IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
Disease: Asphyxiating Thoracic Dystrophy 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 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: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 19610081 2009
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 GeneticVariation disease CLINVAR Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 19610081 2009
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 GeneticVariation disease CLINVAR IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 GeneticVariation disease UNIPROT IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 Biomarker disease GENOMICS_ENGLAND IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 Biomarker disease CTD_human
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		0.900 CausalMutation disease CLINVAR