Source: MGD

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: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		disease 0.910 None 1.000 3 0 2006 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		disease 0.800 None 1.000 3 0 2006 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		disease 0.210 None 1.000 0 0 2015 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 3 0 2007 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		disease 0.200 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		disease 0.200 None 0 0