| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | GeneticVariation | disease | BEFREE | Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome. | 31557488 | 2020 | ||||
|
0.570 | Biomarker | disease | BEFREE | MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. | 28323777 | 2017 | ||||
|
0.570 | GermlineCausalMutation | disease | ORPHANET | Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. | 25006859 | 2014 | ||||
|
0.570 | GeneticVariation | disease | 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 | ||||
|
0.570 | GermlineCausalMutation | disease | ORPHANET | Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome. | 22734033 | 2012 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | MSH6 mutation in a family affected by Muir-Torre syndrome. | 22814321 | 2012 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation. | 18236172 | 2008 | ||||
|
0.570 | Biomarker | disease | 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 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. | 17323113 | 2007 | ||||
|
0.570 | Biomarker | disease | GENOMICS_ENGLAND |