Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.910 Biomarker MGD DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. 26301811

2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.910 Biomarker MGD Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. 24946806

2014
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		0.910 Biomarker MGD Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011