SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.010 Biomarker disease BEFREE Serum biochemical diagnostic ratios predicting WD-ALF (ALP: bilirubin and AST:ALT) were determined in these patients. 31838773 2020
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.010 Biomarker disease BEFREE Laboratory studies were remarkable for pancytopenia (most notably a WBC of 0.4 × 10<sup>3</sup> cells/mm<sup>3</sup>, with an absolute neutrophil count (ANC) of 0 × 10<sup>3</sup> cells/mm<sup>3</sup>) and transaminase elevation (AST 268 IU/L, ALT 89 IU/L). 31701853 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.010 GeneticVariation disease BEFREE Children with MCAD deficiency had normal growth. p.Lys329Glu homozygotes had higher NBS C8-carnitine (23.4 ± 19.6 vs. 6.6 ± 3.0 μmol/L) and lifetime plasma C8-carnitine levels (6.2 ± 5 vs. 3.6 ± 1.9 μmol/L) compared to patients with at least one other pathogenic variant (p < .001 for both) and higher transaminases compared to compound heterozygotes (ALT 41.9 ± 6.2 vs. 31.5 ± 3.7 U/L, AST 63.9 ± 5.8 vs. 45.7 ± 1.8 U/L, p < .05 for both). 31836396 2020
CUI: C0424101
Disease: Inattention
Inattention
0.010 Biomarker phenotype BEFREE Children's performance on the AST was meaningfully related to hyperactivity-inattention, externalizing behavior and overall level of childhood psychopathology. 31535948 2020
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 Biomarker phenotype BEFREE Children's performance on the AST was meaningfully related to hyperactivity-inattention, externalizing behavior and overall level of childhood psychopathology. 31535948 2020
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.010 AlteredExpression disease BEFREE In patients with nonalcoholic steatohepatitis (NASH), PNPLA3 GG compared to CC was associated with higher AST levels [38.4±25.3 versus 36.7±40.1IU/L, p=0.0395)] and with the presence of liver fibrosis (≥F2 fibrosis, p=0.0272). 31054980 2020
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 Biomarker disease BEFREE <b>Objectives:</b> To validate the usefulness of a hepatic fibrosis scoring system fibrosis-4 (FIB-4) index to diagnose liver diseases in rheumatoid arthritis (RA) patients treated with methotrexate (MTX).<b>Methods:</b> The FIB-4 index (age(years) × AST(U/L)/platelet (PLT) (10<sup>9</sup>/L) × √ALT(U/L)), proposed as a predictor for liver fibrosis in HIV/HCV coinfection, was evaluated in this study. 30379089 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation disease BEFREE A 10.0% tumor shrinkage in the SLD indicated an indicative efficacy evaluation threshold for NSCLC patients treated with chemotherapy plus targeted agents. 31355220 2019
CUI: C0007384
Disease: Cataplexy
Cataplexy
0.010 Biomarker disease BEFREE We conclude that the SLD functions to engage arousal-motor synchrony during both wakefulness and REM sleep, and we propose that pathological recruitment of SLD neurons could underlie cataplexy in narcolepsy. 31679942 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 Biomarker group BEFREE <b>Materials and methods:</b> The effect of five days oral administration of TiO<sub>2</sub>NPs (21 and 80 nm) with different doses (50, 250 and 500 mg/kg body weight) was assessed in mice via measurement of oxidative stress markers; glutathione (GSH), superoxide dismutase (SOD), catalase (CAT), malondialdehyde (MDA) and nitric oxide (NO), liver function indices; aspartate and alanine aminotransferases (AST and ALT), chromosomal aberrations and liver histopathological pattern. 31099265 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 Biomarker disease BEFREE With regard to the antitumor activity of Co-SLD, inhibited cell growth and migration capability were outstandingly observed in oral squamous cell carcinoma treated with 10 and 20 μM Co-SLD, which could be mainly attributed to the Co-SLD-elicited mitochondrial damage as marked by the depression of mitochondrial membrane potential, ROS accumulation and ATP depletion. 31062618 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 Biomarker disease BEFREE With regard to the antitumor activity of Co-SLD, inhibited cell growth and migration capability were outstandingly observed in oral squamous cell carcinoma treated with 10 and 20 μM Co-SLD, which could be mainly attributed to the Co-SLD-elicited mitochondrial damage as marked by the depression of mitochondrial membrane potential, ROS accumulation and ATP depletion. 31062618 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis
