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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Eef2kmt and congenital disorder of glycosylation Ik 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 EEF2KMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital disorder of glycosylation Ik  (DOID:0080563)
  • 2 papers in RGD have been used to annotate Eef2kmt
  • Curation Notes: ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K
  • Original References(s): PMID:14709599 PMID:14973778 PMID:14973782 PMID:17576681 PMID:20679665 PMID:22966035 PMID:23806237 PMID:24157261 PMID:25741868 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 PMID:34567092 PMID:9536098


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