focal epilepsy |
Disease ID | 679 |
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Disease | focal epilepsy |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0001250 | Seizures | 25 HP:0002539 | Cortical dysplasia | 3 HP:0001249 | Mental retardation | 2 HP:0010819 | drop attacks | 2 HP:0004373 | Focal dystonia | 1 HP:0007359 | Partial seizures | 1 HP:0002664 | Neoplasia | 1 HP:0012266 | T-wave alternans | 1 HP:0030692 | Brain tumor | 1 HP:0003219 | Ethylmalonic aciduria | 1 HP:0012847 | Epilepsia partialis continua | 1 HP:0009733 | Glioma | 1 HP:0002027 | Abdominal pain | 1 HP:0000716 | Depression | 1 HP:0002282 | Heterotopias | 1 HP:0001262 | Somnolence | 1 HP:0012531 | Pain | 1 HP:0001336 | Myoclonic jerks | 1 HP:0012120 | Methymalonicaciduria | 1 HP:0000739 | Anxiety | 1 HP:0001332 | Dystonia | 1 HP:0011157 | Auras | 1 |
Disease ID | 679 |
---|---|
Disease | focal epilepsy |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0036572 | seizures | 20 C0036572 | seizure | 5 C0235169 | excitability | 2 C0270838 | secondarily generalized seizures | 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 |
rs1045642 | 25223475 | 5243 | ABCB1 | umls:C0014547 | BeFree | Polymorphism of ABCB1/MDR1 C3435T in children and adolescents with partial epilepsy is due to different criteria for drug resistance - preliminary results. | 0.000542884 | 2015 | ABCB1 | 7 | 87509329 | A | T,G |
rs1490157 | 20522523 | 79750 | ZNF385D | umls:C0014547 | GAD | [Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.] | 0.002367032 | 2010 | ZNF385D | 3 | 21677754 | C | T |
rs2475335 | 20522523 | 5789 | PTPRD | umls:C0014547 | GAD | [Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.] | 0.002367032 | 2010 | PTPRD | 9 | 10260263 | C | T |
rs2601828 | 20522523 | 115 | ADCY9 | umls:C0014547 | GAD | [Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.] | 0.122367032 | 2010 | ADCY9 | 16 | 4053870 | T | C |
rs2601828 | 20522523 | 115 | ADCY9 | umls:C0014547 | GWASCAT | Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. | 0.122367032 | 2010 | ADCY9 | 16 | 4053870 | T | C |
rs2841498 | 20522523 | 4915 | NTRK2 | umls:C0014547 | GAD | [Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.] | 0.002367032 | 2010 | NA | 9 | 85315130 | A | C |
rs346291 | 20522523 | 83699 | SH3BGRL2 | umls:C0014547 | GAD | [Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.] | 0.002367032 | 2010 | C6orf7 | 6 | 79855119 | C | T |
rs346291 | 20522523 | 89758 | C6orf7 | umls:C0014547 | GWASCAT | Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. | 0.12 | 2010 | C6orf7 | 6 | 79855119 | C | T |
rs3755724 | 25595263 | 7079 | TIMP4 | umls:C0014547 | BeFree | Contribution of TIMP4 rs3755724 polymorphism to susceptibility to focal epilepsy in Malaysian Chinese. | 0.000271442 | 2014 | SYN2;TIMP4 | 3 | 12159406 | C | T |
rs3812718 | 22292851 | 6323 | SCN1A | umls:C0014547 | BeFree | The results of the present study indicate that the rs3812718 SNP in the SCN1A gene is significantly associated with the retention rate of CBZ monotherapy in Chinese Han patients with focal epilepsy. | 0.006720033 | 2012 | SCN1A | 2 | 166053034 | C | T |
rs397514679 | 26096837 | 6853 | SYN1 | umls:C0014547 | BeFree | We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. | 0.000542884 | 2015 | SYN1 | X | 47574321 | G | A |
rs61738009 | 21922598 | 57094 | CPA6 | umls:C0014547 | BeFree | Screening all exons of CPA6 in unrelated patients with partial epilepsy (n = 195) and FS (n = 145) revealed a new heterozygous missense mutation c.799G>A (p.Gly267Arg) in three TLE patients. | 0.000814326 | 2012 | CPA6 | 8 | 67483807 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:74) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
1 | 96025546 | rs1396626 | G | A | rs1396626 | 20522523 | 3.36E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
1 | 97721227 | rs493517 | A | G | rs493517 | 20522523 | 5.13E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
1 | 97721392 | rs495257 | A | G | rs495257 | 20522523 | 6.06E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
1 | 119836236 | rs11580295 | C | T | rs11580295 | 20522523 | 4.36E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
1 | 186875459 | rs10798069 | G | T | rs10798069 | 20522523 | 8.41E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
1 | 194269455 | rs1018626 | G | A | rs1018626 | 20522523 | 2.61E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 8235239 | rs6712604 | T | C | rs6712604 | 20522523 | 2.14E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 117100160 | rs6751658 | A | G | rs6751658 | 20522523 | 7.66E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 117126557 | rs11123348 | G | A | rs11123348 | 20522523 | 7.03E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 154745009 | rs16834756 | A | G | rs16834756 | 20522523 | 4.89E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 166913962 | rs545331 | G | A | rs545331 | 20522523 | 4.62E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 180443444 | rs1515308 | T | C | rs1515308 | 20522523 | 5.70E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 180452188 | rs2138196 | G | A | rs2138196 | 20522523 | 5.97E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 205366339 | rs4556959 | A | G | rs4556959 | 20522523 | 1.70E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 223567016 | rs951997 | A | G | rs951997 | 20522523 | 2.00E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
