PHF3, PHD finger protein 3, 23469

N. diseases: 12; N. variants: 28
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1349879153
rs1349879153
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE The mutations p.D2767Y and p.D3028Y described in this study affect highly conserved residues at homologous positions in laminin A G-like domains and support the notion that missense mutations in EYS can cause arRP. 21179430 2010