Source: CURATED

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 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 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 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 CTD_human