Activity

Filter

Cancel
Date Panel Item Activity
3 actions
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