Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.300 Biomarker disease GENOMICS_ENGLAND These findings show that dysregulation of the TAK1 complex produces a close phenocopy of FMD caused by FLNA mutations. 27426733 2016