SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 Biomarker disease BEFREE Echocardiography and ETT (modified Bruce) were performed at presentation in 316 patients with moderate or severe AS. 31813683 2020
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 AlteredExpression group BEFREE Our results thus show that LPS-induced inflammation could inhibit the expression and activity of OCTN1/2 <i>in vitro</i> and reduce the distribution of inhaled medicine in pulmonary diseases. 31591905 2020
CUI: C0027497
Disease: Nausea
Nausea
0.010 Biomarker phenotype BEFREE The incidence of nausea was lower in the LMA group than in the ETT group until postoperative day 1 (4/28 [14%] vs 12/28 [43%], P = .031, respectively). 31232934 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Placental site trophoblastic tumor [PSTT] and epithelioid trophoblastic tumor [ETT] are the rarest gestational trophoblastic neoplasias, developing from intermediate trophoblast of the implantation site and chorion leave, respectively. 31047719 2019
CUI: C0030193
Disease: Pain
Pain
0.010 GeneticVariation phenotype BEFREE The highest pain scores 1 hour postoperatively and on postoperative day 1 were lower in the LMA group than in the ETT group (3.9 [2.0] vs 5.4 [2.3], P = .017 and 5.6 [1.9] vs 6.7 [1.7], P = .042, respectively); requirements for analgesics were similar in the 2 groups. 31232934 2019
CUI: C0206666
Disease: Trophoblastic Tumor, Placental Site
Trophoblastic Tumor, Placental Site
0.010 Biomarker disease BEFREE Placental site trophoblastic tumor [PSTT] and epithelioid trophoblastic tumor [ETT] are the rarest gestational trophoblastic neoplasias, developing from intermediate trophoblast of the implantation site and chorion leave, respectively. 31047719 2019
CUI: C1266159
Disease: Trophoblastic tumor, epithelioid
Trophoblastic tumor, epithelioid
0.010 Biomarker disease BEFREE Placental site trophoblastic tumor [PSTT] and epithelioid trophoblastic tumor [ETT] are the rarest gestational trophoblastic neoplasias, developing from intermediate trophoblast of the implantation site and chorion leave, respectively. 31047719 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 Biomarker disease BEFREE Three focused DEGs, solute carrier family 22 member 4 (SLC22A4), interleukin‑1 receptor 2 (IL1R2) and vanin 3 (VNN3), were finally revealed to be independently associated with elevated NLR in CHF patients. 29901123 2018
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
0.010 Biomarker disease BEFREE The expression of mRNA for interleukin-1β (IL-1β) after LPS-treatment was significantly increased in octn1 <sup>-/-</sup>-microglia and siOCTN1-treated BV2 cells compared to the control cells. 28688036 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 AlteredExpression disease BEFREE Through transcriptomic profiling, we determined that low expression of the ergothioneine transporter OCTN1 (<i>SLC22A4</i>; ETT) strongly predicts poor event-free survival and overall survival in multiple cohorts of AML patients receiving treatment with the cytidine nucleoside analogue cytarabine. 28209616 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.010 GeneticVariation disease BEFREE Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment. 28420426 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE In this review, we introduce current topics on the physiological roles of OCTs with a focus on OCTN1 in neural cells and discuss its possible application to the treatment of neurological disorders. 28768995 2017
Respiratory Distress Syndrome, Newborn
0.010 Biomarker disease BEFREE Preterm infants (28-35 weeks of gestational age), weighing 1kg or more, with respiratory distress syndrome, requiring nasal continuous positive airway pressure, with increased respiratory effort and/or fraction of inspired oxygen (FiO<sub>2</sub>)≥0.40 to maintain oxygen saturation 91-95%, were randomized to receive surfactant by LMA following nCPAP or by ETT following mechanical ventilation (MV). 28130967 2017
Respiratory Distress Syndrome, Adult
0.010 Biomarker disease BEFREE Preterm infants (28-35 weeks of gestational age), weighing 1kg or more, with respiratory distress syndrome, requiring nasal continuous positive airway pressure, with increased respiratory effort and/or fraction of inspired oxygen (FiO<sub>2</sub>)≥0.40 to maintain oxygen saturation 91-95%, were randomized to receive surfactant by LMA following nCPAP or by ETT following mechanical ventilation (MV). 28130967 2017
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.010 Biomarker disease BEFREE Preterm infants (28-35 weeks of gestational age), weighing 1kg or more, with respiratory distress syndrome, requiring nasal continuous positive airway pressure, with increased respiratory effort and/or fraction of inspired oxygen (FiO<sub>2</sub>)≥0.40 to maintain oxygen saturation 91-95%, were randomized to receive surfactant by LMA following nCPAP or by ETT following mechanical ventilation (MV). 28130967 2017
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
0.010 AlteredExpression disease BEFREE Using immunofluorescence, we found that Slc22a4 is expressed in stria vascularis (SV) endothelial cells of rodent cochlea and targets their apical plasma membrane. 27023905 2016
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.010 AlteredExpression disease BEFREE Interestingly, lamina propria mononuclear cells (LPMCs) isolated from DSS-treated mice contained ERGO and showed [(3)H]ERGO uptake and Octn1 expression, whereas ERGO was undetectable in LPMCs of control mice. 26003890 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation disease BEFREE There were not significant association between the SLC22A4 gene polymorphism (rs3792876) and GD, HT and AITD was found. 26329403 2015
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
0.010 GeneticVariation disease BEFREE Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population. 26329403 2015
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.010 Biomarker disease BEFREE Accordingly, SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain. 25707686 2015
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 GeneticVariation disease BEFREE The aim of this study is to investigate whether SNP rs3792876 in the SLC22A4 gene is associated with GD, HT and AITD in a Chinese Han population. 26329403 2015
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
0.010 AlteredExpression disease BEFREE Interestingly, lamina propria mononuclear cells (LPMCs) isolated from DSS-treated mice contained ERGO and showed [(3)H]ERGO uptake and Octn1 expression, whereas ERGO was undetectable in LPMCs of control mice. 26003890 2015
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
0.010 Biomarker disease BEFREE Accordingly, SLC22A4 was associated with joint erosion in not-very-longstanding RA, although RA susceptibility association was weak and its clinical significance was uncertain. 25707686 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 Biomarker group BEFREE L-Carnitine transport is mainly mediated by novel organic cation transporters 1 (Octn1, Na(+)-independent) and 2 (Octn2, Na(+)-dependent); however, their kinetic properties and potential consequences in hypertension are unknown. 24587332 2014
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation disease BEFREE In addition, although the mechanism is not clear, single nucleotide polymorphisms of OCTN1 and OCTN2 genes are associated with increased incidences of rheumatoid arthritis, Crohn's disease and asthma. 22952014 2013