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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cacna1a and Developmental Disabilities 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 CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 369 RGD objects have been annotated to Developmental Disabilities  (DOID:9008086)
  • 22 papers in RGD have been used to annotate Cacna1a
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-10-08 13:06:16.0 by RGD . For more information contact us

    An association has been curated linking Cacna1a and Developmental Disabilities 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 CACNA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 369 RGD objects have been annotated to Developmental Disabilities  (DOID:9008086)
  • 22 papers in RGD have been used to annotate Cacna1a
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:16325861, PMID:16787562, PMID:18354422, PMID:20301674, PMID:24486772, PMID:25326635, PMID:25481746, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28742085

  • This annotation was curated on 2019-10-08 13:04:52.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.