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: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency. 12111367 2002
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency. 27066452 2016
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. 11350183 2001
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. 15669684 2004
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. 11441142 2001
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. 11350182 2001
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. 9691089 1998
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. 12189492 2002
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. 12189492 2002
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. 14517221 2003
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland. 21962599 2012
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. 15110323 2004
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease CLINVAR Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. 14517221 2003
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		0.900 GeneticVariation disease UNIPROT Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. 11350182 2001
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.560 GeneticVariation disease BEFREE Four DMPs [cg19693031 (TXNIP), cg04816311 (C7orf50), cg00574958 (CPT1A), cg07988171 (TPM4)] were associated with T2D after correction for inflation by possible systematic biases. 30107520 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.560 GeneticVariation disease BEFREE We replicated in the Qatari population seven CpG associations with BMI (SOCS3, p value = 3.99 × 10(-6); SREBF1, p value = 4.33 × 10(-5); SBNO2, p value = 5.87 × 10(-5); CPT1A, p value = 7.99 × 10(-5); PRR5L, p value = 1.85 × 10(-4); cg03078551, intergenic region on chromosome 17; p value = 1.00 × 10(-3); LY6G6E, p value = 1.10 × 10(-3)) and one with T2D (TXNIP, p value = 2.46 × 10(-5)). 26823690 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.560 GeneticVariation disease BEFREE Neither haplotypes nor SNPs of CPT1A were found to be associated either with susceptibility to type 2 diabetes mellitus or with HLC or insulin resistance in type 2 diabetic patients. 17445541 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.370 GeneticVariation disease BEFREE These findings provide evidence of the CPT1 variant 2 involvement in breast cancer survival, cell death escape and invasion. 26799588 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.360 GeneticVariation disease BEFREE These findings provide evidence of the CPT1 variant 2 involvement in breast cancer survival, cell death escape and invasion. 26799588 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.280 GeneticVariation disease BEFREE Although marginally positive indications for linkage in subgroups of families were found with IRS-1, CPT-1, and HSL loci, our data suggested that these genes are not major contributors to obesity. 10334320 1999
CUI: C0028754
Disease: Obesity
Obesity 		0.280 GeneticVariation disease BEFREE The objective was to verify whether variants in the gene encoding the carnitine palmitoyltransferase I (CPT1), a key enzyme in beta-oxidation of fatty acids, are associated with obesity phenotypes, alone or in interaction with fat intake. 17089095 2007
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.170 GeneticVariation disease BEFREE The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1). 26442469 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.160 GeneticVariation disease BEFREE The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1). 26442469 2015
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 GeneticVariation disease BEFREE Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. 12189492 2002
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.150 GeneticVariation disease BEFREE Homozygosity for the c.1436C→T sequence variant of CPT1A impairs fasting ketogenesis, and can cause hypoketotic hypoglycemia in young children. 21763168 2011