rs1173385399
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs149921817
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1566560531
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1566561006
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199691910
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs527236087
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
Retinitis Pigmentosa
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs753706965
|
Entrez Id: |
4901;5106 |
Gene Symbol: |
NRL;PCK2 |
NRL;PCK2
|
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs762991211
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
Enhanced S-Cone Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs763191889
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794727281
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
|
21981118 |
2012 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
|
21981118 |
2012 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
|
17335001 |
2007 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
|
17335001 |
2007 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
|
15994872 |
2005 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
|
15994872 |
2005 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
|
15591106 |
2004 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
|
15591106 |
2004 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
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 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
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 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
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 |
rs397514516
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
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 |
rs104894459
|
Entrez Id: |
4901 |
Gene Symbol: |
NRL |
NRL
|
RETINITIS PIGMENTOSA 27
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
|
10192380 |
1999 |