Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker MGD

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 Biomarker MGD

Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
Hereditary Nonpolyposis Colorectal Neoplasms
0.410 GeneticVariation CLINVAR

Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR [A method of study for stomatological materials]. 1061282

1976

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Immunosuppression. Binding by design. 1710317

1991

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Oxidative metabolism in reperfused myocardium. 1756143

1991

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation CLINVAR """Central arousal"" and sexual responsiveness in the snail, Helix aspersa." 2059188

1991

Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
Hereditary Nonpolyposis Colorectal Neoplasms
0.100 CausalMutation CLINVAR """Central arousal"" and sexual responsiveness in the snail, Helix aspersa." 2059188

1991

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation CLINVAR Review of the basic principles of drug action. 2440087

1986

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. 7516776

1994

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. 7557107

1995

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Genetic instability occurs in the majority of young patients with colorectal cancer. 7585065

1995

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264

1995

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265

1995

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation CLINVAR Mismatch repair deficiency in phenotypically normal human cells. 7632227

1995

Entrez Id: 324
Gene Symbol: APC
APC
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CTD_human The molecular basis of Turcot's syndrome. 7661930

1995

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. 7726159

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Alternative splicing of MLH1 messenger RNA in human normal cells. 7728749

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC) 7757073

1995

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Genetic instability in human ovarian cancer cell lines. 7937795

1994

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. 8062247

1994

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. 8062247

1994

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530

1994