SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.930 GeneticVariation disease BEFREE Most PCWH-associated SOX10 mutations result in premature termination codons (PTCs), for which the molecular mechanism has recently been delineated. 17855451 2007
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.930 GeneticVariation disease BEFREE We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. 16504559 2006
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.930 GeneticVariation disease BEFREE We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations. 29681101 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE This is the first truncating mutation in exon 3 of SOX10 that is associated with neurological symptoms in Waardenburg syndrome. 29792164 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. 26296878 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. 29216801 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. 22842075 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. 25256313 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. 29361054 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Molecular analysis detected a de novo p.Leu145Pro mutation in SOX10, which has previously been reported in a patient with WS and Hirschsprung disease. 26228106 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. 21965087 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. 28236341 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome. 24582978 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. 24715709 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. 25932447 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358 2007
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling. 16504559 2006
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in the endothelin-3 (EDN3), endothelin-B receptor (EDNRB), and Sox10 genes have been identified as causative for WS type IV. 10528251 1999
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. 28544110 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. 21531202 2011
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE As genetic background affects WS severity in both humans and mice, we established an N-ethyl-N-nitrosourea (ENU) mutagenesis screen to identify modifiers that increase the phenotypic severity of Sox10(LacZ/+) mice. 18397875 2008
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. 22848661 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). 27562378 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 AlteredExpression disease BEFREE SOX10 transcription factor and endothelin receptor type B (EDNRB) are responsible for WS type 4 (WS4), which also exhibits megacolon, while microphthalmia-associated transcription factor (MITF) is responsible for WS2, which is not associated with megacolon. 16921166 2006
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. 23643381 2013