×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
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
0.730
GermlineCausalMutation
disease
ORPHANET
These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
21447491
2011
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
BEFREE
These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
21447491
2011
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
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
0.730
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
0.730
GeneticVariation
disease
UNIPROT
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 .
11453974
2001
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
BEFREE
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 .
11453974
2001
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
UNIPROT
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
10102299
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GermlineCausalMutation
disease
ORPHANET
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
10102299
1999
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
GeneticVariation
disease
UNIPROT
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
9326942
1997
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
HPO
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
CausalMutation
disease
CLINVAR
×
Entrez Id:
6017
Gene Symbol:
RLBP1
RLBP1
0.730
Biomarker
disease
CTD_human