DisGeNET - a database of gene-disease associations

TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47

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:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

12843174

2003

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

12938097

2003

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

12864797

2003

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

12490071

2002

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.

11916616

2002

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.

11874711

2002

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

12213873

2002