NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.110 Biomarker disease BEFREE This study was designed to define the prevalence of CH due to mutations of PAX8, NKX2-1 [encoding thyroid transcription factor (TTF)-1], FOXE1 (encoding TTF-2), and NKX2-5 among patients with permanent primary CH and in the general population in Japan. 20157192 2010
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.110 Biomarker disease HPO