rs137853006, PROM1

N. diseases: 11
Disease: Hereditary macular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
0.020 GeneticVariation BEFREE Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 28840994 2017
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
0.020 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