SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Agenesis of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.040 AlteredExpression disease BEFREE We also reported that in ACC and basal-like breast carcinoma (BBC), a triple-negative breast cancer subtype, expression of SOX10 similarly demarcates a highly conserved gene signature enriched with neural stem cell genes. 28216417 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.040 Biomarker disease BEFREE These cells activated NOTCH1 signaling and co-expressed SOX10 and other ACC-intrinsic neural crest stem cell markers with CD133, a CSC cell surface marker, suggesting that ACC is driven by a previously uncharacterized population of SOX10+/CD133+ cells with neural stem cell properties. 28500913 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.040 AlteredExpression disease BEFREE We identified in ACC CD133-positive CSC that expressed NOTCH1 and SOX10, formed spheroids, and initiated tumors in nude mice. 27084744 2016
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.040 Biomarker disease BEFREE SOX10 as a novel diagnostic marker for ACC and BBC provides important molecular insight into their molecular aetiology and cell origin. 23799842 2013