SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE IIE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
dbSNP: rs74315515
rs74315515
Entrez Id: 5435;6663
Gene Symbol: POLR2F;SOX10
POLR2F;SOX10
CUI: C2700405
Disease:
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation UNIPROT A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. 10441344 1999