SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: cerebellar function ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742034
Disease: cerebellar function
cerebellar function 		0.010 Biomarker disease BEFREE Our results define a role for Sox2 in cerebellar function and development, and identify a functional requirement for Sox2 within postnatal BG, of potential relevance for ataxia in mouse mutants, and in human patients. 29732603 2018