NKX2-2, NK2 homeobox 2, 4821

N. diseases: 32; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease GENOMICS_ENGLAND We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas. 24411943 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease BEFREE We identified homozygous mutations in 7 different genes in 11 unrelated patients and show that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas. 24411943 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.310 Biomarker disease GENOMICS_ENGLAND