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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Atp1a1 and Charcot-Marie-Tooth disease type 2DD in Chinchilla lanigera.        

  • 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 ATP1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2DD  (DOID:0111558)
  • 1 papers in RGD have been used to annotate Atp1a1


    • An association has been curated linking Atp1a1 and Charcot-Marie-Tooth disease type 2DD in Chinchilla lanigera.        

  • 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 ATP1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2DD  (DOID:0111558)
  • 1 papers in RGD have been used to annotate Atp1a1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD
  • Original References(s): PMID:21208200 PMID:21494555 PMID:25741868 PMID:28492532 PMID:29499166 PMID:30388404 PMID:31705535 PMID:31707753 PMID:7977350 PMID:8526465 PMID:8981948


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