Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy
0.030 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: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy
0.030 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: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy
0.030 GeneticVariation disease BEFREE Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974 2001