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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking KCNQ3 and benign familial neonatal 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:13610358 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:28492532 PMID:29358611


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:10396273 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:10396263 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:10397706 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30348901 PMID:33004838


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:8659827|RGD:8691782 (Homo sapiens) & RGD:8659827|RGD:8691782 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens) & RGD:10403530|RGD:126769813|RGD:126772128|RGD:12843945|RGD:151729021|RGD:151818464|RGD:28872712|RGD:38497994|RGD:405253043|RGD:8691785|RGD:8691786 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures | ClinVar Annotator: match by term: Benign neonatal familial convulsions
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:26916877 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:18249525 PMID:23146207 PMID:25052858 PMID:25741868 PMID:28492532


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:14732605 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:24375629 PMID:25741868 PMID:28492532


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:10397708 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170


    • An association has been curated linking KCNQ3 and benign familial neonatal 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:8601148 (Homo sapiens)
  • 26 RGD objects have been annotated to benign familial neonatal epilepsy  (DOID:14777)
  • 9 papers in RGD have been used to annotate KCNQ3
  • Curation Notes: ClinVar Annotator: match by term: Benign familial neonatal seizures
  • Original References(s): PMID:18625963 PMID:19344764 PMID:19464834 PMID:21703448 PMID:22612257 PMID:23596459 PMID:25741868 PMID:28492532


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