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GENE - TERM ANNOTATION REPORT

18 Annotations Found.

An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by OMIM:607694


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by OMIM:607694
  • Original References(s): PMID:21855841


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:12605447, PMID:21855841, PMID:25741868


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by OMIM:607694
  • Original References(s): PMID:22036171


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Pol III-related leukodystrophy
  • Original References(s): PMID:25741868


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by OMIM:607694
  • Original References(s): PMID:17159124, PMID:21855841


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by OMIM:607694
  • Original References(s): PMID:20640464, PMID:21855841


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Pol III-related leukodystrophy
  • Original References(s): PMID:28492532


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Pol III-related leukodystrophy
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Leukodystrophy with oligodontia
  • Original References(s): PMID:21855841, PMID:25741868, PMID:30414627


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:26752647


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Dentoleukoencephalopathy
  • Original References(s): PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:25741868, PMID:26096995, PMID:27521716, PMID:27535217, PMID:28492532


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:21855841, PMID:25339210


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:25741868, PMID:614258


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:25741868, PMID:28459997, PMID:32214227, PMID:32860008, PMID:614258


  • An association has been curated linking Polr3a and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060794)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
  • Original References(s): PMID:27029625


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