RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		0.320 Biomarker disease CTD_human
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		0.320 GeneticVariation disease BEFREE Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. 23290074 2013
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		0.320 GeneticVariation disease BEFREE Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant. 25311905 2015