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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking POLR3H and genetic disease 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:13530289 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 6 papers in RGD have been used to annotate POLR3H
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:28492532 PMID:30689204 PMID:32519519


  • An association has been curated linking POLR3H and genetic disease 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:156220163 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 6 papers in RGD have been used to annotate POLR3H
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


  • An association has been curated linking POLR3H and genetic disease 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:15153932 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 6 papers in RGD have been used to annotate POLR3H
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking POLR3H and genetic disease 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:126909690 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 6 papers in RGD have been used to annotate POLR3H
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:28492532


  • An association has been curated linking POLR3H and genetic disease 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:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens) & RGD:155988779|RGD:155989517|RGD:156260057|RGD:156260888|RGD:156288464|RGD:156399315|RGD:329353628|RGD:329361459|RGD:401717964|RGD:401866028|RGD:401868617|RGD:401871029 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 6 papers in RGD have been used to annotate POLR3H
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases


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