Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. | 25817900 | 2015 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.570 | Biomarker | disease | BEFREE | Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. | 22848661 | 2012 | ||||
|
0.570 | GermlineCausalMutation | disease | ORPHANET | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 | ||||
|
0.570 | GermlineCausalMutation | disease | ORPHANET | Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | 17999358 | 2007 | ||||
|
0.570 | Biomarker | disease | CTD_human |