PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Bull's eye macular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0339512
Disease:
Bull's eye macular dystrophy 		0.800 GeneticVariation UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0339512
Disease:
Bull's eye macular dystrophy 		A 0.800 CausalMutation CLINVAR