IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016