MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Both Lynch Syndrome and Muir-Torre Syndrome have been recognized due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6. 26143115 2016
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GermlineCausalMutation disease ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GermlineCausalMutation disease ORPHANET Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 Biomarker disease BEFREE Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397 2014
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease 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
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. 23672746 2013
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. 21550136 2011
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. 19998059 2010
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. 18236172 2008
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). 18270343 2008
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Evidence indicating microsatellite stability in three of 17 patients with a clinical history indicative of Muir-Torre syndrome and a mutation in only MSH-6 suggests that the phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations and further supports the use of immunohistochemistry as a screening tool in patients with Muir-Torre syndrome with an extended panel that includes MSH-6. 18065960 2008
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. 17323113 2007
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease BEFREE Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. 16826164 2006
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GeneticVariation disease CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 GermlineCausalMutation disease ORPHANET A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.800 Biomarker disease BEFREE Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. 12139636 2002