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

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

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

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

14517221

2003

dbSNP:

rs80356778

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:

rs80356779

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:

rs80356780

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:

rs80356780

Entrez Id:	1374
Gene Symbol:	CPT1A

CPT1A

CUI:	C1829703
Disease:

Carnitine palmitoyl transferase 1A deficiency

0.800

GeneticVariation

CLINVAR

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

14517221

2003

dbSNP:

rs80356783

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:

rs80356784

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:

rs80356787

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:

rs80356789

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:

rs80356790

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:

rs80356793

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

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

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

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

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

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:

rs80356778

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:

rs80356778

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:

rs80356779

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:

rs80356779

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:

rs80356780

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:

rs80356780

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