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: rs1031249675
rs1031249675
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1998045
Disease:
Subclinical hyperthyroidism 		0.010 GeneticVariation BEFREE A novel heterozygous TSHR point mutation causing a glutamic acid to lysine substitution at codon 575 (E575K) in the second extracellular loop was detected in the three family members with subclinical hyperthyroidism, but was absent in her one daughter with normal thyroid function. 20929407 2010
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 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: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241 1995
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. 16684826 2006
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. 27305979 2016
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. 16284446 2005
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. 9024270 1997
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 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: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. 9924196 1999
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. 12938097 2003
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. 12864797 2003
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. 11415848 2001
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect. 12843174 2003
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 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: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. 12490071 2002
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. 10468986 1999
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. 11874711 2002
dbSNP: rs1035791118
rs1035791118
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 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: rs1043843717
rs1043843717
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE In this report, we presented two children with C</span>H who were born to consanguineous parents and were homozygous carriers of a missense (G319R) TPO mutation, the mutation segregated with the disease status in the families confirming its pathogenicity. 24158420 2014
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