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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FRRS1L and developmental and epileptic encephalopathy 37 in Pan paniscus.        

  • 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 FRRS1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to developmental and epileptic encephalopathy 37  (DOID:0080435)
  • 0 papers in RGD have been used to annotate FRRS1L


    • An association has been curated linking FRRS1L and developmental and epileptic encephalopathy 37 in Pan paniscus.        

  • 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 FRRS1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to developmental and epileptic encephalopathy 37  (DOID:0080435)
  • 0 papers in RGD have been used to annotate FRRS1L
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21147040 PMID:22406018 PMID:25741868 PMID:25741916 PMID:27236917 PMID:27239025 PMID:28492532 PMID:28675162 PMID:30525197 PMID:30692144 PMID:32860008 PMID:32928027 PMID:9536098


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