RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Disease: Newfoundland Rod-Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843815
Disease: Newfoundland Rod-Cone Dystrophy
Newfoundland Rod-Cone Dystrophy 		0.510 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: C1843815
Disease: Newfoundland Rod-Cone Dystrophy
Newfoundland Rod-Cone Dystrophy 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C1843815
Disease: Newfoundland Rod-Cone Dystrophy
Newfoundland Rod-Cone Dystrophy 		0.510 Biomarker disease CTD_human