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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CACNA1A and Gait ataxia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13673979 (Homo sapiens)
  • 261 RGD objects have been annotated to Gait ataxia  (HP:0002066)
  • 18 papers in RGD have been used to annotate CACNA1A
  • Curation Notes: ClinVar Annotator: match by term: Gait ataxia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:26912519 PMID:27066515 PMID:28444220 PMID:28492532 PMID:30142438 PMID:31654490 PMID:34806130 PMID:35401678 PMID:35722745 PMID:37555011


    • An association has been curated linking CACNA1A and Gait ataxia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 261 RGD objects have been annotated to Gait ataxia  (HP:0002066)
  • 18 papers in RGD have been used to annotate CACNA1A
  • Original References(s): ORPHA:98758


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