Disease: Stargardt's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 Biomarker phenotype BEFREE Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration. 20552428 2010
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 Biomarker phenotype BEFREE Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity. 11379881 2001
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 GeneticVariation phenotype BEFREE Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease. 11804194 2001
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 GeneticVariation phenotype BEFREE Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding cassette (ABC) transporter, are responsible for autosomal recessive Stargardt disease (STGD), an early onset macular degeneration, and some forms of autosomal recessive cone-rod dystrophy and autosomal recessive retinitis pigmentosa. 11017087 2000
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 GeneticVariation phenotype BEFREE Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 9490294 1998
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 Biomarker phenotype BEFREE The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). 9202155 1997