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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Plekhm1 and autosomal recessive osteopetrosis 1 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 PLEKHM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to autosomal recessive osteopetrosis 1  (DOID:0110942)
  • 4 papers in RGD have been used to annotate Plekhm1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1
  • Original References(s): PMID:35342016 PMID:36195244


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