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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ankle2 and primary autosomal recessive microcephaly 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ANKLE2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 16  (DOID:0070289)
  • 5 papers in RGD have been used to annotate Ankle2


  • An association has been curated linking Ankle2 and primary autosomal recessive microcephaly 16 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 ANKLE2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 16  (DOID:0070289)
  • 5 papers in RGD have been used to annotate Ankle2
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive
  • Original References(s): PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 PMID:31735666 PMID:35871307


  • An association has been curated linking Ankle2 and primary autosomal recessive microcephaly 16 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 ANKLE2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 16  (DOID:0070289)
  • 5 papers in RGD have been used to annotate Ankle2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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