×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens .
28764803
2017
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP ) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA ), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA).
25429852
2015
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1 .
23929416
2013
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Bothnia dystrophy is a variant of recessive retinitis punctata albescens (RPA) and is caused by a homozygous R234W mutation in the RLBP1 gene.
22171637
2012
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Mutations in RLBP1 were identified in 7 patients with RPA and in 1 patient with FAP and cone dystrophy.
22559933
2012
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
Biomarker
disease
BEFREE
In this study, mutations were sought in RLBP1 , which encodes the retinol binding protein CRALBP in patients with typical RPA .
17065479
2006
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens .
15953459
2005
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GermlineCausalMutation
disease
ORPHANET
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens .
15953459
2005
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1 ) associated with retinitis punctata albescens : evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
14718298
2004
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GermlineCausalMutation
disease
ORPHANET
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1 ) in a patient with retinitis punctata albescens .
15234312
2004
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1 ) in a patient with retinitis punctata albescens .
15234312
2004
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
These results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families.
11262646
2001
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression.
11453974
2001
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GermlineCausalMutation
disease
ORPHANET
The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens .
10102299
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
GeneticVariation
disease
BEFREE
The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens .
10102299
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.700
Biomarker
disease
CTD_human