ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Disease: Cerebellar atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692036
rs1131692036
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
CUI: C0740279
Disease:
Cerebellar atrophy 		0.010 GeneticVariation BEFREE Brain magnetic resonance imaging (MRI) of the patient and his father revealed marked pontine and cerebellar atrophy as well as the hot cross bun sign, that is common in cerebellar type of multiple system atrophy and was also described in SCA34 patients harboring two other mutations: p.L168F and p.W246G. 31105016 2019