Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.300 Biomarker group GENOMICS_ENGLAND A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 30879640 2019