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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pmpcb and multiple mitochondrial dysfunctions syndrome 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 PMPCB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multiple mitochondrial dysfunctions syndrome 6  (DOID:0070332)
  • 14 papers in RGD have been used to annotate Pmpcb
  • Curation Notes: ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
  • Original References(s): PMID:29576218


  • An association has been curated linking Pmpcb and multiple mitochondrial dysfunctions syndrome 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 PMPCB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multiple mitochondrial dysfunctions syndrome 6  (DOID:0070332)
  • 14 papers in RGD have been used to annotate Pmpcb


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.