Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.320 Biomarker BEFREE Consistently, oligodendroglial Sox2-deficient mice developed severe tremors and ataxia, typical phenotypes indicative of hypomyelination, and displayed severe impairment of motor function and prominent deficits of brain OL differentiation and myelination persisting into the later CNS developmental stages. 29335358

2018
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0004134
Disease: Ataxia
Ataxia 		0.320 Biomarker 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