rs137853006, PROM1

N. diseases: 11
Disease: Macular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.720 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Macular dystrophy
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
Macular dystrophy
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