Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 GeneticVariation BEFREE Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome. 31557488

2020

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 Biomarker BEFREE MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. 28323777

2017

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 GeneticVariation BEFREE All 10 sporadic periocular sebaceous carcinomas maintained strong staining of the 4 mismatch repair genes, while tumor from the patient with Muir-Torre syndrome showed loss of staining for the mismatch repair genes MSH2 and MSH6. 24321472

2014

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 GeneticVariation BEFREE MSH6 mutation in a family affected by Muir-Torre syndrome. 22814321

2012

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 GeneticVariation BEFREE Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. 18236172

2008

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 Biomarker BEFREE Evidence indicating microsatellite stability in three of 17 patients with a clinical history indicative of Muir-Torre syndrome and a mutation in only MSH-6 suggests that the phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations and further supports the use of immunohistochemistry as a screening tool in patients with Muir-Torre syndrome with an extended panel that includes MSH-6. 18065960

2008

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.570 GeneticVariation BEFREE An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. 17323113

2007