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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pomk and muscular dystrophy-dystroglycanopathy type C12 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 POMK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type C12  (DOID:0112381)
  • 5 papers in RGD have been used to annotate Pomk


    • An association has been curated linking Pomk and muscular dystrophy-dystroglycanopathy type C12 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with POMK (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type C12  (DOID:0112381)
  • 5 papers in RGD have been used to annotate Pomk
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pomk and muscular dystrophy-dystroglycanopathy type C12 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 POMK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type C12  (DOID:0112381)
  • 5 papers in RGD have been used to annotate Pomk
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
  • Original References(s): PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 PMID:30060766


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