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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Actn2 and familial hypertrophic cardiomyopathy 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 ACTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 138 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 15 papers in RGD have been used to annotate Actn2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 PMID:20022194 PMID:20474083 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24503780 PMID:25179549 PMID:25224718 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26084686 PMID:26498160 PMID:26573135 PMID:26688388 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27600370 PMID:27707468 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28123168 PMID:28301460 PMID:28492532 PMID:28640247 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28986455 PMID:29247119 PMID:29386531 PMID:29760345 PMID:29773157 PMID:29892087 PMID:29915097 PMID:30086531 PMID:30615648 PMID:30775854 PMID:30847666 PMID:30959811 PMID:31110529 PMID:31333075 PMID:31506931 PMID:31513939 PMID:31568572 PMID:31737537 PMID:31956495 PMID:31983221 PMID:32746448 PMID:32826072 PMID:32880476 PMID:32931854 PMID:33500567 PMID:34471957 PMID:34598319 PMID:34935411 PMID:35026164 PMID:35063694 PMID:35656879 PMID:35975100 PMID:36005429 PMID:36252119 PMID:37477868 PMID:37834023 PMID:37904629 PMID:38296580 PMID:38311799 PMID:9536098


    • An association has been curated linking Actn2 and familial hypertrophic cardiomyopathy 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 ACTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 138 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 15 papers in RGD have been used to annotate Actn2
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy, idiopathic dilated, mitochondrial | ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:14567970 PMID:16199547 PMID:17097056 PMID:17576681 PMID:20022194 PMID:20474083 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24503780 PMID:25179549 PMID:25224718 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26084686 PMID:26498160 PMID:26573135 PMID:26688388 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27600370 PMID:27707468 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28123168 PMID:28301460 PMID:28492532 PMID:28640247 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28986455 PMID:29247119 PMID:29386531 PMID:29760345 PMID:29773157 PMID:29892087 PMID:29915097 PMID:30086531 PMID:30615648 PMID:30775854 PMID:30847666 PMID:30959811 PMID:31110529 PMID:31333075 PMID:31506931 PMID:31513939 PMID:31568572 PMID:31737537 PMID:31956495 PMID:31983221 PMID:32746448 PMID:32826072 PMID:32880476 PMID:32931854 PMID:33500567 PMID:34471957 PMID:34598319 PMID:34935411 PMID:35026164 PMID:35063694 PMID:35656879 PMID:35975100 PMID:36005429 PMID:36252119 PMID:37477868 PMID:37904629 PMID:38296580 PMID:38311799 PMID:9536098


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