CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events. 25919294 2015
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		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
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Fatty Acid oxidation disorders in a chinese population in taiwan. 23700290 2013
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		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
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 18550408 2008
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. 18363739 2008
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 16996287 2006
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. 16615913 2006
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 Biomarker disease GENOMICS_ENGLAND Disorders of carnitine transport and the carnitine cycle. 16602102 2006
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 12673791 2003
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 11855939 2002
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GeneticVariation disease CLINVAR Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. 10862092 2000
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		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
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 CausalMutation disease CLINVAR
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 Biomarker disease CTD_human
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		0.700 GermlineCausalMutation disease ORPHANET