IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Mainzer-Saldino Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker disease BEFREE Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS). 28724397 2017
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease CLINVAR Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS). 28724397 2017
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease UNIPROT The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 28288023 2017
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease UNIPROT Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS). 28724397 2017
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 CausalMutation disease CLINVAR Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056 2015
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease BEFREE Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. 24698627 2014
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease CLINVAR Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. 23418020 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease UNIPROT Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. 23418020 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease UNIPROT Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. 24009529 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease BEFREE Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. 23418020 2013
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker disease GENOMICS_ENGLAND Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633 2012
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker disease GENOMICS_ENGLAND Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633 2012
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease UNIPROT Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633 2012
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GeneticVariation disease CLINVAR Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633 2012
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 GermlineCausalMutation disease ORPHANET Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 22503633 2012
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker disease MGD
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker disease GENOMICS_ENGLAND