rs63750453, MLH1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. 26096739 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
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 Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Comprehensive functional assessment of MLH1 variants of unknown significance. 22736432 2012
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
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 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 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
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 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 Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. 14526391 2003
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 Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 2002
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 Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001