Disease: MACULAR DEGENERATION, EARLY-ONSET ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MACULAR DEGENERATION, EARLY-ONSET
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
0.020 GeneticVariation BEFREE We introduced to these cells the p.R345W mutation in EFEMP1, which causes early-onset macular degeneration. 29095988 2018
MACULAR DEGENERATION, EARLY-ONSET
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
0.020 GeneticVariation BEFREE We investigated the pathogenicity of this mutation in families with early-onset macular degeneration and by generating Efemp1-R345W knockin mice. 17666404 2007