Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 Biomarker disease BEFREE Our data suggest that CRISPR/Cas9-mediated NRL disruption in rods may be a promising treatment option for patients with retinitis pigmentosa. 28291770 2017
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE To suppress the negative effect of an NRL mutant, the suppression and replacement strategy seems to be the most suitable therapeutic approach capable of overcoming the mutational heterogeneity associated with NRL-linked adRP. 21981118 2012
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. 19933183 2010
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. 17335001 2007
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease LHGDN Our results support the notion that gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa while loss-of-function NRL mutations lead to autosomal recessive retinitis pigmentosa. 17335001 2007
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 12796249 2003
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 Biomarker disease CTD_human Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 12796249 2003
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 11879142 2002
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease BEFREE Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 11385710 2001
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 Biomarker disease CTD_human A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 10192380 1999
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 GeneticVariation disease CLINVAR
Entrez Id: 4901
Gene Symbol: NRL
NRL
0.670 Biomarker disease GENOMICS_ENGLAND