Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events. 25919294 2015
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants. 22854105 2013
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290 2013
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. 21227726 2011
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 18550408 2008
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. 18363739 2008
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 16996287 2006
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. 16615913 2006
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 Biomarker disease GENOMICS_ENGLAND Disorders of carnitine transport and the carnitine cycle. 16602102 2006
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 12673791 2003
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 11855939 2002
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. 10862092 2000
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GeneticVariation disease CLINVAR Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 9600456 1998
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 Biomarker disease CTD_human
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.700 GermlineCausalMutation disease ORPHANET