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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Aspm and primary autosomal recessive microcephaly 5 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 ASPM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to primary autosomal recessive microcephaly 5  (DOID:0070280)
  • 15 papers in RGD have been used to annotate Aspm


  • An association has been curated linking Aspm and primary autosomal recessive microcephaly 5 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 ASPM (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to primary autosomal recessive microcephaly 5  (DOID:0070280)
  • 15 papers in RGD have been used to annotate Aspm
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Aspm and primary autosomal recessive microcephaly 5 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 ASPM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to primary autosomal recessive microcephaly 5  (DOID:0070280)
  • 15 papers in RGD have been used to annotate Aspm
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
  • Original References(s): PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 PMID:16141009 PMID:16199547 PMID:16673149 PMID:17576681 PMID:17849285 PMID:18414213 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19353628 PMID:19770472 PMID:20301772 PMID:20679666 PMID:20978018 PMID:22823409 PMID:22989186 PMID:23611254 PMID:24033266 PMID:25480035 PMID:25525159 PMID:25741868 PMID:25786579 PMID:26467025 PMID:26548919 PMID:26663670 PMID:26691732 PMID:26846091 PMID:27250695 PMID:28004384 PMID:28492532 PMID:28554332 PMID:29243349 PMID:29388391 PMID:29522511 PMID:29644084 PMID:29706646 PMID:30167849 PMID:30842647 PMID:31680123 PMID:31696992 PMID:31853109 PMID:31934343 PMID:31980526 PMID:32404165 PMID:32677750 PMID:33255631 PMID:34402213 PMID:9536098


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