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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ASPM and primary autosomal recessive microcephaly in Pan paniscus.        

  • 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]
  • 34 RGD objects have been annotated to primary autosomal recessive microcephaly  (DOID:0070296)
  • 0 papers in RGD have been used to annotate ASPM
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
  • Original References(s): PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30842647 PMID:31980526


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