ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Disease: Unspecified visual loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.020 GeneticVariation phenotype BEFREE Impaired phagolysosomal maturation is observed in RPE of mice expressing human mutant ELOVL4 in their photoreceptors prior to photoreceptor death and associated vision loss. 29654292 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.020 GeneticVariation phenotype BEFREE While ELOVL4 mutations are linked to vision loss and neuronal dysfunctions, the roles of VLC-PUFAs remain unknown. 28706274 2017