ELOVL4, ELOVL fatty acid elongase 4, 6785

N. diseases: 111; N. variants: 15
Disease: Erythrokeratodermia with ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777598
rs587777598
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
CUI: C1851481
Disease:
Erythrokeratodermia with ataxia 		0.810 GeneticVariation BEFREE Although a missense mutation in ELOVL4 (c.504G>C, p.L168F) was recently reported to be associated with SCA with erythrokeratodermia variabilis (SCA34) in a French-Canadian family, signs of erythrokeratodermia variabilis were absent in our families. 26010696 2015
dbSNP: rs587777598
rs587777598
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
CUI: C1851481
Disease:
Erythrokeratodermia with ataxia 		0.810 GeneticVariation UNIPROT Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. 24566826 2014
dbSNP: rs587777598
rs587777598
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
CUI: C1851481
Disease:
Erythrokeratodermia with ataxia 		G 0.810 CausalMutation CLINVAR