PHF3, PHD finger protein 3, 23469

N. diseases: 12; N. variants: 28
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236076
rs527236076
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation BEFREE One novel (c.7492G>C:p.Ala2498Pro and c.8422C>T:p.Ala2808Thr) and one reported (c.8012T>A:p.Leu2671X and 6416G>A:p.Cys2139Tyr) pair of compound heterozygous mutations, as well as one reported compound homozygous mutation (c.6416G>A:p.Cys2139Tyr/c.8012T>A:p.Leu2671X), were identified in the <i>EYS</i> gene from three families with autosomal recessive RP. 30804660 2019
dbSNP: rs527236076
rs527236076
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.710 GeneticVariation CLINVAR