NRL, neural retina leucine zipper, 4901

N. diseases: 61; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894463
rs104894463
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834330
Disease:
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1173385399
rs1173385399
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT
dbSNP: rs149921817
rs149921817
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT
dbSNP: rs1566560531
rs1566560531
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1566561006
rs1566561006
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs199691910
rs199691910
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT
dbSNP: rs527236087
rs527236087
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs753706965
rs753706965
Entrez Id: 4901;5106
Gene Symbol: NRL;PCK2
NRL;PCK2
CUI: C1849821
Disease:
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 		T 0.700 CausalMutation CLINVAR
dbSNP: rs762991211
rs762991211
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs763191889
rs763191889
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834330
Disease:
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs794727281
rs794727281
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 10192380 1999
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 10192380 1999
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 10192380 1999
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.020 GeneticVariation BEFREE HphI restriction analysis followed by direct sequencing of the amplified NRL exon 2 product demonstrated the presence of the NRL S50T sequence change in three adRP families. 11039579 2000
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0854723
Disease:
Retinal Dystrophies 		0.010 GeneticVariation BEFREE The NRL S50T mutation represents another example of a 'founder effect' in a dominantly inherited retinal dystrophy. 11039579 2000
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 11385710 2001
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 11385710 2001
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 11385710 2001
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa.Hum Mutat 17:520, 2001. 11385710 2001
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 11879142 2002
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.800 GeneticVariation UNIPROT Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 11879142 2002
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 11879142 2002