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: 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: C0869220
Disease: Adverse effects, not elsewhere classified
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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 Biomarker disease BEFREE They find that ELOVL2 products help maintain cell membrane organization and EGFR signaling in GSCs, and that targeting PUFA metabolism along with EGFR offers a potential novel therapeutic strategy for glioblastoma.<i>See related article by Gimple et al., p. 1248</i>. 31481405 2019
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 They find that ELOVL2 products help maintain cell membrane organization and EGFR signaling in GSCs, and that targeting PUFA metabolism along with EGFR offers a potential novel therapeutic strategy for glioblastoma.<i>See related article by Gimple et al., p. 1248</i>. 31481405 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 Biomarker disease BEFREE They find that ELOVL2 products help maintain cell membrane organization and EGFR signaling in GSCs, and that targeting PUFA metabolism along with EGFR offers a potential novel therapeutic strategy for glioblastoma.<i>See related article by Gimple et al., p. 1248</i>. 31481405 2019
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: 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 Biomarker disease BEFREE They find that ELOVL2 products help maintain cell membrane organization and EGFR signaling in GSCs, and that targeting PUFA metabolism along with EGFR offers a potential novel therapeutic strategy for glioblastoma.<i>See related article by Gimple et al., p. 1248</i>. 31481405 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: 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: C0025202
Disease: melanoma
melanoma 		0.010 GeneticVariation disease BEFREE Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival. 30734280 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation disease BEFREE Variation in ELOVL2, ELOVL4 and ELOVL5 was not associated with adipose tissue fatty acids, intermediate cardiovascular risk factors or MI. 22293571 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 Biomarker disease BEFREE With the use of the log-rank test, univariate Cox regression analyses, and the Kaplan-Meier method, DNA methylation patterns of UBAC2 and ELOVL2, highly correlated with CIN, provided potential prognostic values for PTC. 31698312 2019
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: 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE These findings provide evidence of an association between FADS2 and ELOVL2 polymorphisms and ASD susceptibility in Chinese children. 30180836 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE To investigate the association 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) gene and coronary artery disease (CAD) in a Chinese Han population. 21917437 2011
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: 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