0.010 GeneticVariation disease BEFREE We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid A, leucocytosis with neutrophilia.Infectious diseases were excluded. 31443670 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 Biomarker disease BEFREE Predictive Factors for Efficacy of AST-120 Treatment in Diabetic Nephropathy: a Prospective Single-Arm, Open-Label, Multi-Center Study. 31001934 2019
Disseminated Intravascular Coagulation
0.010 Biomarker disease BEFREE Abbreviations: AML: acute myeloid leukemia; APL: acute promyelocytic leukemia; WBC: white blood cell; RBC: red blood cell; Hb: hemoglobin; PT: prothrombin time; TT: thrombin time; APTT: activated partial thromboplastin time; TP: total protein; ALB: albumin; AST: aspartate transaminase; ALT: alanine aminotransferase; LDH: lactate dehydrogenase; ATRA: all-trans retinoic acid; ICH: intracranial hemorrhage; DIC: disseminated intravascular coagulation. 30453810 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 Biomarker disease BEFREE Compared to patients with IgAN-NSD, those with IgAN-SD had significantly lower mean serum protein (6.4 g/dL vs. 6.7 g/dL; p = 0.02), albumin (3.7 g/dL vs. 3.9 g/dL; p = 0.02), and complement (C3) (94 mg/dL vs. 103 mg/dL; p = 0.02) levels. 30785896 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 AlteredExpression disease BEFREE To determine whether blood levels of the uremic toxin indoxyl sulfate (IS) increase in HF and whether AST-120 can reduce those levels and improve HF. 30903544 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 Biomarker disease BEFREE Compared to normal control diet (CD), FATZO mice fed with WDF were heavier with higher body fat measured by qNMR, hypercholesterolemia and had progressive elevations in AST (~ 6 fold), ALT (~ 6 fold), liver over body weight (~ 2 fold) and liver triglyceride (TG) content (1.4-2.9 fold). 30885145 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 Biomarker group BEFREE In addition, the hepatoprotective effect of 20E was demonstrated by decreased plasma concentrations of AST, ALT and of hepatic malondialdehyde.Our results suggest that <i>G. tarabuli</i> represents a good model to study diet-induced metabolic disorders and hepatic dysfunctions. 31190566 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.010 Biomarker disease BEFREE We conclude that the SLD functions to engage arousal-motor synchrony during both wakefulness and REM sleep, and we propose that pathological recruitment of SLD neurons could underlie cataplexy in narcolepsy. 31679942 2019
CUI: C0028259
Disease: Nodule
Nodule
0.010 Biomarker phenotype BEFREE When samples were grouped according to the serum level of AKR1B10 (≥232.7pg/ml), serum AKR1B10 positively correlated to serum AFP (χ<sup>2</sup>=6.295, P=0.012), ALT (χ<sup>2</sup>=18.803, P=0.000), AST (χ<sup>2</sup>=33.421, P=0.000), tumor nodule number (χ<sup>2</sup>=6.777, P=0.009), cirrhosis (χ<sup>2</sup>=43.458, P=0.000), and tumor size (χ<sup>2</sup>=6.042, P=0.014) in the Chi-square test. 31495535 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease BEFREE Moreover, rats subjected to long-term SheaFlex75 ingestion showed normal biochemical profiles (AST, BUN and total cholesterol) and presented relatively lower triglycerides (TGs) and body weights than the OA-control rats, which suggested the safety of prolonged use of this oil extract. 31002699 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.010 Biomarker disease BEFREE These guidelines from the AST Infectious Diseases Community of Practice review the diagnosis and management of pneumonia in the post-transplant period. 30900275 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE Astragaloside IV (AST-IV) is a primary bioactive compound of Radix Astragali, which is widely used in traditional Chinese medicine to treat stroke. 30708047 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.010 Biomarker disease BEFREE Multivariate logistic regression models, adjusted for age, gender, BMI, sampling season, glucose, total cholesterol, triglycerides, HOMA-IR, hs-CRP, ALT, AST, and elevated VAT, revealed an association between FL and vitamin D (VD) insufficiency (RM 1.61 [0.99-2.61]) and with VDD (RM 1.68 [1.02-2.77]); however, statistical significance was lost when including caloric consumption and physical activity in the model. 29735791 2019