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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Popdc1 and autosomal recessive limb-girdle muscular dystrophy type 2X in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with POPDC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2X  (DOID:0110290)
  • 4 papers in RGD have been used to annotate Popdc1


    • An association has been curated linking Popdc1 and autosomal recessive limb-girdle muscular dystrophy type 2X in Rattus norvegicus.        

  • 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 POPDC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2X  (DOID:0110290)
  • 4 papers in RGD have been used to annotate Popdc1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: BVES-related condition
  • Original References(s): PMID:25741868 PMID:26642364 PMID:28492532 PMID:31119192 PMID:35660068


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