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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:9693668 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:20301774 PMID:21901791 PMID:25741868 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens) & RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8692542 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8692536 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: Progressive myoclonic epilepsy
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8660432 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29358611


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:12898760 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:28492532 PMID:29358611


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:10053300 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8692536|RGD:8692541 (Homo sapiens) & RGD:8692536|RGD:8692541 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens) & RGD:10396669|RGD:11347468|RGD:12834645|RGD:12839735|RGD:12843503|RGD:12843562|RGD:12847006|RGD:12850377|RGD:8643418|RGD:8660433|RGD:8692542 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8692541 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8643416|RGD:8660430 (Homo sapiens) & RGD:8643416|RGD:8660430 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:18414213 PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8643418|RGD:8692536 (Homo sapiens) & RGD:8643418|RGD:8692536 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:8660433 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:24689077 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking PRICKLE1 and progressive myoclonus epilepsy 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:10396669 (Homo sapiens)
  • 277 RGD objects have been annotated to progressive myoclonus epilepsy  (DOID:891)
  • 8 papers in RGD have been used to annotate PRICKLE1
  • Curation Notes: ClinVar Annotator: match by term: PME
  • Original References(s): PMID:25741868 PMID:28492532


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