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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SPTAN1 and developmental and epileptic encephalopathy 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 SPTAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 994 RGD objects have been annotated to developmental and epileptic encephalopathy  (DOID:0112202)
  • 0 papers in RGD have been used to annotate SPTAN1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:20228407 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:28199897 PMID:28379358 PMID:28492532 PMID:29050398 PMID:29358611 PMID:29655203 PMID:31332438 PMID:31452935 PMID:31515523 PMID:31785789 PMID:33206935 PMID:33578420 PMID:34556655 PMID:34590414 PMID:35150594 PMID:36331550 PMID:9536098


    • An association has been curated linking SPTAN1 and developmental and epileptic encephalopathy 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 SPTAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 994 RGD objects have been annotated to developmental and epileptic encephalopathy  (DOID:0112202)
  • 0 papers in RGD have been used to annotate SPTAN1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:20228407 PMID:22258530 PMID:22368301 PMID:22722545 PMID:24183449 PMID:24183451 PMID:25224718 PMID:25640679 PMID:25658047 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:28199897 PMID:28379358 PMID:28492532 PMID:29050398 PMID:29358611 PMID:29655203 PMID:31069529 PMID:31332438 PMID:31452935 PMID:31515523 PMID:31785789 PMID:32811770 PMID:33206935 PMID:33578420 PMID:34489640 PMID:34556655 PMID:34590414 PMID:34653234 PMID:35150594 PMID:36331550 PMID:9536098


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