CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.100 GeneticVariation group GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.100 GeneticVariation group GWASCAT Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 GeneticVariation phenotype BEFREE These findings provide evidence of the CPT1 variant 2 involvement in breast cancer survival, cell death escape and invasion. 26799588 2016
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		0.030 GeneticVariation disease BEFREE Additionally, solute carrier family 25 (carnitine/acylcarnitine translocase) member 20 (SLC25A20) and acyl-coenzyme A dehydrogenase 2 long chain (ACADVL) were negatively correlated with HOMA-IR; PPARα, acetyl-coenzyme A dehydrogenase 2 (ACAA2), and carnitine palmitoyltransferase 1A (CPT1A) were positively correlated with HOMA-IR. 30428868 2018
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		0.030 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE The proliferation and tumorigenesis in V600E melanoma were decrease after CPT1A knockdown. 27793752 2016
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 GeneticVariation disease BEFREE Interestingly, mice with downregulated lipid metabolism due to the Cpt1a P479L mutation showed resistance to EAE induction. 31527712 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy. 28315807 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 GeneticVariation disease LHGDN Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. 16697732 2006
CUI: C0025202
Disease: melanoma
melanoma 		0.010 GeneticVariation disease BEFREE The proliferation and tumorigenesis in V600E melanoma were decrease after CPT1A knockdown. 27793752 2016
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 GeneticVariation disease BEFREE All of the functional evidence suggested the important functional mechanisms underlying the associations of the 2 SNPs (rs2278729 and rs3736228) and 3 genes (RPL31, CPT1A and MTL5) with osteoporosis. 28369098 2017
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 GeneticVariation disease BEFREE CPT1A P479L homozygosity, which has been previously associated with infant mortality in Alaska Native and British Columbia First Nations populations, was associated with unexpected infant death (SIDS/SUDI, infection) throughout Nunavut (OR:3.43, 95% CI:1.30-11.47). 23231747 2012
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.010 GeneticVariation disease LHGDN Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. 16697732 2006
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		0.010 GeneticVariation disease BEFREE Subjects with CHC carrying DDX5 minor allele or DDX5-POLG2 haplotypes are at an increased risk of developing advanced fibrosis, whereas those carrying the CPT1A minor allele are at a decreased risk. 16697732 2006
CUI: C3658248
Disease: Hypertriglyceridemic Waist
Hypertriglyceridemic Waist 		0.010 GeneticVariation phenotype BEFREE There was no evidence of any SNP associated with HTGW at the genome-wide level but two CpG sites (cg00574958 and cg17058475) in CPT1A and one CpG site (cg06500161) in ABCG1 were significantly associated with HTGW and remained significant after adjusting for the closely related components of metabolic syndrome. 26798409 2016