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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Bscl2 and Distal Hereditary Motor Neuronopathy Type 5C in Rattus norvegicus.        

  • 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 BSCL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Distal Hereditary Motor Neuronopathy Type 5C  (DOID:9006235)
  • 13 papers in RGD have been used to annotate Bscl2


    • An association has been curated linking Bscl2 and Distal Hereditary Motor Neuronopathy Type 5C in Rattus norvegicus.        

  • 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]
  • 1 RGD objects have been annotated to Distal Hereditary Motor Neuronopathy Type 5C  (DOID:9006235)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
  • Original References(s): 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:24345054 PMID:25219579 PMID:25454168 PMID:25741868 PMID:26467025 PMID:28492532 PMID:5964029


    • An association has been curated linking Bscl2 and Distal Hereditary Motor Neuronopathy Type 5C in Rattus norvegicus.        

  • 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]
  • 1 RGD objects have been annotated to Distal Hereditary Motor Neuronopathy Type 5C  (DOID:9006235)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
  • Original References(s): PMID:23142943 PMID:28492532


    • An association has been curated linking Bscl2 and Distal Hereditary Motor Neuronopathy Type 5C in Rattus norvegicus.        

  • 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]
  • 1 RGD objects have been annotated to Distal Hereditary Motor Neuronopathy Type 5C  (DOID:9006235)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
  • Original References(s): PMID:14981520 PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:24604904 PMID:25487175 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473


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