ELOVL1, ELOVL fatty acid elongase 1, 64834

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.100 Biomarker disease HPO
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
0.100 Biomarker phenotype HPO
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 Biomarker disease BEFREE In this study, we investigated the kinetic characteristics of ELOVL1 using X-ALD fibroblasts and microsomal fractions from ELOVL1 over-expressing HEK293 cell lines and analyzed the inhibition kinetics of a series of fibrates. 25499606 2015
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 AlteredExpression disease BEFREE Given the likely pathogenic effects of high C26:0 levels, our findings highlight the potential of modulating ELOVL1 activity in the treatment of X-ALD. 20166112 2010
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.030 Biomarker disease BEFREE Furthermore, we pay special attention to the role of the VLCFA elongation system in VLCFA homeostasis, with elongation of very long-chain fatty acids like-1 (ELOVL1) as key player, and its relevance to X-ALD. 20626744 2010
CUI: C0011603
Disease: Dermatitis
Dermatitis
0.010 Biomarker disease BEFREE The mRNA expression of ELOVL1 and ELOVL4 significantly decreased in AD-like dermatitis, whereas ELOVL1 increased in psoriasis-like dermatitis. 30838224 2019
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
0.010 Biomarker disease BEFREE Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice. 29401594 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 Biomarker disease BEFREE Clozapine caused robust reductions in hepatic ceramide and sphingolipid levels (p < 0.0001), upregulated CerS2 (p < 0.05) and ELOVL1 (+ 37%) and induced significant hyperglycemia (vs controls). 29720183 2018
CUI: C0314719
Disease: Dryness of eye
Dryness of eye
0.010 Biomarker phenotype BEFREE Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice. 29401594 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Furthermore, the TN tumors exhibited stronger ELOVL1 and 6 staining than the EP+H- tumors. 28851309 2017
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy
0.010 Biomarker disease BEFREE This study indicates that miR-196a participated in differential regulation of ELOVL1 and inflammatory response between cALD as compared to AMN and may be a possible biomarker to differentiate between cALD and AMN. 26843114 2017
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 Biomarker disease BEFREE Marked differences in fatty acid metabolism pathways, including those related to ELOVL1 and 6, were detected between TN and EP+H-, and it was suggested that ELOVL1 and 6-related fatty acid metabolism pathways may be targets for therapies against TN. 28851309 2017
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 Biomarker disease BEFREE Marked differences in fatty acid metabolism pathways, including those related to ELOVL1 and 6, were detected between TN and EP+H-, and it was suggested that ELOVL1 and 6-related fatty acid metabolism pathways may be targets for therapies against TN. 28851309 2017
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
0.010 AlteredExpression disease BEFREE ABCD1 protein deficiency impairs peroxisomal very long-chain fatty acid (VLCFA) degradation resulting in increased cytosolic VLCFA-CoA levels, which are further elongated by the VLCFA-specific elongase, ELOVL1. 25499606 2015