Disease: Goldmann-Favre syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237 2017
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Identifying mutations in Tunisian families with retinal dystrophy. 27874104 2016
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Macular cystoid spaces in patients with retinal dystrophy. 26894784 2016
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 26355662 2016
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GeneticVariation disease BEFREE A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina. 24891813 2014
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GeneticVariation disease BEFREE Thirty-two different mutations in NR2E3 have been identified in either homozygous or compound heterozygous state in the recessively inherited enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD). 19718767 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. 19823680 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GeneticVariation disease BEFREE To define the retinal pathology in an 88-year-old male affected with Goldmann-Favre syndrome with a 2 bp 5' A>C splice site mutation in the NR2E3 gene. 19852574 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Phenotypic features of patients with NR2E3 mutations. 19139342 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. 18835469 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GeneticVariation disease BEFREE Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome. 19139342 2009
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 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: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. 16024868 2005
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GeneticVariation disease BEFREE The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene. 12963616 2003
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 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: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 GermlineCausalMutation disease ORPHANET Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 CausalMutation disease CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		0.650 Biomarker disease CTD_human