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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TECPR2 and hereditary spastic paraplegia 49 in Sus scrofa.        

  • 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 TECPR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 49  (DOID:0110801)
  • 0 papers in RGD have been used to annotate TECPR2


  • An association has been curated linking TECPR2 and hereditary spastic paraplegia 49 in Sus scrofa.        

  • 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 TECPR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hereditary spastic paraplegia 49  (DOID:0110801)
  • 0 papers in RGD have been used to annotate TECPR2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY
  • Original References(s): PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 PMID:26542466 PMID:27406698 PMID:28492532 PMID:28940097 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 PMID:34994087 PMID:9536098


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