PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
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 		0.310 GeneticVariation phenotype BEFREE This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease. 28095140 2017
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.310 GermlineCausalMutation phenotype ORPHANET Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008