MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Evaluation of MLH1 variants of unclear significance. 29520894 2018
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387 2017
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 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: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 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: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977 2008
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009 2007
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 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: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529 2001
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359 1999
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327 1998
dbSNP: rs63751247
rs63751247
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997