WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.120 GeneticVariation disease BEFREE Mutations in WDR35 were identified recently in a sub-group of patients with Sensenbrenner syndrome and in a single family that presented with an unclassified form of short-rib polydactyly (SRP) syndrome. 22987818 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.120 GeneticVariation disease BEFREE We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. 21473986 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.120 Biomarker disease HPO