PedAM
Pediatric Disease Annotations & Medicines
| idiopathic generalized epilepsy | ||||
| Disease ID | 991 |
|---|---|
| Disease | idiopathic generalized epilepsy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0002123 | Myoclonus seizures HP:0002069 | Generalized tonic clonic seizures HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) HP:0002121 | Petit mal seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001250 | Seizures | 10 HP:0002069 | Generalized tonic clonic seizures | 8 HP:0002121 | Petit mal seizures | 2 HP:0011147 | Typical absence seizures | 1 HP:0010819 | drop attacks | 1 HP:0002384 | Dyscognitive seizures | 1 HP:0002415 | Degeneration of white matter of brain | 1 HP:0007359 | Partial seizures | 1 |
| Disease ID | 991 |
|---|---|
| Disease | idiopathic generalized epilepsy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0494475 | tonic-clonic seizures | 8 C0014553 | absence seizures | 2 C0494475 | generalized tonic-clonic seizures | 1 C0259813 | drop attacks | 1 C0235169 | excitability | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:12) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852681 | 23632988 | 1181 | CLCN2 | umls:C0270850 | BeFree | To test for a potential pathophysiological impact of ClC-2 regulation by ATP, we studied ClC-2 channels carrying naturally occurring sequence variants found in patients with idiopathic generalized epilepsy, G715E, R577Q, and R653T. | 0.121357209 | 2013 | CLCN2 | 3 | 184352810 | C | T |
| rs16850331 | 20041941 | 6326 | SCN2A | umls:C0270850 | BeFree | Two SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios. | 0.000814326 | 2010 | SCN2A | 2 | 165292743 | C | T |
| rs1799971 | 17054695 | 4988 | OPRM1 | umls:C0270850 | BeFree | Our results provide no support for association of A118G with either IAE or IGE and also exclude association in our sample of a small-to-moderate gene effect with IGE from a large part of OPRM1. | 0.120542884 | 2006 | OPRM1 | 6 | 154039662 | A | G |
| rs1801545 | 18625963 | 3785 | KCNQ2 | umls:C0270850 | BeFree | In KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004). | 0.001357209 | 2008 | KCNQ2 | 20 | 63414925 | G | C,A |
| rs193922419 | 18756473 | 846 | CASR | umls:C0270850 | BeFree | Four additional, potentially pathogenic, missense CASR variants, Glu354Ala, Ile686Val, Ala988Val, and Ala988Gly, were observed in five individuals affected with idiopathic generalized epilepsy. | 0.120271442 | 2008 | CASR | 3 | 122262093 | A | C |
| rs211037 | 23140995 | 2566 | GABRG2 | umls:C0270850 | BeFree | Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptibility to febrile seizure (FS) and idiopathic generalized epilepsy (IGE), however results have been inconclusive. | 0.000814326 | 2013 | GABRG2 | 5 | 162101274 | C | T |
| rs2486253 | 25008907 | 3766 | KCNJ10 | umls:C0270850 | BeFree | There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). | 0.000542884 | 2015 | KCNJ10 | 1 | 160039629 | A | C |
| rs3219151 | 25088614 | 2559 | GABRA6 | umls:C0270850 | BeFree | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. | 0.000271442 | 2014 | GABRA6 | 5 | 161701908 | C | T |
| rs3219151 | 25088614 | 6854 | SYN2 | umls:C0270850 | BeFree | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. | 0.000271442 | 2014 | GABRA6 | 5 | 161701908 | C | T |
| rs37733634 | 25088614 | 6854 | SYN2 | umls:C0270850 | BeFree | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
| rs37733634 | 25088614 | 2559 | GABRA6 | umls:C0270850 | BeFree | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
| rs3943809 | 20041941 | 6326 | SCN2A | umls:C0270850 | BeFree | Two SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios. | 0.000814326 | 2010 | SCN2A | 2 | 165344371 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |