Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking OPA1 and isolated elevated serum creatine phosphokinase levels in Canis lupus familiaris.        

  • 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 OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to isolated elevated serum creatine phosphokinase levels  (DOID:0111338)
  • 0 papers in RGD have been used to annotate OPA1
  • Curation Notes: ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
  • Original References(s): PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654


  • Go Back to source page   Continue to Ontology report