WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Congenital ocular coloboma (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation disease BEFREE Patient 3 with a compound heterozygous WDR35 mutation had ocular coloboma and intellectual disability. 26968886 2017