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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Prrt2 and episodic kinesigenic dyskinesia 1 in Mus musculus.        

  • 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]
  • 24 RGD objects have been annotated to episodic kinesigenic dyskinesia 1  (DOID:0090053)
  • 4 papers in RGD have been used to annotate Prrt2


    • An association has been curated linking Prrt2 and episodic kinesigenic dyskinesia 1 in Mus musculus.        

  • 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]
  • 24 RGD objects have been annotated to episodic kinesigenic dyskinesia 1  (DOID:0090053)
  • 4 papers in RGD have been used to annotate Prrt2
  • Curation Notes: ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Familial paroxysmal dystonia | ClinVar Annotator: match by term: Paroxysmal kinesigenic choreoathetosis | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia
  • Original References(s): PMID:11179027 PMID:11346027 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19914906 PMID:20301633 PMID:2131349 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22902309 PMID:23063574 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23436308 PMID:23456995 PMID:23496026 PMID:23529024 PMID:23551744 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24101679 PMID:24370076 PMID:24372385 PMID:24465263 PMID:24594579 PMID:24609974 PMID:24755245 PMID:24811917 PMID:24828792 PMID:24886244 PMID:25167861 PMID:25421402 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26629640 PMID:26742926 PMID:26867511 PMID:26935445 PMID:26936445 PMID:26944167 PMID:27123484 PMID:27172900 PMID:27173777 PMID:27624551 PMID:28074849 PMID:28492532 PMID:28525812 PMID:28906077 PMID:29132464 PMID:29167286 PMID:29215089 PMID:29334453 PMID:29655203 PMID:29801903 PMID:30198221 PMID:30386286 PMID:30392205 PMID:30980674 PMID:31124310 PMID:31130284 PMID:31154286 PMID:31302675 PMID:31589614 PMID:31722684 PMID:31801583 PMID:31901402 PMID:32346475 PMID:32392383 PMID:32651081 PMID:32906206 PMID:33126486 PMID:33550051 PMID:33661484 PMID:34041212 PMID:34298454 PMID:34298581 PMID:34649875 PMID:34782754 PMID:34825340 PMID:35083789 PMID:9536098


    • An association has been curated linking Prrt2 and episodic kinesigenic dyskinesia 1 in Mus musculus.        

  • 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]
  • 24 RGD objects have been annotated to episodic kinesigenic dyskinesia 1  (DOID:0090053)
  • 4 papers in RGD have been used to annotate Prrt2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22101681


    • An association has been curated linking Prrt2 and episodic kinesigenic dyskinesia 1 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 24 RGD objects have been annotated to episodic kinesigenic dyskinesia 1  (DOID:0090053)
  • 4 papers in RGD have been used to annotate Prrt2
  • Curation Notes: OMIM:128200


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