SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases
0.010 Biomarker group BEFREE Furthermore, the ANT group had worse myelopathy scores (mJOAS<sub>ANT group</sub> = 13.5 ± 2.5, mJOAS<sub>A/P group</sub> = 15.7 ± 2.2). 29916066 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 AlteredExpression disease BEFREE Expression of SLC25A1-SLC25A4 interactome components was affected in neuronal cells from schizophrenia patients. 30833507 2019
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases
0.010 Biomarker group BEFREE Furthermore, the ANT group had worse myelopathy scores (mJOAS<sub>ANT group</sub> = 13.5 ± 2.5, mJOAS<sub>A/P group</sub> = 15.7 ± 2.2). 29916066 2019
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas
0.010 AlteredExpression disease BEFREE ABBREVIATIONS AED = antiepileptic drug; ANT = anterior nucleus of the thalamus; BOLD = blood oxygen level dependent; CCEP = cortico-cortical evoked potential; DBS = deep brain stimulation; ECoG = electrocorticography; ERSET = Early Randomized Surgical Epilepsy Trial; FCD = focal cortical dysplasia; HH = hypothalamic hamartoma; LITT = laser interstitial thermal therapy; RCT = randomized controlled trial; r-fMRI = resting-state functional MRI; RNS = responsive neurostimulation; SEEG = stereo-electroencephalography; VNS = vagus nerve stimulation. 30970205 2019
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.010 Biomarker disease BEFREE One clinical isolate (BE/ANT-A11/17) replicated very efficiently in all cell lines, and remarkably, even better than RSV A2 in the HEp-2 cell line. 31698728 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.010 GeneticVariation disease BEFREE This is the first study in which favorable outcomes of ANT-DBS surgery were observed in individual patients with refractory epilepsy who had not responded to prior VNS. 31533117 2019
CUI: C0003537
Disease: Aphasia
Aphasia
0.010 GeneticVariation disease BEFREE The primary outcome measures for changes in language performance were the Western Aphasia Battery's aphasia quotient AQ; the secondary outcome measures were the Boston naming test (BNT) and the Action naming test (Action BNT, ANT).All subjects completed the study. 30778280 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 Biomarker disease BEFREE Cognitive outcomes were tested by composite scores measuring change in performance on standard tests (Brief International Cognitive Assessment in MS or BICAMS), basic attention (ANT-I Orienting and Attention Networks, Cogstate Detection), complex attention (ANT-I Executive Network, Cogstate Identification and One-Back), and intra-individual response variability (ANT-I and Cogstate identification; sensitive markers of disease status). 28225155 2018
CUI: C0041834
Disease: Erythema
Erythema
0.010 Biomarker phenotype BEFREE A higher concentration of the ANT1 cream significantly reduces wrinkles and redness after laser. 29369914 2018
CUI: C0795692
Disease: Hyperlactatemia
Hyperlactatemia
0.010 GeneticVariation disease BEFREE The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular analysis in adults with exercise intolerance associated with hyperlactatemia. 28823815 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.010 Biomarker disease BEFREE SCA type 6 showed lower metabolic ratios in almost all cerebellar subregions (ANT, 0.57 ± 0.06, p < 0.001) except INFV. 28319124 2017
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 Biomarker group BEFREE Hence, increased oxidation of dietary-reducing equivalents by elevated muscle mitochondrial respiration appears to be the mechanism by which ANT1-deficient mice prevent diabetes, demonstrating that the rate of mitochondrial oxidation of calories is important in the etiology of metabolic disease. 28223503 2017
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.010 Biomarker group BEFREE A somatostatin receptor (SSTR)-targeting antagonist peptide (sst<sub>2</sub>-ANT) was radiolabeled with <sup>99m</sup>Tc tricarbonyl via a tridentate [N,S,N]-type ligand (L) to develop a radiodiagnostic agent, <sup>99m</sup>TcL-sst<sub>2</sub>-ANT, for imaging of SSTR-expressing neuroendocrine tumors. 28043006 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE We reported that a 20-22 kDa NH2-tau fragment mapping between 26 and 230 amino acids of the longest human tau isoform (aka NH2htau): (i) is detectable in cellular and animal AD models, as well in synaptic mitochondria and cerebrospinal fluids (CSF) from human AD subjects; (ii) is neurotoxic in primary hippocampal neurons; (iii) compromises the mitochondrial biology both directly, by inhibiting the ANT-1-dependent ADP/ATP exchange, and indirectly, by impairing their selective autophagic clearance (mitophagy). 25687137 2015
CUI: C2718001
Disease: Protein Misfolding Disorders
Protein Misfolding Disorders
0.010 Biomarker disease BEFREE The data suggest that the Ant1-induced diseases belong to protein misfolding disorders. 25833713 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 GeneticVariation disease BEFREE There were no differences between the two at-risk groups (i.e., youth with BD parent vs. youth with MDD parent) on any ANT-S measure. 22980403 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Also, miRNA expression profiles of the BC and their corresponding ANT were evaluated. 22524830 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Also, miRNA expression profiles of the BC and their corresponding ANT were evaluated. 22524830 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.010 Biomarker group BEFREE Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. 21301859 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Unlike the ANT1 and ANT3 isoforms, ANT2 is not pro-apoptotic and may therefore contribute to carcinogenesis. 20950584 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.010 Biomarker disease BEFREE As both ANT1 mutations and overexpression have been associated with human diseases, we consider it highly relevant to address the consequences of ANT1 deregulation in Rett syndrome. 20504995 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Our results suggest that ANT1 transfection may be a useful therapeutic modality for the treatment of cancer. 18522758 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Our results suggest that ANT1 transfection may be a useful therapeutic modality for the treatment of cancer. 18522758 2008
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
0.010 Biomarker disease BEFREE Recently, the dominant negative pathogenic mechanism in the TG model was shown to involve increased affinity of the truncated mutant HRG4 for its target, ARL2, which leads to a delayed decrease in its downstream target, mitochondrial ANT1, mitochondrial stress, synaptic degeneration, trans-synaptic degeneration, and whole photoreceptor degeneration by apoptosis. 17174953 2007
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker disease BEFREE The altered isoform expression in DCM hearts entails changes in the kinetic properties of total ANT protein restricting ANT function and contributing to disturbed energy metabolism in DCM. 16107323 2006