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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Sox10 and PCWH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SOX10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to PCWH syndrome  (DOID:0090111)
  • 31 papers in RGD have been used to annotate Sox10


    • An association has been curated linking Sox10 and PCWH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ito Y, etal., Neurobiol Dis. 2015 Aug;80:1-14. doi: 10.1016/j.nbd.2015.04.013. Epub 2015 May 7.
  • The annotation has been inferred from sequence orthology with SOX10 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Ito Y, etal., Neurobiol Dis. 2015 Aug;80:1-14. doi: 10.1016/j.nbd.2015.04.013. Epub 2015 May 7.
  • 3 RGD objects have been annotated to PCWH syndrome  (DOID:0090111)
  • 31 papers in RGD have been used to annotate Sox10
  • Qualifier: severity


    • An association has been curated linking Sox10 and PCWH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SOX10 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to PCWH syndrome  (DOID:0090111)
  • 31 papers in RGD have been used to annotate Sox10
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Sox10 and PCWH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Sox10 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to PCWH syndrome  (DOID:0090111)
  • 31 papers in RGD have been used to annotate Sox10
  • Curation Notes: OMIM:609136


    • An association has been curated linking Sox10 and PCWH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SOX10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to PCWH syndrome  (DOID:0090111)
  • 31 papers in RGD have been used to annotate Sox10
  • Curation Notes: ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
  • Original References(s): PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:1636383 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 PMID:9462749


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