Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Waardenburg Syndrome, Type 4c
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
0.700 CausalMutation CLINVAR
Yemenite deaf-blind hypopigmentation syndrome
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
0.010 GeneticVariation BEFREE The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon. 16921166 2006