SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.140 GeneticVariation disease BEFREE However, E248fsX30 SOX10 protein seems to decay faster than the WT one, which may underlie the mild WS2 phenotype caused by this mutation. 21965087 2012
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.140 GeneticVariation disease BEFREE This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. 26296878 2015
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.140 GeneticVariation disease CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.140 GeneticVariation disease BEFREE About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. 29792164 2018
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.140 GeneticVariation disease BEFREE The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. 30628718 2019