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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cav3 and isolated elevated serum creatine phosphokinase levels in Heterocephalus glaber.        

  • 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 CAV3 (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 Cav3


    • An association has been curated linking Cav3 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 CAV3 (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 Cav3
  • Curation Notes: ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
  • Original References(s): PMID:09536092 PMID:10227634 PMID:10746614 PMID:11001938 PMID:11251997 PMID:11353417 PMID:11431690 PMID:1146501 PMID:11756609 PMID:11805270 PMID:11884389 PMID:12082049 PMID:12269726 PMID:12666119 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14663034 PMID:14749532 PMID:15318349 PMID:15564037 PMID:15580566 PMID:15668980 PMID:16723230 PMID:16730439 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17576681 PMID:17897828 PMID:17994539 PMID:18487559 PMID:18509671 PMID:18583131 PMID:18930476 PMID:19380584 PMID:19584897 PMID:19697367 PMID:20229577 PMID:20472890 PMID:21294223 PMID:21404291 PMID:21610159 PMID:21660982 PMID:22976939 PMID:23465283 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25630502 PMID:25741868 PMID:26185955 PMID:26404900 PMID:26467025 PMID:26498160 PMID:26947586 PMID:27184587 PMID:27483260 PMID:27930701 PMID:28492532 PMID:28807458 PMID:28837624 PMID:28877744 PMID:28981925 PMID:29961767 PMID:30055862 PMID:30174172 PMID:30723005 PMID:30847666 PMID:31036801 PMID:32419263 PMID:32528171 PMID:35026164 PMID:9536092 PMID:9536098


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