PHF3, PHD finger protein 3, 23469

N. diseases: 12; N. variants: 28
Disease: Retinitis Pigmentosa 25 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764229134
rs764229134
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C1864446
Disease:
Retinitis Pigmentosa 25 		A 0.700 GeneticVariation CLINVAR Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. 20375346 2010