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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NOTCH4 and arteriovenous malformations of the brain in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Murphy PA, etal., Lab Invest. 2009 Sep;89(9):971-82. Epub 2009 Jun 22.
  • The annotation has been inferred from sequence orthology with Notch4 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Murphy PA, etal., Lab Invest. 2009 Sep;89(9):971-82. Epub 2009 Jun 22.
  • 35 RGD objects have been annotated to arteriovenous malformations of the brain  (DOID:0060688)
  • 24 papers in RGD have been used to annotate NOTCH4


    • An association has been curated linking NOTCH4 and arteriovenous malformations of the brain in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Notch4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to arteriovenous malformations of the brain  (DOID:0060688)
  • 24 papers in RGD have been used to annotate NOTCH4
  • Curation Notes: OMIM:108010


    • An association has been curated linking NOTCH4 and arteriovenous malformations of the brain 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:156132114 (Homo sapiens)
  • 35 RGD objects have been annotated to arteriovenous malformations of the brain  (DOID:0060688)
  • 24 papers in RGD have been used to annotate NOTCH4
  • Curation Notes: ClinVar Annotator: match by term: Cerebral arteriovenous malformation
  • Original References(s): PMID:25741868 PMID:27231971


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