Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 Biomarker group MGD
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 Biomarker group MGD
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		0.410 GeneticVariation group CLINVAR
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		0.300 Biomarker group CLINGEN
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 CausalMutation group CLINVAR """Central arousal"" and sexual responsiveness in the snail, Helix aspersa." 2059188 1991
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 CausalMutation group CLINVAR """Central arousal"" and sexual responsiveness in the snail, Helix aspersa." 2059188 1991
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR """Null pattern"" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation." 22067334 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group LHGDN A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. 12203789 2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation. 26232782 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 Biomarker group CTD_human 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 		0.700 CausalMutation group CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 CausalMutation group CLINVAR A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer. 27456091 2016
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 CausalMutation group CLINVAR A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer. 27456091 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 Biomarker group CTD_human A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization. 21064154 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability. 14985405 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 CausalMutation group CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		0.300 Biomarker group 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 		0.900 GeneticVariation group 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 		0.900 CausalMutation group CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.700 GeneticVariation group CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 GeneticVariation group LHGDN A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		0.640 CausalMutation group CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		0.100 CausalMutation group CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 CausalMutation group CLINVAR A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. 19039682 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.640 GeneticVariation group CLINVAR A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015