RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.810 GeneticVariation BEFREE Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.810 GeneticVariation UNIPROT Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.810 GeneticVariation UNIPROT Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299 1999
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.810 GeneticVariation UNIPROT Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 9326942 1997
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		T 0.810 CausalMutation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1843816
Disease:
Bothnia Retinal Dystrophy 		0.800 GeneticVariation UNIPROT Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 10102298 1999
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1843816
Disease:
Bothnia Retinal Dystrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		0.710 GeneticVariation 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
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		0.710 GeneticVariation BEFREE The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression. 11453974 2001
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		T 0.710 CausalMutation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		A 0.710 CausalMutation CLINVAR
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.700 GeneticVariation UNIPROT Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299 1999
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.700 GeneticVariation UNIPROT Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299 1999
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0311338
Disease:
Fundus Albipunctatus 		0.700 GeneticVariation UNIPROT Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 9326942 1997
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1379405913
rs1379405913
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567124404
rs1567124404
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1567124404
rs1567124404
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205626
rs786205626
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786205626
rs786205626
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1843816
Disease:
Bothnia Retinal Dystrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation BEFREE The high frequency of arRP in northern Sweden is due to two mutations in the RLBP1 gene: c.677T>A and c.700C>T. 18344446 2008
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation BEFREE Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. 11176989 2001
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE The high frequency of arRP in northern Sweden is due to two mutations in the RLBP1 gene: c.677T>A and c.700C>T. 18344446 2008