TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241 1995
dbSNP: rs104893669
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
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. 10084596 1999
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. 10468986 1999
dbSNP: rs104893669
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
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
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
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: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893669
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: rs104893669
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
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: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. 11415848 2001
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. 9924196 1999
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. 9024270 1997
dbSNP: rs104893669
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
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528 2000
dbSNP: rs104893669
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
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. 10084596 1999
dbSNP: rs121908083
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
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. 11415848 2001
dbSNP: rs121908083
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908083
rs121908083
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
dbSNP: rs121908083
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
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. 10468986 1999