ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Disease: Photoreceptor degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. 29293603 2018
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE Thus, the precise molecular mechanism by which ELOVL4 mutation causes photoreceptor degeneration in mice and in human patients remains to be characterized. 26427404 2016
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 Biomarker disease BEFREE It is unclear whether photoreceptor degeneration in STGD3 is caused by loss of VLC-PUFAs or by mutated ELOVL4 protein trafficking/aggregation. 23479632 2013
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE Mice carrying an Elovl4 mutation developed photoreceptor degeneration and depletion of very long chain fatty acids (VLCFA). 20096366 2010
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.050 GeneticVariation disease BEFREE Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. 15749821 2005