ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: Micrognathism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation disease BEFREE We conclude that in patients with MAD due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and micrognathia occurs as early as 5 months of age. 20814950 2010
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker disease HPO