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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gdap1 and isolated elevated serum creatine phosphokinase levels in Heterocephalus glaber.        

  • 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 GDAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to isolated elevated serum creatine phosphokinase levels  (DOID:0111338)
  • 0 papers in RGD have been used to annotate Gdap1
  • Curation Notes: ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
  • Original References(s): PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301711 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33477664 PMID:35662277 PMID:36140714


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