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