MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669 2007
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187 2006
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
dbSNP: rs63750437
rs63750437
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. 9032648 1997