Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.150 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019