RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group BEFREE Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy. 17065479 2006
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 Biomarker group HPO