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: C0035333
Disease: Retinitis
Retinitis
0.020 GeneticVariation disease LHGDN Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
CUI: C0035333
Disease: Retinitis
Retinitis
0.020 GeneticVariation disease LHGDN 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