IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 GeneticVariation disease BEFREE We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. 24009529 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 GermlineCausalMutation disease ORPHANET We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. 24009529 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 Biomarker disease MGD Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. 23469164 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 GermlineCausalMutation disease ORPHANET Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 23418020 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 Biomarker disease MGD We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. 24009529 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 GeneticVariation disease BEFREE Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. 22503633 2012
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 GermlineCausalMutation disease ORPHANET Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. 22503633 2012
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 Biomarker disease GENOMICS_ENGLAND Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. 22503633 2012
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.820 CausalMutation disease CLINVAR