Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 27373559

2016
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. 27617131

2015
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 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
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. 25241611

2014
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations. 23512414

2013
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. 23236987

2013
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 18029453

2008
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. 17468186

2007
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. 15745925

2005
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. 14751036

2003
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 11916616

2002
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528

2000
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. 10084596

1999
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. 10468986

1999
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. 9024270

1997
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241

1995
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 CausalMutation CLINVAR Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. 1401057

1992
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation CLINVAR