IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 Biomarker disease GENOMICS_ENGLAND Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. 31042281 2019
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 Biomarker disease GENOMICS_ENGLAND IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. 30242358 2018
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 GeneticVariation disease UNIPROT IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 27466190 2016
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 GeneticVariation disease UNIPROT A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 Biomarker disease GENOMICS_ENGLAND A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 26880018 2016
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 		0.500 Biomarker disease GENOMICS_ENGLAND