Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of iodide peroxidase (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. 27166716 2016
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. 27305979 2016
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 27373559 2016
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. 27617131 2015
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease 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
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. 25241611 2014
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations. 23512414 2013
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. 23236987 2013
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 18029453 2008
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. 17468186 2007
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. 16684826 2006
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. 16284446 2005
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. 15745925 2005
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. 12938097 2003
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. 12864797 2003
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect. 12843174 2003
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. 14751036 2003
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. 11874711 2002
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease 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
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 11916616 2002
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach. 12490071 2002
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 11916616 2002
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. 11415848 2001
Deficiency of iodide peroxidase (disorder)
0.700 GeneticVariation disease UNIPROT Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528 2000
Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation disease CLINVAR Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528 2000