IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Disease: CRANIOECTODERMAL DYSPLASIA 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.310 GeneticVariation disease BEFREE In parallel, we demonstrated that the previously reported homozygous nonsense IFT52 mutation associated with Sensenbrenner syndrome [Girisha et al. 31042281 2019
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.310 GermlineCausalMutation disease ORPHANET A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.310 GermlineCausalMutation disease ORPHANET IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 27466190 2016