Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sacs and autosomal recessive limb-girdle muscular dystrophy type 2C in Chinchilla lanigera.        

  • 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 SACS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2C  (DOID:0110277)
  • 2 papers in RGD have been used to annotate Sacs
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C
  • Original References(s): PMID:18285821 PMID:18398442 PMID:18414213 PMID:19031088 PMID:19208398 PMID:24033266 PMID:24180463 PMID:25741868 PMID:26467025 PMID:28492532


  • Go Back to source page   Continue to Ontology report