Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. 24051377

2013

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082

2011

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. 17898177

2007