Gene: NR2E3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease BEFREE Mutations in human NR2E3 are associated with several retinal degenerations including enhanced S cone syndrome and retinitis pigmentosa. 24498227 2014
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 Biomarker disease BEFREE Diseases that could be included in the EOCRDs are Leber congenital amaurosis, achromatopsia, congenital stationary night blindness, X-linked juvenile retinoschisis, Goldmann-Favre disease and other NR2E3-related disorders, and possibly some very early-onset forms of Stargardt disease and juvenile retinitis pigmentosa. 19825837 2010
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease BEFREE Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. 19933183 2010
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease BEFREE NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). 19718767 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 Biomarker disease BEFREE Our results demonstrate the involvement of NR2E3 in enhanced S-cone syndrome and retinitis pigmentosa phenotypes in our populations. 19273793 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease BEFREE In the present work, we describe two additional families affected by adRP that carry a heterozygous c.166G>A (p.G56R) mutation in the NR2E3 gene. 19006237 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease LHGDN Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 17564971 2007
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 GeneticVariation disease LHGDN The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. 17982421 2007
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.480 Biomarker disease HPO