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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Plec and autosomal recessive limb-girdle muscular dystrophy type 2Q 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 PLEC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2Q  (DOID:0110285)
  • 17 papers in RGD have been used to annotate Plec


    • An association has been curated linking Plec and autosomal recessive limb-girdle muscular dystrophy type 2Q 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 PLEC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2Q  (DOID:0110285)
  • 17 papers in RGD have been used to annotate Plec
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
  • Original References(s): PMID:10652002 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:21263134 PMID:22854623 PMID:23289980 PMID:23757202 PMID:23774525 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28447722 PMID:28492532 PMID:28824526 PMID:29453417 PMID:30919572 PMID:31230720 PMID:31319225 PMID:32017015 PMID:32576226 PMID:34572129 PMID:9536098


    • An association has been curated linking Plec and autosomal recessive limb-girdle muscular dystrophy type 2Q 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 PLEC (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2Q  (DOID:0110285)
  • 17 papers in RGD have been used to annotate Plec
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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