Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		disease 0.930 None 1.000 1 0 2012 2017
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.820 strong 1.000 3 0 2012 2013
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.420 None 1.000 1 0 2015 2016
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.300 None 1.000 1 0 2015 2015