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: rs528919874
rs528919874
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C1864446
Disease:
Retinitis Pigmentosa 25 		T 0.700 GeneticVariation CLINVAR Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. 20537394 2010
dbSNP: rs528919874
rs528919874
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C1864446
Disease:
Retinitis Pigmentosa 25 		T 0.700 CausalMutation CLINVAR