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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking BSCL2 and hereditary spastic paraplegia in Pan paniscus.        

  • 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 BSCL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 451 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 0 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:1674639 PMID:17387721 PMID:18585921 PMID:18690553 PMID:18790819 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:24345054 PMID:25219579 PMID:25454168 PMID:25588603 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:31824185 PMID:32320108 PMID:35351089 PMID:5964029


    • An association has been curated linking BSCL2 and hereditary spastic paraplegia in Pan paniscus.        

  • 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 BSCL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 451 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 0 papers in RGD have been used to annotate BSCL2
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:11479539 PMID:14981520 PMID:15732094 PMID:16427281 PMID:16574104 PMID:1674639 PMID:17387721 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:24345054 PMID:25219579 PMID:25454168 PMID:25588603 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 PMID:28832565 PMID:30004997 PMID:5964029


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