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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Prrt2 and Familial Infantile Convulsions and Paroxysmal Choreoathetosis 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 PRRT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Familial Infantile Convulsions and Paroxysmal Choreoathetosis  (DOID:9007283)
  • 5 papers in RGD have been used to annotate Prrt2


  • An association has been curated linking Prrt2 and Familial Infantile Convulsions and Paroxysmal Choreoathetosis 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 PRRT2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Familial Infantile Convulsions and Paroxysmal Choreoathetosis  (DOID:9007283)
  • 5 papers in RGD have been used to annotate Prrt2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Prrt2 and Familial Infantile Convulsions and Paroxysmal Choreoathetosis 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 PRRT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Familial Infantile Convulsions and Paroxysmal Choreoathetosis  (DOID:9007283)
  • 5 papers in RGD have been used to annotate Prrt2
  • Curation Notes: ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
  • Original References(s): PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23529024 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24594579 PMID:24755245 PMID:24828792 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26935445 PMID:26936445 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29334453 PMID:30980674 PMID:31124310 PMID:31722684 PMID:33126486 PMID:33661484 PMID:34782754


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