IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113 2013
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease CLINVAR
CUI: C3810175
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND