WDR1, WD repeat domain 1, 9948

N. diseases: 59; N. variants: 41
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.310 GeneticVariation phenotype BEFREE In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopenia. 27994071 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.310 Biomarker phenotype CTD_human Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. 17515402 2007