IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 Biomarker disease MGD An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. 21227999 2011
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 GermlineCausalMutation disease ORPHANET Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 19648123 2011