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

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

27305979

2016

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

CausalMutation

CLINVAR

Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.

24482635

2014

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

CausalMutation

CLINVAR

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

18029453

2008

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

CausalMutation

CLINVAR

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

17468186

2007

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.

16684826

2006

dbSNP:

rs104893669

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908083

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908084

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908085

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908086

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908087

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

CausalMutation

CLINVAR

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

15745925

2005

dbSNP:

rs121908088

Entrez Id:	7173
Gene Symbol:	TPO

TPO

CUI:	C1291299
Disease:

Deficiency of iodide peroxidase (disorder)

0.800

GeneticVariation

UNIPROT

Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.

16284446

2005