SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Pelizaeus Merzbacher like disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		0.020 AlteredExpression disease BEFREE This promoter mutation has only recently been reported in GJC2-PMLD but it has been postulated to affect the binding of the transcription factor SOX10 and appears to be a prevalent mutation, accounting for ~29% of reported patients with GJC2-PMLD. 21959080 2011
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		0.020 AlteredExpression disease BEFREE Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. 20695017 2010