PROM1, prominin 1, 8842

N. diseases: 306; N. variants: 20
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 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 CausalMutation disease CLINVAR The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116 2010
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 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 12657606 2003
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
0.700 CausalMutation disease CLINVAR A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 10205271 1999
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 GermlineCausalMutation disease ORPHANET