CPT1B, carnitine palmitoyltransferase 1B, 1375

N. diseases: 42; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 Biomarker disease BEFREE Reported susceptibility SNPs for narcolepsy in the Japanese population, CPT1B (carnitine palmitoyltransferase 1B), TRA@ (T-cell receptor alpha) and P2RY11 (purinergic receptor P2Y, G-protein coupled, 11), were found to explain 0.8% of narcolepsy onset (P<sub>whole genome without HLA-DQB1*06:02</sub>=9.74 × 10<sup>-2</sup>). 27305985 2016
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 GeneticVariation disease BEFREE This comprehensive genetic study sought to assess variations in CHKB and CPT1B susceptibility genes and HLA-DQB1*06:02 allele status in Turkish patients with narcolepsy and healthy persons. 24571861 2014
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 GeneticVariation disease BEFREE In contrast, CPT1B/CHKB polymorphisms have only been shown to be associated with narcolepsy in Japanese, with replication in a small group of Koreans. 22177342 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 GeneticVariation disease BEFREE These studies have identified four gene variants associated with restless legs syndrome (BTBD9, MEIS1, MAP2K5/LBXCOR1, and PTPRD) and two variants associated with narcolepsy (one in the T-cell receptor α locus and another between CPT1B and CHKB). 21285061 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 AlteredExpression disease BEFREE Stepwise multiple regression analysis using the dichotomous variable for acylcarnitine (normal or abnormal) as an objective variable revealed that the diagnosis of narcolepsy but not CPT1B expression level and BMI was associated with abnormally low acylcarnitine levels (P = 0.006). 21358852 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 AlteredExpression disease BEFREE Real-time quantitative PCR assays in white blood cells indicated decreased CPT1B and CHKB expression in subjects with the C allele, suggesting that a genetic variant regulating CPT1B or CHKB expression is associated with narcolepsy. 18820697 2008
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.360 Biomarker disease CTD_human Real-time quantitative PCR assays in white blood cells indicated decreased CPT1B and CHKB expression in subjects with the C allele, suggesting that a genetic variant regulating CPT1B or CHKB expression is associated with narcolepsy. 18820697 2008
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		0.310 Biomarker disease BEFREE CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy. 19404393 2009
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		0.310 Biomarker disease CTD_human Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. 18820697 2008
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Biomarker phenotype CTD_human Inhibition of carnitine palymitoyltransferase1b induces cardiac hypertrophy and mortality in mice. 24330405 2014
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group CTD_human Genomic models of short-term exposure accurately predict long-term chemical carcinogenicity and identify putative mechanisms of action. 25058030 2014
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.300 Biomarker disease CTD_human Genomic models of short-term exposure accurately predict long-term chemical carcinogenicity and identify putative mechanisms of action. 25058030 2014
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Biomarker phenotype CTD_human Inhibition of carnitine palymitoyltransferase1b induces cardiac hypertrophy and mortality in mice. 24330405 2014
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		0.300 Biomarker disease CTD_human Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. 14563825 2004
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.300 Biomarker disease CTD_human Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. 14563825 2004
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		0.300 Biomarker disease CTD_human Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. 14563825 2004
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 Biomarker disease BEFREE Body weight, dietary intake, glucose, cholesterol and triacylglycerol plasma content, liver glycogen and triacylglycerol content and mRNA expression of liver carnitine palmitoyltransferase I and II (CPT I and II), as well as microsomal triglyceride transfer protein (MTP), liver fatty acid-binding protein (L-FABP), peroxisome proliferator-activated receptor-alpha (PPAR-alpha), and apolipoprotein B (apoB), were assessed. 30322784 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.020 AlteredExpression disease BEFREE Furthermore, CBD improved alcohol-induced hepatic metabolic dysregulation and steatosis by restoring changes in hepatic mRNA or protein expression of ACC-1, FASN, PPARα, MCAD, ADIPOR-1, and mCPT-1. 28935932 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.020 AlteredExpression disease BEFREE Consistent with the cell culture system, muscle-specific SENP2 overexpression led to a marked increase in the mRNA levels of CPT1b and ACSL1 and thereby in FAO in the skeletal muscle, which ultimately alleviated high-fat diet-induced obesity and insulin resistance. 25784542 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation disease BEFREE Differential epigenetic and transcriptional response of the skeletal muscle carnitine palmitoyltransferase 1B (CPT1B) gene to lipid exposure with obesity. 26058865 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 GeneticVariation disease BEFREE Carriers of the rare CPT1b 66V (rs3213445) allele had significantly higher γ-glutamyl transpeptidase (GGT), glutamic oxaloacetic transaminase (GOT) and glutamic pyruvate transaminase (GPT) activities (P< 0·0001, P= 0·03 and P= 0·048, respectively) and a higher fatty liver index (FLI, P= 0·026). 22809552 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.020 GeneticVariation disease BEFREE Carriers of the rare CPT1b 66V (rs3213445) allele had significantly higher γ-glutamyl transpeptidase (GGT), glutamic oxaloacetic transaminase (GOT) and glutamic pyruvate transaminase (GPT) activities (P< 0·0001, P= 0·03 and P= 0·048, respectively) and a higher fatty liver index (FLI, P= 0·026). 22809552 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 AlteredExpression disease BEFREE Low expression of CPT1B in high-grade tumors was associated with low FAO and low acyl carnitine levels in high-grade bladder cancer, which were confirmed using tissue microarrays. 30846479 2019