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: 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: 153241
Gene Symbol: CEP120
CEP120 		centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease 0.500 strong 1.000 1 0 2016 2016
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.330 None 1.000 1 0 2016 2019
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		disease 0.300 None 1.000 1 0 2016 2016