WDR1, WD repeat domain 1, 9948

N. diseases: 59; N. variants: 41
Disease: Autoinflammatory Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.010 GeneticVariation disease BEFREE Biallelic WDR1 mutations have been identified recently in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells. 29751004 2018