RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Pyle metaphyseal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.110 GeneticVariation disease BEFREE A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 29891876 2018
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.110 Biomarker disease HPO