Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		0.300 Biomarker disease CLINGEN
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		0.300 Biomarker disease CLINGEN A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. 20603073 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. 10528862 1999
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463 2005
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.300 Biomarker disease CLINGEN A pathology atlas of the human cancer transcriptome. 28818916 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. 19760518 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.300 Biomarker disease CLINGEN Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1. 11498787 2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.300 Biomarker disease CLINGEN Alterations of Chk1 and Chk2 expression in colon cancer. 18679694 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.600 GeneticVariation disease 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: 4436
Gene Symbol: MSH2
MSH2 		0.600 CausalMutation disease 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: 4436
Gene Symbol: MSH2
MSH2 		0.600 Biomarker disease GENOMICS_ENGLAND 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: 2956
Gene Symbol: MSH6
MSH6 		0.110 CausalMutation disease 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 		0.100 CausalMutation disease 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