PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: 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: C0730292
Disease:
Macular dystrophy 		A 0.720 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0730292
Disease:
Macular dystrophy 		0.720 GeneticVariation BEFREE Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 28840994 2017
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0730292
Disease:
Macular dystrophy 		0.720 GeneticVariation BEFREE The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116 2010