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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mks1 and microcephaly in Mus musculus.        

  • 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 MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1149 RGD objects have been annotated to microcephaly  (DOID:10907)
  • 10 papers in RGD have been used to annotate Mks1
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly
  • Original References(s): PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783


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