Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.820 GermlineCausalMutation ORPHANET We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. 24009529

2013
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.820 GermlineCausalMutation ORPHANET Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 23418020

2013
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.820 GermlineCausalMutation 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