rs63749909, MLH1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer. 10874307 2000
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. 10422993 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. 10422993 1999
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. 19690142 2009
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. 9311737 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759 1998