IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
Disease: Short rib-polydactyly syndrome, Beemer type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		0.400 GermlineCausalMutation disease ORPHANET We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. 30767363 2019
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		0.400 CausalMutation disease CLINVAR