Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
0.320 Biomarker disease CTD_human