TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Thyroid Dyshormonogenesis 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.310 GermlineCausalMutation disease ORPHANET Genetic causes of congenital hypothyroidism due to dyshormonogenesis. 21543982 2011
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.310 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1 		0.310 GeneticVariation disease BEFREE Most cases of goitrous congenital hypothyroidism (CH) from thyroid dyshormonogenesis 1) follow a recessive mode of inheritance and 2) are due to mutations in the thyroid peroxidase gene (TPO). 18029453 2008