NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
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 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 16418214 2006
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		0.400 Biomarker phenotype HPO