MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
Disease: Neonatal diabetes mellitus ×
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 		0.330 GeneticVariation disease BEFREE Interestingly, two different homozygous germline mutations in HLXB9, p.F248L and p.F272L, were reported in neonatal diabetes, a condition with functional β-cell deficiency. 29309627 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 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 		0.330 GeneticVariation disease BEFREE Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family. 23562494 2013
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 Biomarker disease GENOMICS_ENGLAND Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family. 23562494 2013
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 Biomarker disease GENOMICS_ENGLAND