Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.010 GeneticVariation phenotype BEFREE The molecular findings for RHO and C2orf71 confirmed the initial diagnosis of adRP and arRP, respectively, while patients with the two ABCA4 mutations, both previously associated with Stargardt disease, presented symptoms of RP with early macular involvement. 25544989 2014