RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontanelles, and a short stature. 21040462 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO