Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		0.300 Biomarker group CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.010 GeneticVariation group LHGDN The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. 17224235 2007
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.320 Biomarker group CTD_human HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 9590282 1998
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.320 GeneticVariation group LHGDN Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes. 15350299 2004
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.320 GeneticVariation group LHGDN Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors. 12215842 2002
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		0.300 Biomarker group CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		0.300 Biomarker group CLINGEN The chromatin-remodeling enzyme BRG1 promotes colon cancer progression via positive regulation of WNT3A. 27852072 2016
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A 		0.300 Biomarker group CLINGEN Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A 		0.300 Biomarker group CLINGEN Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. 25307848 2014
Entrez Id: 6224
Gene Symbol: RPS20
RPS20 		0.300 Biomarker group CLINGEN Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. 27713038 2017
Entrez Id: 6224
Gene Symbol: RPS20
RPS20 		0.300 Biomarker group CLINGEN Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. 24941021 2014
Entrez Id: 6041
Gene Symbol: RNASEL
RNASEL 		0.010 GeneticVariation group LHGDN The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. 17224235 2007
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		0.300 Biomarker group CLINGEN Tumor Suppressor PTPRJ Is a Target of miR-155 in Colorectal Cancer. 28316102 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 Biomarker group CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR PMS2 involvement in patients suspected of Lynch syndrome. 19132747 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR Mismatch repair deficiency in phenotypically normal human cells. 7632227 1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 GeneticVariation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 Biomarker group CLINGEN Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 GeneticVariation group CLINVAR Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. 16338176 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 GeneticVariation group CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. 22585707 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 22692065 2013