76 Q01081 U2 small nuclear RNA auxiliary factor 1 Nucleic acid binding 9 0.604 0.577 0.99 0.100 None 1.000 1 1 2016 2016
Entrez Id: 567
Gene Symbol: B2M
B2M 		P61769 beta-2-microglobulin Immune response 12 0.447 0.846 0.56 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		P36507 mitogen-activated protein kinase kinase 2 Kinase 8 0.534 0.731 0.97 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 26 0.588 0.577 0.98 0.100 None 1.000 1 2 2016 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		P61586 ras homolog family member A Enzyme modulator 7 0.502 0.808 0.60 0.100 None 1.000 1 2 2016 2016