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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pcx and pyruvate carboxylase deficiency disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Carbone MA, etal., Am J Hum Genet 1998 Jun;62(6):1312-9.
  • The annotation has been inferred from sequence orthology with PC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Carbone MA, etal., Am J Hum Genet 1998 Jun;62(6):1312-9.
  • 2 RGD objects have been annotated to pyruvate carboxylase deficiency disease  (DOID:3651)
  • 16 papers in RGD have been used to annotate Pcx
  • Curation Notes: DNA:missense mutations:cds:p.A650T, p.M743I (human)


    • An association has been curated linking Pcx and pyruvate carboxylase deficiency disease in Mus musculus.        

  • 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 PC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate carboxylase deficiency disease  (DOID:3651)
  • 16 papers in RGD have been used to annotate Pcx


    • An association has been curated linking Pcx and pyruvate carboxylase deficiency disease in Mus musculus.        

  • 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 PC (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to pyruvate carboxylase deficiency disease  (DOID:3651)
  • 16 papers in RGD have been used to annotate Pcx
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pcx and pyruvate carboxylase deficiency disease in Mus musculus.        

  • 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 PC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate carboxylase deficiency disease  (DOID:3651)
  • 16 papers in RGD have been used to annotate Pcx
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
  • Original References(s): PMID:12112657 PMID:16199547 PMID:17576681 PMID:18676167 PMID:19306334 PMID:23430542 PMID:23973720 PMID:25058219 PMID:25741868 PMID:27290639 PMID:28492532 PMID:28649521 PMID:28831725 PMID:30045381 PMID:30870574 PMID:32581362 PMID:32901917 PMID:35782291 PMID:37207470 PMID:9536098 PMID:9585002 PMID:9585612


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