2 | 234386803 | rs745155 | T | G | rs745155 | 20522523 | 7.61E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 12998180 | rs2600328 | T | C | rs2600328 | 20522523 | 7.97E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 13626592 | rs3773283 | T | C | rs3773283 | 20522523 | 2.92E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 13630307 | rs3773282 | T | C | rs3773282 | 20522523 | 1.08E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 21686466 | rs1387822 | G | A | rs1387822 | 20522523 | 2.92E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 21701712 | rs1320292 | A | G | rs1320292 | 20522523 | 1.61E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 21714103 | rs986503 | A | G | rs986503 | 20522523 | 4.31E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 21719246 | rs1490157 | C | T | rs1490157 | 20522523 | 5.00E-06 | NA | 1.2 | [1.11-1.32] | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 21726363 | rs4298061 | G | T | rs4298061 | 20522523 | 3.14E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 78325071 | rs1512486 | A | G | rs1512486 | 20522523 | 7.42E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 151075674 | rs6790448 | A | G | rs6790448 | 20522523 | 6.96E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
3 | 160283815 | rs3806629 | C | A | rs3806629 | 20522523 | 3.71E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 38529130 | rs11942117 | C | T | rs11942117 | 20522523 | 8.29E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 38537708 | rs923665 | T | C | rs923665 | 20522523 | 3.74E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 62407327 | rs1565901 | C | T | rs1565901 | 20522523 | 5.00E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 62416499 | rs2132074 | G | A | rs2132074 | 20522523 | 1.28E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 62445246 | rs10018746 | T | C | rs10018746 | 20522523 | 4.49E-06 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 62453209 | rs2172802 | A | G | rs2172802 | 20522523 | 3.00E-06 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 62487688 | rs1948616 | C | T | rs1948616 | 20522523 | 8.62E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 94572864 | rs6848888 | T | C | rs6848888 | 20522523 | 1.63E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
4 | 183255434 | rs1516537 | G | A | rs1516537 | 20522523 | 8.88E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
5 | 19160015 | rs9637779 | A | G | rs9637779 | 20522523 | 3.28E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 42901120 | rs4714634 | G | A | rs4714634 | 20522523 | 9.86E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 62563667 | rs511137 | T | C | rs511137 | 20522523 | 7.71E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 80564519 | rs9341799 | T | C | rs9341799 | 20522523 | 4.82E-07 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 80564836 | rs346291 | C | T | rs346291 | 20522523 | 3.00E-07 | NA | 1.2 | [1.12-1.30] | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 80597212 | rs1120229 | C | T | rs1120229 | 20522523 | 2.23E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 129820505 | rs17752721 | C | T | rs17752721 | 20522523 | 7.39E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
6 | 155164271 | rs1106753 | G | A | rs1106753 | 20522523 | 7.55E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
8 | 79447414 | rs7837755 | T | C | rs7837755 | 20522523 | 9.74E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
9 | 10260263 | rs2475335 | C | T | rs2475335 | 20522523 | 9.00E-06 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
9 | 87930045 | rs2841498 | A | C | rs2841498 | 20522523 | 4.00E-06 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
9 | 87992789 | rs2814734 | A | C | rs2814734 | 20522523 | 4.43E-06 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
9 | 88009220 | rs2593018 | T | C | rs2593018 | 20522523 | 4.29E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
