RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease MGD Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. 11301032 2001
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GeneticVariation disease UNIPROT Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 10102298 1999
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GermlineCausalMutation disease ORPHANET Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 10102298 1999
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GeneticVariation disease CLINVAR
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease CTD_human
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 CausalMutation disease CLINVAR
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 GermlineCausalMutation disease ORPHANET Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 GeneticVariation disease UNIPROT Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 GeneticVariation disease BEFREE Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		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
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 GeneticVariation disease UNIPROT Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 9326942 1997
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 Biomarker disease HPO
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 CausalMutation disease CLINVAR
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.730 Biomarker disease CTD_human
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GeneticVariation disease BEFREE A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. 28764803 2017
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GeneticVariation disease BEFREE Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. 23929416 2013