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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mdh2 and developmental and epileptic encephalopathy 51 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 MDH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 24 papers in RGD have been used to annotate Mdh2


  • An association has been curated linking Mdh2 and developmental and epileptic encephalopathy 51 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 MDH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 51  (DOID:0080433)
  • 24 papers in RGD have been used to annotate Mdh2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related condition
  • Original References(s): PMID:17576681 PMID:25741868 PMID:27989324 PMID:28492532 PMID:30008476 PMID:34712577 PMID:34718610 PMID:36420423 PMID:9536098


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