rs121434491, EFEMP1;LOC112268416
N. diseases: 15
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | The studies were done using a mouse model of the inherited macular dystrophy Doyne Honeycomb Retinal Dystrophy/Malattia Leventinese (DHRD/ML) which is caused by a p.Arg345Trp mutation in EFEMP1. | 23943789 | 2014 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | The R345W mutation in EFEMP1 caused Malattia leventinese/Doyne honeycomb retinal dystrophy in a Chinese family. | 25111685 | 2014 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice. | 20206286 | 2010 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | 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 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
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 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. | 15218514 | 2005 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | UNIPROT | Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. | 12242346 | 2002 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration. | 12427233 | 2002 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | BEFREE | At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and are now thought to represent a single entity. | 11262647 | 2001 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | UNIPROT | Dominant radial drusen and Arg345Trp EFEMP1 mutation. | 11384588 | 2001 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | GeneticVariation | UNIPROT | A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. | 10369267 | 1999 | |||||
DOYNE HONEYCOMB RETINAL DYSTROPHY
|
0.870 | CausalMutation | CLINVAR |