| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | GeneticVariation | disease | UNIPROT | Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease. | 24069298 | 2013 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. | 19006237 | 2009 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. | 18294254 | 2008 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present. | 16225923 | 2005 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer. | 15459973 | 2004 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene. | 12963616 | 2003 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor. | 10655056 | 2000 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | 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 |