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:

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:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Antenatal presentation of carnitine palmitoyltransferase II deficiency.

11477613

2001

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:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

9758712

1998

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: structure of the gene and characterization of two novel disease-causing mutations.

7711730

1995

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:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

8651281

1996

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

1528846

1992

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

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

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

8358442

1993

dbSNP:

rs28936375

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

10090476

1999

dbSNP:

rs74315293

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833511
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

0.800

GeneticVariation

UNIPROT

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

1528846

1992

dbSNP:

rs74315293

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833511
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

0.800

GeneticVariation

UNIPROT

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

8651281

1996

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

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

9758712

1998

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:

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: structure of the gene and characterization of two novel disease-causing mutations.

7711730

1995

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Antenatal presentation of carnitine palmitoyltransferase II deficiency.

11477613

2001

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:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

10090476

1999

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

8651281

1996

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

8358442

1993

dbSNP:

rs74315294

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C1833508
Disease:

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

0.800

GeneticVariation

UNIPROT

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

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