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Systemic Autoinflammatory Disease_Periodic Fever v1.32 | SIRT1 | Zornitza Stark Marked gene: SIRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v1.32 | SIRT1 | Zornitza Stark Gene: sirt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v1.32 | SIRT1 |
Zornitza Stark gene: SIRT1 was added gene: SIRT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIRT1 were set to 23473037 Phenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179, SIRT1-related Review for gene: SIRT1 was set to RED Added comment: PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis. Sources: Literature |