Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 SusceptibilityMutation disease CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192 2008
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 SusceptibilityMutation disease CLINVAR APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. 11159880 2001
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 SusceptibilityMutation disease CLINVAR The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. 9731533 1998
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 SusceptibilityMutation disease CLINVAR The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771 1998
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 SusceptibilityMutation disease CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102 1997
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.800 CausalMutation disease CLINVAR
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.800 CausalMutation disease CLINVAR
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 CausalMutation disease CLINVAR
Entrez Id: 324
Gene Symbol: APC
APC 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 1630
Gene Symbol: DCC
DCC 		0.700 CausalMutation disease CLINVAR
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.700 CausalMutation disease CLINVAR
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.700 CausalMutation disease CLINVAR
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.700 CausalMutation disease CLINVAR
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.660 CausalMutation disease CLINVAR
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.640 CausalMutation disease CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		0.500 CausalMutation disease CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		0.500 CausalMutation disease CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		0.500 CausalMutation disease CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763 2012