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: 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 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 A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 10205271 1999
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 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