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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC12A9 and Capillary Malformation-Arteriovenous Malformation 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13827425 (Homo sapiens)
  • 3 RGD objects have been annotated to Capillary Malformation-Arteriovenous Malformation 2  (DOID:9002861)
  • 1 papers in RGD have been used to annotate SLC12A9
  • Curation Notes: ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
  • Original References(s): PMID:28687708


    • An association has been curated linking SLC12A9 and Capillary Malformation-Arteriovenous Malformation 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21405463 (Homo sapiens)
  • 3 RGD objects have been annotated to Capillary Malformation-Arteriovenous Malformation 2  (DOID:9002861)
  • 1 papers in RGD have been used to annotate SLC12A9
  • Curation Notes: ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
  • Original References(s): PMID:25741868 PMID:28492532


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