Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia
0.310 GeneticVariation disease BEFREE We identified germline mutations in MET, encoding a receptor tyrosine kinase, that segregate with an autosomal-dominant form of OFD in three families and a mutation in a fourth affected subject from a simplex family and with bilateral disease. 26637977 2015
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia
0.310 Biomarker disease CTD_human