IFT80, intraflagellar transport 80, 57560

N. diseases: 109; N. variants: 10
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
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 GeneticVariation disease BEFREE IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 GermlineCausalMutation disease ORPHANET IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 CausalMutation disease CLINVAR
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 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: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.500 GermlineCausalMutation disease ORPHANET Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 19648123 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.500 Biomarker disease CTD_human IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.500 Biomarker disease GENOMICS_ENGLAND
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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.400 Biomarker phenotype CTD_human IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.400 Biomarker phenotype HPO
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		0.400 CausalMutation disease CLINVAR
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 GeneticVariation disease BEFREE We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS. 30767363 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 GeneticVariation disease BEFREE We studied the case of a female child with a novel ciliopathy phenotype and identified two novel mutations in the gene IFT80. 29923190 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND