PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). 28437526 2017
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 28840994 2017
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE This study described three cases in which variations in PROM1 gene may play a role in the pathogenesis of macular dystrophy or be associated with both autosomal recessive and autosomal dominant inheritance. 28095140 2017
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE Autosomal dominant Stargardt-like macular dystrophy is a rare juvenile macular dystrophy most commonly because of mutations in ELOVL4 and PROM1 genes. 26110599 2016
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. 20859302 2011
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.160 GeneticVariation disease BEFREE The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116 2010