Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.310 GermlineCausalMutation ORPHANET Genetic causes of congenital hypothyroidism due to dyshormonogenesis. 21543982

2011

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.310 GermlineCausalMutation ORPHANET Congenital hypothyroidism. 20537182

2010

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.310 GeneticVariation 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