Disease: RETINITIS PIGMENTOSA 37 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298 2013
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. 17438525 2007
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease UNIPROT Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 17564971 2007
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 15689355 2005
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616 2003
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. 11773633 2002
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 GeneticVariation disease CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 CausalMutation disease CLINVAR The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 11071390 2000
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND