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: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 Biomarker disease MGD Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. 19228982 2009
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 CausalMutation disease CLINVAR
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 Biomarker disease CTD_human
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 GeneticVariation disease CLINVAR
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 CausalMutation disease CLINVAR
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease BEFREE Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. 29416601 2018
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease UNIPROT 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 		0.720 Biomarker disease CTD_human
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease BEFREE Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). 28437526 2017
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 Biomarker disease GENOMICS_ENGLAND
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
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 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
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 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) 		0.700 GeneticVariation disease CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND