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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503 2008
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503 2008
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. 18094436 2007
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306 2007
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306 2007
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. 18094436 2007
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510 2005
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510 2005
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761 2002
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. 12419761 2002
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998