×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
28390600
2017
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
27240497
2016
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
24311220
2014
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Sox10 expressing cells in the lateral wall of the aged mouse and human cochlea.
24887110
2014
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.
24735604
2014
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
23643381
2013
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
GeneticVariation
disease
UNIPROT
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
21898658
2011
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
21898658
2011
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
MGD
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.
20739296
2010
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
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
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
GeneticVariation
disease
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
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
17999358
2007
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
12668617
2003
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
10973953
2000
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
10982026
2000
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
9425902
1998
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.
9760192
1998
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
GeneticVariation
disease
UNIPROT
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
9462749
1998
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CLINGEN
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
9462749
1998
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
GENOMICS_ENGLAND
Third World aid.
2364338
1990
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
CausalMutation
disease
CLINVAR
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.900
Biomarker
disease
CTD_human
×
Entrez Id:
5435
Gene Symbol:
POLR2F
POLR2F
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5435
Gene Symbol:
POLR2F
POLR2F
0.100
CausalMutation
disease
CLINVAR