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 CLINVAR Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 AlteredExpression BEFREE Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. 10815898

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker BEFREE MSH2 is a mismatch repair gene that is important in the pathogenesis of HNPCC and Muir-Torre syndrome. 9046882

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker BEFREE We did not detect any correlation between clinical phenotype and the genetic linkage results, but a Muir-Torre syndrome family excluded from linkage to hMLH1 was likely to be linked to hMSH2 and showed microsatellite instability in a tumour from an affected relative. 7616541

1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 CausalMutation CLINVAR

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