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
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 CausalMutation disease CLINVAR An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 26702251 2016
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
0.600 GeneticVariation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.600 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 CausalMutation disease CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
0.600 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
0.600 CausalMutation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.600 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: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 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: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
0.600 Biomarker disease MGD Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. 19228982 2009
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.600 CausalMutation disease CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.600 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 CausalMutation disease CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
0.600 CausalMutation disease CLINVAR Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. 17605048 2008
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.600 CausalMutation disease CLINVAR An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 12657606 2003
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
0.600 CausalMutation disease CLINVAR An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 12657606 2003