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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kcnma1 and CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 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 KCNMA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  (DOID:9003251)
  • 38 papers in RGD have been used to annotate Kcnma1


    • An association has been curated linking Kcnma1 and CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 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 KCNMA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  (DOID:9003251)
  • 38 papers in RGD have been used to annotate Kcnma1
  • Curation Notes: ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
  • Original References(s): PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 PMID:34224328 PMID:9536098


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