ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Disease: Cerebral dysfunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		0.010 GeneticVariation disease BEFREE Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long-chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction. 23509295 2013