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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CAPN1 and hereditary spastic paraplegia 76 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 CAPN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 76  (DOID:0110821)
  • 0 papers in RGD have been used to annotate CAPN1


    • An association has been curated linking CAPN1 and hereditary spastic paraplegia 76 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 CAPN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 76  (DOID:0110821)
  • 0 papers in RGD have been used to annotate CAPN1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition
  • Original References(s): PMID:16199547 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 PMID:28492532 PMID:28566166 PMID:29379883 PMID:30198554 PMID:31345219 PMID:32214227 PMID:32352326 PMID:32860008 PMID:33486633 PMID:34234304 PMID:36530930 PMID:37273706 PMID:9536098


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