PHF3, PHD finger protein 3, 23469

N. diseases: 12; N. variants: 28
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853190
rs137853190
Entrez Id: 23469;346007
Gene Symbol: PHF3;EYS
PHF3;EYS
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE An isolated CRD patient carried a homozygous EYS variant (c.9405T>A), previously identified in RP patients. 31074760 2019