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: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.984 3 84 1982 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 0.500 None 0.976 17 58 1976 2019
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 0.978 13 34 2004 2020
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.500 None 0.964 11 5 2002 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		P04626 erb-b2 receptor tyrosine kinase 2 Kinase 23 0.328 0.923 6.0E-03 0.500 None 0.975 7 13 1987 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.500 None 1.000 5 6 1998 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		P03372 estrogen receptor 1 Nuclear receptor 4 0.324 0.962 1.00 0.500 None 0.978 3 5 1988 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.500 None 0.987 2 49 1995 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.500 None 1.000 1 5 2003 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		P21802 fibroblast growth factor receptor 2 Kinase 82 0.380 0.808 1.00 0.500 None 0.950 1 4 1991 2016
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3 		P21860 erb-b2 receptor tyrosine kinase 3 Kinase 12 0.448 0.808 1.7E-15 0.500 None 1.000 1 3 1999 2018
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 48 0.485 0.769 3.0E-19 0.500 None 1.000 0 5 2006 2020
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.500 None 0.974 0 2 1996 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.450 None 1.000 2 7 1988 2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 15 0.507 0.731 6.2E-17 0.450 None 1.000 0 1 2003 2008
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		Q99728 BRCA1 associated RING domain 1 7 0.597 0.538 1.4E-24 0.450 None 1.000 0 1 2004 2008
Entrez Id: 9968
Gene Symbol: MED12
MED12 		Q93074 mediator complex subunit 12 Transcription factor 25 0.476 0.769 1.00 0.430 None 1.000 1 1 2014 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 0.420 None 0.667 1 4 2008 2016
Entrez Id: 238
Gene Symbol: ALK
ALK 		Q9UM73 ALK receptor tyrosine kinase Kinase 6 0.396 0.846 3.2E-06 0.400 None 1.000 1 1 2016 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		Q13485 SMAD family member 4 Transcription factor 16 0.401 0.808 1.00 0.150 None 1.000 1 2 1997 2016
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4 		P22455 fibroblast growth factor receptor 4 Kinase 3 0.490 0.769 7.2E-13 0.140 None 1.000 1 1 2003 2010
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		P61586 ras homolog family member A Enzyme modulator 7 0.502 0.808 0.60 0.140 None 1.000 1 3 2004 2016
Entrez Id: 7514
Gene Symbol: XPO1
XPO1 		O14980 exportin 1 Receptor 5 0.504 0.692 1.00 0.120 None 1.000 1 2 2016 2019
Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1 		Q13464 Rho associated coiled-coil containing protein kinase 1 Kinase 2 0.513 0.731 1.00 0.120 None 1.000 1 1 2005 2010
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.110 None 1.000 3 1 2002 2014