Gene: EFEMP1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.870 GeneticVariation UNIPROT The inherited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be caused by an R345W mutation in the EFEMP1 gene (also called fibulin-3). 17666404

2007
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.870 GeneticVariation UNIPROT Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. 12242346

2002
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.870 GeneticVariation UNIPROT Dominant radial drusen and Arg345Trp EFEMP1 mutation. 11384588

2001
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.870 GeneticVariation UNIPROT A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 10369267

1999