IFT57, intraflagellar transport 57, 55081

N. diseases: 31; N. variants: 1
Disease: Orofaciodigital Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.010 Biomarker disease BEFREE This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS, extending the genetic heterogeneity of this subgroup of ciliopathies. 27060890 2016