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: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.900 None 0.982 17 9 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.989 2 67 1991 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.700 None 0.985 1 6 1997 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.500 None 0.978 33 10 2002 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 66 0.320 0.923 7.9E-04 0.500 None 0.983 20 12 1990 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		Q13485 SMAD family member 4 Transcription factor 16 0.401 0.808 1.00 0.500 None 1.000 8 8 1996 2016
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		P00533 epidermal growth factor receptor Kinase 23 0.295 0.885 0.37 0.500 None 0.976 1 1 2003 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 0.490 None 1.000 16 32 2004 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.410 None 1.000 9 6 2006 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE 		Q07864 DNA polymerase epsilon, catalytic subunit 10 0.526 0.731 8.0E-27 0.400 None 1.000 1 3 2013 2016
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		P31751 AKT serine/threonine kinase 2 Kinase 4 0.474 0.769 0.64 0.300 None 1.000 2 1 2002 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 71 0.378 0.885 8.0E-02 0.200 None 1.000 3 8 1985 2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.200 None 1.000 1 2 2003 2016
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 1.000 1 7 2002 2016
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2 		P29323 EPH receptor B2 Kinase 2 0.374 0.846 1.00 0.190 None 1.000 1 1 2001 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.160 None 1.000 11 5 2004 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 45 0.418 0.885 0.85 0.130 None 1.000 1 1 2002 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.130 None 1.000 1 2 2014 2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		Q02750 mitogen-activated protein kinase kinase 1 Kinase 26 0.439 0.846 0.90 0.120 None 1.000 1 4 2005 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 2004 2016
Entrez Id: 567
Gene Symbol: B2M
B2M 		P61769 beta-2-microglobulin Immune response 12 0.447 0.846 0.56 0.110 None 1.000 1 3 2007 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.110 None 1.000 1 3 2016 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		P61586 ras homolog family member A Enzyme modulator 7 0.502 0.808 0.60 0.110 None 1.000 1 2 2008 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.110 None 1.000 1 2 2010 2016
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3 		P21860 erb-b2 receptor tyrosine kinase 3 Kinase 12 0.448 0.808 1.7E-15 0.110 None 1.000 1 1 2011 2016