PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 Biomarker disease CTD_human
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 CausalMutation disease CLINVAR
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 GermlineCausalMutation disease ORPHANET The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116 2010