Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
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
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.700 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.700 Biomarker disease CTD_human
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.700 CausalMutation disease CLINVAR