SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Waardenburg Syndrome, Type 4c ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
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
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
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
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c 		0.800 GeneticVariation UNIPROT SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 9462749 1998
dbSNP: rs121909117
rs121909117
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2750452
Disease:
Waardenburg Syndrome, Type 4c 		A 0.800 CausalMutation CLINVAR