Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GermlineCausalMutation ORPHANET Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859

2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GermlineCausalMutation ORPHANET Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397

2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker BEFREE Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397

2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation BEFREE Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. 21550136

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 GermlineCausalMutation ORPHANET A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker 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