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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ASTN2 and autosomal recessive limb-girdle muscular dystrophy type 2H 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 ASTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2H  (DOID:0110282)
  • 0 papers in RGD have been used to annotate ASTN2
  • Curation Notes: ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition
  • Original References(s): PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:19492423 PMID:21775502 PMID:22025579 PMID:22626039 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:25741913 PMID:26467025 PMID:27491411 PMID:28492532 PMID:28812413 PMID:29921608 PMID:30564623 PMID:30823891 PMID:31624253 PMID:32419263 PMID:32528171 PMID:33296226 PMID:4269389


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