MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Torre-Muir syndrome ×
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 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
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 AlteredExpression disease BEFREE Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. 10815898 2000
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker disease BEFREE MSH2 is a mismatch repair gene that is important in the pathogenesis of HNPCC and Muir-Torre syndrome. 9046882 1997
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker disease 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
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 Biomarker disease CTD_human