ELOVL2, ELOVL fatty acid elongase 2, 54898

N. diseases: 26; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
0.100 GeneticVariation group GWASCAT A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. 25500335 2015
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.020 GeneticVariation disease BEFREE Among the eleven genotyped SNPs, the genetic variants in TM6SF2 rs58542926 (OR = 4.13, p = 0.002), GCKR rs1260326 (OR = 1.53, p = 0.003), PNPLA3 rs738409 (OR = 1.58, p = 0.004) and ELOVL2 rs2236212 (OR = 1.34, p = 0.047) were significantly associated with a higher risk of NAFLD. 31255630 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.300 Biomarker phenotype CTD_human ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice. 21106902 2011
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
0.300 Biomarker phenotype CTD_human ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice. 21106902 2011
CUI: C0917731
Disease: Male sterility
Male sterility
0.300 Biomarker phenotype CTD_human ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice. 21106902 2011
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
0.100 GeneticVariation phenotype GWASDB Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. 21829377 2011
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation disease BEFREE Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival. 30734280 2019
Adverse effects, not elsewhere classified
0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE In this issue of <i>Cancer Discovery</i>, Gimple and colleagues examine superenhancers in glioblastoma and glioma stem cells (GSC), identifying one which promotes expression of ELOVL2, an enzyme in polyunsaturated fatty acid (PUFA) synthesis. 31481405 2019
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
0.100 GeneticVariation phenotype GWASCAT Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. 22916037 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 Biomarker disease BEFREE Targeting ELOVL2 inhibited glioblastoma cell growth and tumor initiation. 31201181 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE Targeting ELOVL2 inhibited glioblastoma cell growth and tumor initiation. 31201181 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 Biomarker disease BEFREE Targeting ELOVL2 inhibited glioblastoma cell growth and tumor initiation. 31201181 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 Biomarker disease BEFREE Targeting ELOVL2 inhibited glioblastoma cell growth and tumor initiation. 31201181 2019
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
0.010 Biomarker phenotype BEFREE Targeting ELOVL2 inhibited glioblastoma cell growth and tumor initiation. 31201181 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.010 Biomarker disease BEFREE The purpose of this study is to analyze the relationship between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2), and elongation of very long-chain fatty acids-like 2 (ELOVL2) and acute coronary syndrome (ACS) in Chinese Han population. 23555103 2013
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 Biomarker disease BEFREE The purpose of this study is to analyze the relationship between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2), and elongation of very long-chain fatty acids-like 2 (ELOVL2) and acute coronary syndrome (ACS) in Chinese Han population. 23555103 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE The validation for the microarray was done by real time PCR assay in which PPP3CA, ATG-5, BACE genes showed down-regulation and ABCG2, RXRA, ELOVL2, CXR3 genes showed up-regulation. cDNA microarrays showed that among the major upregulated genes in HCC are sets. 23317196 2012
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.020 AlteredExpression disease BEFREE These findings indicate that neonatal testosterone treatment, but not estradiol, produces histological changes in female rat liver that mimic NAFLD with testosterone-treated rats showing impaired BCAA metabolism and dysfunctions in ELOVL2, SLC22A4 and SLC16A9 activity. 29030588 2017