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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CACNA1A and Marshall-Smith syndrome in Canis lupus familiaris.        

  • 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 CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Marshall-Smith syndrome  (DOID:0050858)
  • 0 papers in RGD have been used to annotate CACNA1A
  • Curation Notes: ClinVar Annotator: match by term: Marshall-Smith syndrome
  • Original References(s): PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 PMID:27688808 PMID:28492532 PMID:29184170


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