PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Disease: Retinal Diseases ×
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: C0035309
Disease:
Retinal Diseases 		0.010 GeneticVariation BEFREE The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction. 20393116 2010