SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Yemenite deaf-blind hypopigmentation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		0.330 GeneticVariation disease BEFREE We also reviewed and summarized the outcomes of 23 patients with Waardenburg syndrome type 4, PCWH and Yemenite deaf-blind hypopigmentation syndrome, in which SOX10 mutations were identified. 22963253 2012
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		0.330 Biomarker disease GENOMICS_ENGLAND Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		0.330 GeneticVariation disease BEFREE We suggest that the variability in transactivation ability of SOX10 mutant proteins may account for the different phenotypes between WS4 and YDBS and that Sp1 is a potential modifier gene of WS4. 16921166 2006
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		0.330 GeneticVariation disease BEFREE In contrast, no SOX10 alteration could be found in the other, severe case of the Yemenite deaf-blind hypopigmentation syndrome. 10441344 1999