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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Gch1 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 30 papers in CRRD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by synonym: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:9667588


  • An association has been curated linking Gch1 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 30 papers in CRRD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by synonym: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:12552057, PMID:15303002


  • An association has been curated linking Gch1 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 30 papers in CRRD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:10987649, PMID:26467025


  • An association has been curated linking Gch1 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 30 papers in CRRD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:10984668, PMID:12391354, PMID:1530300, PMID:15303002, PMID:17044972, PMID:18044725, PMID:19332422, PMID:23430498, PMID:24993959, PMID:25497597, PMID:25741868, PMID:26467025, PMID:27313105, PMID:28492532, PMID:30314816, PMID:8852666, PMID:9667588


  • An association has been curated linking Gch1 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 30 papers in CRRD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:15753436, PMID:16917893, PMID:17898029, PMID:28492532, PMID:9667588


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