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 Pomt2 and autosomal recessive limb-girdle muscular dystrophy 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 0 papers in RGD have been used to annotate Pomt2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
  • Original References(s): PMID:15894594 PMID:18414213 PMID:24183756 PMID:25741868 PMID:27457812 PMID:27854218 PMID:28492532 PMID:29175898 PMID:30060766 PMID:31127727 PMID:32528171 PMID:33124102 PMID:33200426 PMID:34413876


  • Go Back to source page   Continue to Ontology report