SOX6, SRY-box transcription factor 6, 55553

N. diseases: 105; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.010 Biomarker disease BEFREE Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features. 25439488 2015