MSH6, mutS homolog 6, 2956

N. diseases: 29; N. variants: 619
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 		0.570 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 		0.570 GermlineCausalMutation disease ORPHANET Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. 22734033 2012
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.570 Biomarker disease GENOMICS_ENGLAND
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.570 Biomarker disease GENOMICS_ENGLAND