Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR The alpha-helix dipole and the properties of proteins. 661956

1978

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutation of a mutL homolog in hereditary colon cancer. 8128251

1994

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. 7704024

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. 8592341

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. 8521394

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. 7557107

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. 8592341

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred. 8630936

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. 8776590

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer. 8971183

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. 8808596

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. 8863153

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors. 9377556

1997