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
0.800 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
Waardenburg Syndrome, Type 4c
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
0.800 GeneticVariation UNIPROT A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. 18348274 2008
Waardenburg Syndrome, Type 4c
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
0.800 GeneticVariation UNIPROT SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749 1998
Waardenburg Syndrome, Type 4c
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
0.800 CausalMutation CLINVAR