PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Ectopic thyroid tissue (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		0.400 GermlineCausalMutation phenotype ORPHANET Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. 25214233 2014
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		0.400 Biomarker phenotype HPO