Gene: PHF3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414 2015
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. 26161267 2015
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. 20375346 2010
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908 2010
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. 20537394 2010
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 GeneticVariation disease CLINVAR Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725 2008
Entrez Id: 23469
Gene Symbol: PHF3
PHF3 		0.100 CausalMutation disease CLINVAR