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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Dnajb2 and autosomal recessive distal hereditary motor neuronopathy 2 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 DNAJB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 46 RGD objects have been annotated to autosomal recessive distal hereditary motor neuronopathy 2  (DOID:0111065)
  • 2 papers in RGD have been used to annotate Dnajb2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2
  • Original References(s): PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532


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