DisGeNET - a database of gene-disease associations

CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61

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:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

15110323

2004

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

14517221

2003

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

9691089

1998

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

12189492

2002

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

15669684

2004

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

12111367

2002

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

11350182

2001

dbSNP:

rs28936374

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

11441142

2001

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

11441142

2001

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

12111367

2002

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

11350182

2001

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

14517221

2003

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

15110323

2004

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

12189492

2002

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

9691089

1998

dbSNP:

rs80356776

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

15669684

2004

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

11441142

2001

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

15110323

2004

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

15669684

2004

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

14517221

2003

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

9691089

1998

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

12111367

2002

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

12189492

2002

dbSNP:

rs80356777

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

11350182

2001

dbSNP:

rs80356778

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

UNIPROT

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

11441142

2001