9 | 90487924 | rs4072799 | T | G | rs4072799 | 20522523 | 2.39E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 67653901 | rs1942006 | C | T | rs1942006 | 20522523 | 2.12E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 67671031 | rs17239966 | T | C | rs17239966 | 20522523 | 6.69E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 70987060 | rs10823320 | A | G | rs10823320 | 20522523 | 3.43E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 72287444 | rs11819622 | G | T | rs11819622 | 20522523 | 2.30E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 78062571 | rs2573555 | A | G | rs2573555 | 20522523 | 6.48E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 87750258 | rs17318292 | T | C | rs17318292 | 20522523 | 6.14E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
10 | 134554926 | rs12267364 | C | T | rs12267364 | 20522523 | 5.48E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
11 | 26007640 | rs12273504 | C | T | rs12273504 | 20522523 | 7.48E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
12 | 3352543 | rs4765723 | T | G | rs4765723 | 20522523 | 6.01E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
12 | 10854537 | rs2305849 | C | T | rs2305849 | 20522523 | 2.26E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
12 | 10856255 | rs2418103 | A | G | rs2418103 | 20522523 | 1.42E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
12 | 119535001 | rs11609210 | G | A | rs11609210 | 20522523 | 8.95E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
12 | 119535709 | rs11611821 | T | C | rs11611821 | 20522523 | 7.26E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
13 | 95088866 | rs1886049 | G | A | rs1886049 | 20522523 | 8.82E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
14 | 105974781 | rs10151805 | T | C | rs10151805 | 20522523 | 2.37E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
14 | 105998544 | rs4074453 | T | C | rs4074453 | 20522523 | 8.48E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
15 | 26985509 | rs10152421 | G | A | rs10152421 | 20522523 | 5.28E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
15 | 60374681 | rs17269978 | T | C | rs17269978 | 20522523 | 5.35E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
16 | 4103871 | rs2601828 | T | C | rs2601828 | 20522523 | 1.00E-06 | NA | 1.12 | [1.12-1.31] | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | rs2601828-A | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
16 | 23944483 | rs3785392 | A | G | rs3785392 | 20522523 | 3.63E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
16 | 23959420 | rs1989647 | G | A | rs1989647 | 20522523 | 1.28E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
16 | 86131064 | rs4843349 | G | A | rs4843349 | 20522523 | 7.99E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
18 | 53135894 | rs2924329 | G | A | rs2924329 | 20522523 | 9.37E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
19 | 29599650 | rs8103835 | A | G | rs8103835 | 20522523 | 9.37E-05 | NA | NA | NA | Up to 3,445 European ancestry cases; 6,935 European ancestry controls | European(10380) | ALL(10380) | EUR(10380) | ALL(10380) | Partial epilepsies | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004828 | Epilepsies, Partial | NA | NA | Epilepsy | NA | Multicenter Study | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't |
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:15) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0014547 | carbamazepine | D002220 | 298-46-4 | epilepsies, partial | MESH:D004828 | therapeutic | 10331832 | ||
C0014547 | cefotaxime | D002439 | 63527-52-6 | epilepsies, partial | MESH:D004828 | marker/mechanism | 3110537 | ||
C0014547 | chlorambucil | D002699 | 305-03-3 | epilepsies, partial | MESH:D004828 | marker/mechanism | 118440 | ||
C0014547 | clozapine | D003024 | 5786-21-0 | epilepsies, partial | MESH:D004828 | marker/mechanism | 9825078 | ||
C0014547 | ethosuximide | D005013 | 77-67-8 | epilepsies, partial | MESH:D004828 | therapeutic | 3922381 | ||
C0014547 | felbamate | C047360 | 25451-15-4 | epilepsies, partial | MESH:D004828 | therapeutic | 11518421 | ||
C0014547 | lamotrigine | C047781 | 84057-84-1 | epilepsies, partial | MESH:D004828 | therapeutic | 10728528 | ||
C0014547 | methotrexate | D008727 | 1959/5/2 | epilepsies, partial | MESH:D004828 | marker/mechanism | 11992760 | ||
C0014547 | phenytoin | D010672 | 57-41-0 | epilepsies, partial | MESH:D004828 | therapeutic | 11558140 | ||
C0014547 | picrotoxin | D010852 | 124-87-8 | epilepsies, partial | MESH:D004828 | marker/mechanism | 8332623 | ||
C0014547 | pilocarpine | D010862 | 92-13-7 | epilepsies, partial | MESH:D004828 | marker/mechanism | 12467714 | ||
C0014547 | topiramate | C052342 | 97240-79-4 | epilepsies, partial | MESH:D004828 | therapeutic | 15642451 | ||
C0014547 | trimethadione | D014293 | 127-48-0 | epilepsies, partial | MESH:D004828 | therapeutic | 3922381 | ||
C0014547 | valproic acid | D014635 | 99-66-1 | epilepsies, partial | MESH:D004828 | therapeutic | 14557592 | ||
C0014547 | vigabatrin | D020888 | 60643-86-9 | epilepsies, partial | MESH:D004828 | therapeutic | 10534259 |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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