Disease: Dominant drusen ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dominant drusen
CUI: C0339513
Disease: Dominant drusen
0.030 GeneticVariation BEFREE Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1). 23036572 2013
Dominant drusen
CUI: C0339513
Disease: Dominant drusen
0.030 GeneticVariation BEFREE A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. 19850834 2010
Dominant drusen
CUI: C0339513
Disease: Dominant drusen
0.030 GeneticVariation BEFREE The Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen. 11384588 2001