DisGeNET - a database of gene-disease associations

CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.

25919294

2015

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

22854105

2013

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Fatty Acid oxidation disorders in a chinese population in taiwan.

23700290

2013

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.

21227726

2011

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.

18363739

2008

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

15622536

2005

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

15622536

2005

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

15622536

2005

dbSNP:

rs74315296

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

15622536

2005

dbSNP:

rs74315300

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

15622536

2005

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

15489334

2004

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

15489334

2004

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

15489334

2004

dbSNP:

rs74315296

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

15489334

2004

dbSNP:

rs74315300

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

15489334

2004

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

14615409

2003

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

14605500

2003

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

14605500

2003

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

14615409

2003

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

CLINVAR

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

12673791

2003

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

14615409

2003

dbSNP:

rs74315295

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

14605500

2003

dbSNP:

rs74315296

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

14605500

2003

dbSNP:

rs74315296

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

14615409

2003

dbSNP:

rs74315300

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

14615409

2003