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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Vhl and congenital myasthenic syndrome 6 in Ictidomys tridecemlineatus.        

  • 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 VHL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to congenital myasthenic syndrome 6  (DOID:0110671)
  • 0 papers in RGD have been used to annotate Vhl
  • Curation Notes: ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
  • Original References(s): PMID:10567493 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:15300849 PMID:18446368 PMID:19270817 PMID:20120764 PMID:21362373 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25157968 PMID:25720320 PMID:25741868 PMID:25867206 PMID:27527340 PMID:27617348 PMID:28492532 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:9829911 PMID:9829912


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