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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PRKAG2 and hypertrophic cardiomyopathy 1 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 PRKAG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 58 RGD objects have been annotated to hypertrophic cardiomyopathy 1  (DOID:0110307)
  • 0 papers in RGD have been used to annotate PRKAG2
  • Curation Notes: ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
  • Original References(s): PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 PMID:11827995 PMID:12015471 PMID:12397075 PMID:12546691 PMID:12716108 PMID:14519435 PMID:14691231 PMID:14722619 PMID:15611370 PMID:15673802 PMID:15766830 PMID:15877279 PMID:16051890 PMID:16275868 PMID:16686673 PMID:16836667 PMID:17483151 PMID:17667862 PMID:17711718 PMID:17878938 PMID:19808419 PMID:20031621 PMID:20381067 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:25741868 PMID:25997934 PMID:27532257 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29298659 PMID:30847666 PMID:31513939 PMID:31527676 PMID:31737537 PMID:32681253 PMID:32746448 PMID:33029862 PMID:33244021 PMID:33673806 PMID:33762593 PMID:33895855


  • An association has been curated linking PRKAG2 and hypertrophic cardiomyopathy 1 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 PRKAG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 58 RGD objects have been annotated to hypertrophic cardiomyopathy 1  (DOID:0110307)
  • 0 papers in RGD have been used to annotate PRKAG2
  • Curation Notes: ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis
  • Original References(s): PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 PMID:11827995 PMID:12015471 PMID:12397075 PMID:12546691 PMID:12716108 PMID:14519435 PMID:14691231 PMID:14722619 PMID:15611370 PMID:15673802 PMID:15766830 PMID:15877279 PMID:16051890 PMID:16275868 PMID:16686673 PMID:16836667 PMID:17483151 PMID:17667862 PMID:17711718 PMID:17878938 PMID:19808419 PMID:20031621 PMID:20381067 PMID:20888928 PMID:23778007 PMID:23829931 PMID:23992123 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25997934 PMID:27532257 PMID:28341588 PMID:28431061 PMID:28492532 PMID:28917552 PMID:29298659 PMID:30847666 PMID:31513939 PMID:31527676 PMID:31737537 PMID:32681253 PMID:32746448 PMID:33244021 PMID:33673806 PMID:33762593


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