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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:8558638 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:20942659


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:8639117 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:22247256


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 2 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:155796739 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:28492532 PMID:32041611


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:152076579|RGD:405230627 (Homo sapiens) & RGD:152076579|RGD:405230627 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: ANGPTL3-related condition | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:28492532


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:155796775 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:22247256 PMID:25741868 PMID:28492532


    • An association has been curated linking ANGPTL3 and familial hypobetalipoproteinemia 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:8639113|RGD:8639114 (Homo sapiens) & RGD:8639113|RGD:8639114 (Homo sapiens)
  • 3 RGD objects have been annotated to familial hypobetalipoproteinemia 2  (DOID:0111061)
  • 8 papers in RGD have been used to annotate ANGPTL3
  • Curation Notes: ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2
  • Original References(s): PMID:19075393 PMID:22062970


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