MLH1, mutL homolog 1, 4292

N. diseases: 31; N. variants: 711
Disease: Torre-Muir syndrome ×
Source: CURATED ×
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 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 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 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 CTD_human