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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Plekhm1 and autosomal recessive osteopetrosis 6 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 PLEKHM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive osteopetrosis 6  (DOID:0110945)
  • 4 papers in RGD have been used to annotate Plekhm1


    • An association has been curated linking Plekhm1 and autosomal recessive osteopetrosis 6 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]
  • 1 RGD objects have been annotated to autosomal recessive osteopetrosis 6  (DOID:0110945)
  • 4 papers in RGD have been used to annotate Plekhm1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6
  • Original References(s): PMID:17404618 PMID:25741868


    • An association has been curated linking Plekhm1 and autosomal recessive osteopetrosis 6 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Plekhm1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive osteopetrosis 6  (DOID:0110945)
  • 4 papers in RGD have been used to annotate Plekhm1
  • Curation Notes: OMIM:611497


    • An association has been curated linking Plekhm1 and autosomal recessive osteopetrosis 6 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 PLEKHM1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to autosomal recessive osteopetrosis 6  (DOID:0110945)
  • 4 papers in RGD have been used to annotate Plekhm1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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