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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11814737 PMID:25288807


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8616699 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:22154554


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8616697 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:9012407


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560461 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:15483648 PMID:9012407


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560463 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:15329070 PMID:15483648


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8616696 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:11814737


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13610225 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10395910 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:15483648 PMID:17003839 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:8596935 PMID:9012407


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13822423 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:25741868 PMID:28492532 PMID:8596935


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560459 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:17003839 PMID:23205931 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32581362 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9360639


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560460 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:8596935 PMID:9054946 PMID:9342192


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Cstb (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10395907|RGD:12845059|RGD:28887939|RGD:28900977 (Homo sapiens) & RGD:10395907|RGD:12845059|RGD:28887939|RGD:28900977 (Homo sapiens) & RGD:10395907|RGD:12845059|RGD:28887939|RGD:28900977 (Homo sapiens) & RGD:10395907|RGD:12845059|RGD:28887939|RGD:28900977 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13806059|RGD:8690786 (Homo sapiens) & RGD:13806059|RGD:8690786 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10050607|RGD:8659384 (Homo sapiens) & RGD:10050607|RGD:8659384 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking CSTB and Unverricht-Lundborg syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens) & RGD:10450003|RGD:10450043|RGD:11620003|RGD:11624637|RGD:11627014|RGD:11627613|RGD:11627910|RGD:11628249|RGD:11628482|RGD:11630245|RGD:11632017|RGD:11656202|RGD:11656875|RGD:11662202|RGD:13539183|RGD:28889051|RGD:28896154|RGD:28896156|RGD:28896160|RGD:28896165|RGD:8616695 (Homo sapiens)
  • 13 RGD objects have been annotated to Unverricht-Lundborg syndrome  (DOID:3535)
  • 7 papers in RGD have been used to annotate CSTB
  • Curation Notes: ClinVar Annotator: match by term: Unverricht-Lundborg syndrome


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