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GENE - TERM ANNOTATION REPORT

45 Annotations Found.

An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:11281275


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:20430833, PMID:24753243


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:24033266


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:11246459


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:10585338


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:10407773, PMID:9732974


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407
  • Original References(s): PMID:17696123, PMID:9235905


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
  • Original References(s): PMID:25741868, PMID:26467025


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:18554280, PMID:25741868, PMID:26467025


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:25741868


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
  • Original References(s): PMID:12610512, PMID:25741868, PMID:26467025


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:22264700, PMID:24753243, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TH (Homo sapiens) [(EXP) inferred from experiment]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:8528210, PMID:8817341


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:11160968, PMID:12891655, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by OMIM:605407


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:17696123, PMID:17698383, PMID:22815559, PMID:25910213, PMID:28492532, PMID:9235905


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:10407773, PMID:28492532, PMID:7814018, PMID:8528210


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:11160968, PMID:15505183, PMID:15747353, PMID:23939262, PMID:24753243, PMID:25741868, PMID:27185167, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:10407773, PMID:20430833, PMID:20492352, PMID:20823027, PMID:21937992, PMID:23480488, PMID:24753243, PMID:25224241, PMID:25741868, PMID:26276013, PMID:28492532, PMID:30311386, PMID:9703425, PMID:9732974


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:10407773, PMID:12891655, PMID:19282209, PMID:2019643, PMID:20198643, PMID:20430833, PMID:23480488, PMID:24753243, PMID:28492532, PMID:30311386, PMID:8817341


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:27934587


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:17696123


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:7910484, PMID:7964718


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20056467, PMID:20823027


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:11246459, PMID:15468323


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:11160968, PMID:11246459, PMID:15468323, PMID:17696123, PMID:20399390, PMID:20430833, PMID:28492532, PMID:29225908


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20056467, PMID:22264700, PMID:25758715, PMID:28087438


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:24753243


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20399390, PMID:22583432


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:22264700


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20823027


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20056467


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
  • Original References(s): PMID:26467025


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20823027, PMID:22264700, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:28186668, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20056467, PMID:22264700, PMID:28087438, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:22583432, PMID:25741868, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:16643317, PMID:17698732, PMID:19120120, PMID:22583432, PMID:26467025, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:20430833, PMID:20823027, PMID:24696406, PMID:28492532


  • An association has been curated linking Th and Segawa Syndrome, Autosomal Recessive 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 TH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 120 papers in CRRD have been used to annotate Th
  • Curation Notes: ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
  • Original References(s): PMID:25741868, PMID:27165006, PMID:27185167, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.