| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | Mutations in ELOVL4 have been reported in families with macular degeneration. | 24566826 | 2014 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Mutations in the elongation of very long chain fatty acids 4 (ELOVL4) gene cause human Stargardt's macular dystrophy 3 (STGD3), a juvenile onset dominant form of macular degeneration. | 24644051 | 2014 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. | 22100072 | 2011 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Protein truncation mutations in ELOVL4 have been identified in patients with autosomal dominant Stargardt-like macular degeneration. | 16036915 | 2005 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. | 15749821 | 2005 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Further analysis of the function of normal and mutant ELOVL4 will provide insight into the mechanism of macular degeneration. | 15557430 | 2004 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Two distinct mutations, a 5-bp deletion and a complex mutation from the same region in exon 6 of this gene, have been reported so far and are associated with autosomal dominant atrophic macular degeneration (adMD/STGD3). | 15028284 | 2004 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations. | 12592226 | 2003 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Mutations in a photoreceptor cell-specific factor involved in the elongation of very long chain fatty acids (ELOVL(4)) were shown to be associated with STGD(3), adMD, and pattern dystrophy. | 11803489 | 2001 |