SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
Disease: Exaggerated cupid's bow ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0.100 GeneticVariation phenotype CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019