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 |
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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 |
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0.930 | 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 |
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0.930 | Biomarker | disease | MGD | Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice. | 25399070 | 2015 |
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0.930 | GermlineCausalMutation | disease | ORPHANET | Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. | 24311220 | 2014 |
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0.930 | GermlineCausalMutation | disease | ORPHANET | Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene. | 22963253 | 2012 |
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0.930 | Biomarker | disease | GENOMICS_ENGLAND | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 |
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0.930 | Biomarker | disease | GENOMICS_ENGLAND | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 |
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0.930 | GeneticVariation | disease | UNIPROT | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 |
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0.930 | GeneticVariation | disease | UNIPROT | Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. | 19208381 | 2009 |
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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 |
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0.930 | Biomarker | disease | GENOMICS_ENGLAND | Interestingly, neurological phenotypes reminiscent of that observed in WS4 (PCWH syndrome [peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease]) were observed in some WS2-affected patients with SOX10 deletions. | 17999358 | 2007 |
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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 |
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0.930 | GeneticVariation | disease | UNIPROT | Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. | 15004559 | 2004 |
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0.930 | Biomarker | disease | GENOMICS_ENGLAND | Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. | 10762540 | 2000 |
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0.930 | GeneticVariation | disease | UNIPROT | Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. | 10762540 | 2000 |
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0.930 | 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 |
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0.930 | CausalMutation | disease | CLINVAR | |||
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0.930 | Biomarker | disease | CTD_human |