Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		0.300 Biomarker disease CLINGEN
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1 		0.300 Biomarker disease 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 		0.710 CausalMutation disease CLINVAR In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. 7557107 1995
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.010 GeneticVariation disease BEFREE We examined alterations of p16 in 78 primary genital tumors (42 testicular, 21 ovarian and 15 endometrial cancers) and mononuclear cells from 2 patients with Lynch syndrome II as well as 5 testicular tumor cell lines by single-strand conformation polymorphism (SSCP) and Southern blot hybridization. 7563391 1995
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10 		0.010 GeneticVariation disease BEFREE We examined alterations of p16 in 78 primary genital tumors (42 testicular, 21 ovarian and 15 endometrial cancers) and mononuclear cells from 2 patients with Lynch syndrome II as well as 5 testicular tumor cell lines by single-strand conformation polymorphism (SSCP) and Southern blot hybridization. 7563391 1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT 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: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CLINGEN Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. 7892206 1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CLINGEN Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. 8145827 1994
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. 8571956 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CLINGEN Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. 8581513 1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		0.300 Biomarker disease CLINGEN hMutSbeta, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. 8805365 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570 1996
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		0.300 Biomarker disease CLINGEN hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. 8942985 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. 9048925 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system. 9067757 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. 9218993 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue. 9272156 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827 1997