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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Rasa1 and Capillary Malformation-Arteriovenous Malformation in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Eerola I, etal., Am J Hum Genet 2003 Dec;73(6):1240-9.
  • The annotation has been inferred from sequence orthology with RASA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Eerola I, etal., Am J Hum Genet 2003 Dec;73(6):1240-9.
  • 7 RGD objects have been annotated to Capillary Malformation-Arteriovenous Malformation  (DOID:9005469)
  • 31 papers in RGD have been used to annotate Rasa1
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Rasa1 and Capillary Malformation-Arteriovenous Malformation 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 RASA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to Capillary Malformation-Arteriovenous Malformation  (DOID:9005469)
  • 31 papers in RGD have been used to annotate Rasa1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Rasa1 and Capillary Malformation-Arteriovenous Malformation 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 RASA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Capillary Malformation-Arteriovenous Malformation  (DOID:9005469)
  • 31 papers in RGD have been used to annotate Rasa1
  • Curation Notes: ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
  • Original References(s): PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 PMID:9219684 PMID:9536098


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