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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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