Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9948
Gene Symbol: WDR1
WDR1
0.010 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