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 0.800 strong 0.972 5 13 1990 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		P40692 mutL homolog 1 Nucleic acid binding 15 0.399 0.808 3.4E-05 0.800 strong 0.973 3 2 1993 2020
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		P01111 NRAS proto-oncogene, GTPase Enzyme modulator 37 0.390 0.808 0.49 0.800 strong 0.966 0 1 1993 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 20 0.406 0.808 0.90 0.800 strong 0.971 0 2 1993 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		P35222 catenin beta 1 70 0.303 0.885 1.00 0.700 None 0.983 0 3 1997 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 0.700 None 0.985 0 5 2002 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.700 None 0.947 0 7 1989 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.700 None 0.976 0 5 2002 2020
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 1 0.528 0.731 4.9E-09 0.700 None 1.000 0 1 2000 2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.700 limited 0.885 0 1 2003 2019
Entrez Id: 1630
Gene Symbol: DCC
DCC 		P43146 DCC netrin 1 receptor 9 0.471 0.808 0.99 0.700 None 0.946 0 1 1990 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.660 None 1.000 0 8 2000 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 28 0.459 0.846 1.00 0.640 None 1.000 1 4 1996 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		Q9UIF7 mutY DNA glycosylase Enzyme 16 0.521 0.769 1.3E-18 0.500 strong 0.947 22 9 2002 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 33 0.484 0.808 4.5E-27 0.500 strong 0.967 0 1 1998 2020
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2 		Q9Y2T1 axin 2 3 0.507 0.692 0.57 0.500 None 0.905 0 3 2001 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		P37231 peroxisome proliferator activated receptor gamma Nuclear receptor 8 0.358 0.885 2.9E-02 0.500 None 0.938 0 4 2000 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2 		P00403 cytochrome c oxidase subunit II Enzyme 6 0.352 0.962 0.500 None 0.975 0 3 1994 2020
Entrez Id: 4512
Gene Symbol: COX1
COX1 		P00395 cytochrome c oxidase subunit I Enzyme 11 0.441 0.885 0.500 None 1.000 0 2 1994 2019
Entrez Id: 27030
Gene Symbol: MLH3
MLH3 		Q9UHC1 mutL homolog 3 Nucleic acid binding 3 0.582 0.538 4.9E-08 0.500 None 0.833 0 1 2000 2019
Entrez Id: 4163
Gene Symbol: MCC
MCC 		P23508 MCC regulator of WNT signaling pathway 1 0.568 0.731 4.7E-16 0.500 None 0.929 0 2 1991 2018
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 47 0.455 0.846 1.00 0.490 None 1.000 0 1 2014 2019
Entrez Id: 10395
Gene Symbol: DLC1
DLC1 		Q96QB1 DLC1 Rho GTPase activating protein 5 0.529 0.731 1.00 0.450 None 1.000 0 1 2013 2019
Entrez Id: 5157
Gene Symbol: PDGFRL
PDGFRL 		Q15198 platelet derived growth factor receptor like Enzyme 1 0.769 0.385 1.2E-14 0.410 None 1.000 0 1 1995 2010
Entrez Id: 4539
Gene Symbol: ND4L
ND4L 		P03901 NADH dehydrogenase, subunit 4L (complex I) Enzyme 2 0.805 0.308 0.400 None 0 1