rs63750453, MLH1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 GeneticVariation CLINVAR
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306 2001
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
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 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. 8571956 1996
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online. 10627141 1998
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. 11748856 2001
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 Missense mutations in hMLH1 associated with colorectal cancer. 10598809 1999
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 Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463 1996
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423 1999
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977 2008
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007