Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GeneticVariation disease BEFREE Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing. 29045167 2017
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GeneticVariation disease BEFREE Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II. 26296878 2015
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GeneticVariation disease BEFREE The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. 25817900 2015
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 Biomarker disease BEFREE The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. 24735604 2014
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GeneticVariation disease BEFREE A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2. 22842075 2012
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GeneticVariation disease BEFREE Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 21965087 2012
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 Biomarker disease BEFREE Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. 22848661 2012
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GermlineCausalMutation disease ORPHANET Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. 21898658 2011
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 GermlineCausalMutation disease ORPHANET Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.570 Biomarker disease CTD_human