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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Gjc2 and hereditary spastic paraplegia 44 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 GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 44  (DOID:0110796)
  • 22 papers in RGD have been used to annotate Gjc2


    • An association has been curated linking Gjc2 and hereditary spastic paraplegia 44 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Orthmann-Murphy JL, etal., Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Orthmann-Murphy JL, etal., Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 44  (DOID:0110796)
  • 22 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutation:cds:p.I33M (human)


    • An association has been curated linking Gjc2 and hereditary spastic paraplegia 44 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 GJC2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 44  (DOID:0110796)
  • 22 papers in RGD have been used to annotate Gjc2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Gjc2 and hereditary spastic paraplegia 44 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 GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 44  (DOID:0110796)
  • 22 papers in RGD have been used to annotate Gjc2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
  • Original References(s): PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681


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