SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019