IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Disease: Short Rib-Polydactyly Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.410 GeneticVariation disease BEFREE The data identify a new locus for SRPS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton. 27466190 2016
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.410 Biomarker disease CTD_human
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.410 GeneticVariation disease CLINVAR