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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Rfc1 and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome in Mus musculus.        

  • 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 RFC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  (DOID:9009139)
  • 20 papers in RGD have been used to annotate Rfc1


    • An association has been curated linking Rfc1 and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome in Mus musculus.        

  • 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 RFC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  (DOID:9009139)
  • 20 papers in RGD have been used to annotate Rfc1
  • Curation Notes: ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
  • Original References(s): PMID:25741868 PMID:35883251 PMID:36478048


    • An association has been curated linking Rfc1 and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cortese A, etal., Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
  • The annotation has been inferred from sequence orthology with RFC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cortese A, etal., Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
  • 2 RGD objects have been annotated to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  (DOID:9009139)
  • 20 papers in RGD have been used to annotate Rfc1
  • Curation Notes: DNA:repeat:intron:


    • An association has been curated linking Rfc1 and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cortese A, etal., Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
  • The annotation has been inferred from sequence orthology with RFC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cortese A, etal., Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
  • 2 RGD objects have been annotated to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  (DOID:9009139)
  • 20 papers in RGD have been used to annotate Rfc1
  • Curation Notes: DNA:repeat:intron:


    • An association has been curated linking Rfc1 and Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schmitt GDS, etal., Clin Neurophysiol. 2022 Oct;142:68-74. doi: 10.1016/j.clinph.2022.07.501. Epub 2022 Aug 4.
  • The annotation has been inferred from sequence orthology with RFC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Schmitt GDS, etal., Clin Neurophysiol. 2022 Oct;142:68-74. doi: 10.1016/j.clinph.2022.07.501. Epub 2022 Aug 4.
  • 2 RGD objects have been annotated to Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome  (DOID:9009139)
  • 20 papers in RGD have been used to annotate Rfc1
  • Curation Notes: DNA:repeats:intron:(AAGGG)n (human)


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