RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Disease: Retinitis punctata albescens (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GeneticVariation disease BEFREE Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		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
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GeneticVariation disease BEFREE The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression. 11453974 2001
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GermlineCausalMutation disease ORPHANET The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens. 10102299 1999
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 GeneticVariation disease BEFREE The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens. 10102299 1999
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.700 Biomarker disease CTD_human