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: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.820 strong 1.000 3 0 2012 2013
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.700 strong 1.000 2 0 2011 2014
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.670 strong 1.000 2 0 2009 2018
Entrez Id: 89891
Gene Symbol: WDR34
WDR34 		WD repeat domain 34 0.597 0.692 1.7E-07
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.620 strong 1.000 1 0 2013 2013
Entrez Id: 55112
Gene Symbol: WDR60
WDR60 		WD repeat domain 60 0.592 0.654 4.3E-12
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.620 strong 1.000 1 0 2013 2018
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.610 strong 1.000 2 0 2011 2014
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.610 strong 1.000 1 0 2007 2007
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.520 strong 1.000 1 0 2015 2018
Entrez Id: 26160
Gene Symbol: IFT172
IFT172 		intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.500 strong 1.000 1 0 2013 2013
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		disease 0.300 None 1.000 1 0 2015 2015