Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
1.000 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

Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
1.000 GeneticVariation UNIPROT Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. 12242346

2002

Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
1.000 GeneticVariation UNIPROT Dominant radial drusen and Arg345Trp EFEMP1 mutation. 11384588

2001

Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
1.000 GeneticVariation UNIPROT A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 10369267

1999