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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking IGHMBP2 and Muscle Weakness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12741893 (Homo sapiens)
  • 396 RGD objects have been annotated to Muscle Weakness  (DOID:9005532)
  • 6 papers in RGD have been used to annotate IGHMBP2
  • Curation Notes: ClinVar Annotator: match by term: Progressive muscle weakness
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking IGHMBP2 and Muscle Weakness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12739007 (Homo sapiens)
  • 396 RGD objects have been annotated to Muscle Weakness  (DOID:9005532)
  • 6 papers in RGD have been used to annotate IGHMBP2
  • Curation Notes: ClinVar Annotator: match by term: Progressive muscle weakness
  • Original References(s): PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:25741915 PMID:28492532


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