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Pediatric Disease Annotations & Medicines



   focal epilepsy
  

Disease ID 679
Disease focal epilepsy
Definition
Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)
Synonym
disorders, focal seizure
disorders, partial seizure
epilepsies, focal
epilepsies, localization-related
epilepsies, partial
epilepsies, partial [disease/finding]
epilepsy focal
epilepsy localization relat
epilepsy, focal
epilepsy, focal nos
epilepsy, localization-related
epilepsy, partial
epilepsy, partial nos
focal epilepsies
focal epilepsy, nos
focal seizure dis
focal seizure disorder
focal seizure disorders
local epilepsy
localisation-related epilepsy
localisation-related epilepsy (disorder)
localisation-related epilepsy -retired-
localization-related epilepsies
localization-related epilepsy
localization-related epilepsy (disorder)
localization-related epilepsy -retired-
localization-related epilepsy, nos
partial epilepsies
partial epilepsy
partial seizure dis
partial seizure disorder
partial seizure disorders
seizure dis focal
seizure dis partial
seizure disorder, focal
seizure disorder, partial
seizure disorders, focal
seizure disorders, partial
DOID
UMLS
C0014547
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:18)
C0014544  |  epilepsy  |  11
C0014556  |  temporal lobe epilepsy  |  2
C0003469  |  anxiety disorder  |  2
C0238111  |  lennox-gastaut syndrome  |  1
C0003467  |  anxiety  |  1
C1868720  |  periventricular nodular heterotopia  |  1
C0014544  |  epilepsia  |  1
C0085543  |  epilepsia partialis continua  |  1
C0003469  |  anxiety disorders  |  1
C1266177  |  dysembryoplastic neuroepithelial tumor  |  1
C0743332  |  focal dystonia  |  1
C0268583  |  methylmalonic aciduria  |  1
C0011570  |  depression  |  1
C0270850  |  idiopathic generalized epilepsy  |  1
C0016667  |  fragile x syndrome  |  1
C0014544  |  epileptic seizures  |  1
C0013421  |  dystonia  |  1
C0014544  |  epileptic seizure  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
ADCY9  |  115  |  GWASCAT
KCNT1  |  57582  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
5243  |  ABCB1  |  infer
1244  |  ABCC2  |  infer
9429  |  ABCG2  |  infer
115  |  ADCY9  |  infer
4915  |  NTRK2  |  infer
5789  |  PTPRD  |  infer
83699  |  SH3BGRL2  |  infer
79750  |  ZNF385D  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:502)
100302690  |  DLG2-AS1  |  DISEASES
2554  |  GABRA1  |  DISEASES
84245  |  MRI1  |  DISEASES
65078  |  RTN4R  |  DISEASES
3631  |  INPP4A  |  DISEASES
53615  |  MBD3  |  DISEASES
4804  |  NGFR  |  DISEASES
9741  |  LAPTM4A  |  DISEASES
7205  |  TRIP6  |  DISEASES
4185  |  ADAM11  |  DISEASES
5816  |  PVALB  |  DISEASES
328  |  APEX1  |  DISEASES
81027  |  TUBB1  |  DISEASES
5173  |  PDYN  |  DISEASES
140679  |  SLC32A1  |  DISEASES
2742  |  GLRA2  |  DISEASES
7249  |  TSC2  |  DISEASES
57030  |  SLC17A7  |  DISEASES
166  |  AES  |  DISEASES
64816  |  CYP3A43  |  DISEASES
5118  |  PCOLCE  |  DISEASES
26157  |  GIMAP2  |  DISEASES
55163  |  PNPO  |  DISEASES
51056  |  LAP3  |  DISEASES
2597  |  GAPDH  |  DISEASES
2026  |  ENO2  |  DISEASES
1432  |  MAPK14  |  DISEASES
8724  |  SNX3  |  DISEASES
55770  |  EXOC2  |  DISEASES
51185  |  CRBN  |  DISEASES
10641  |  NPRL2  |  DISEASES
7781  |  SLC30A3  |  DISEASES
5967  |  REG1A  |  DISEASES
3769  |  KCNJ13  |  DISEASES
5341  |  PLEK  |  DISEASES
1185  |  CLCN6  |  DISEASES
5997  |  RGS2  |  DISEASES
9429  |  ABCG2  |  DISEASES
10983  |  CCNI  |  DISEASES
3641  |  INSL4  |  DISEASES
5217  |  PFN2  |  DISEASES
4852  |  NPY  |  DISEASES
7291  |  TWIST1  |  DISEASES
5552  |  SRGN  |  DISEASES
3991  |  LIPE  |  DISEASES
29993  |  PACSIN1  |  DISEASES
2354  |  FOSB  |  DISEASES
7277  |  TUBA4A  |  DISEASES
57622  |  LRFN1  |  DISEASES
29767  |  TMOD2  |  DISEASES
6351  |  CCL4  |  DISEASES
7283  |  TUBG1  |  DISEASES
348  |  APOE  |  DISEASES
1463  |  NCAN  |  DISEASES
23229  |  ARHGEF9  |  DISEASES
2670  |  GFAP  |  DISEASES
1327  |  COX4I1  |  DISEASES
8500  |  PPFIA1  |  DISEASES
6538  |  SLC6A11  |  DISEASES
6616  |  SNAP25  |  DISEASES
4678  |  NASP  |  DISEASES
6860  |  SYT4  |  DISEASES
759  |  CA1  |  DISEASES
10752  |  CHL1  |  DISEASES
2016  |  EMX1  |  DISEASES
27345  |  KCNMB4  |  DISEASES
10228  |  STX6  |  DISEASES
5279  |  PIGC  |  DISEASES
80326  |  WNT10A  |  DISEASES
3569  |  IL6  |  DISEASES
2572  |  GAD2  |  DISEASES
9568  |  GABBR2  |  DISEASES
347733  |  TUBB2B  |  DISEASES
6496  |  SIX3  |  DISEASES
29081  |  METTL5  |  DISEASES
9194  |  SLC16A7  |  DISEASES
6857  |  SYT1  |  DISEASES
5629  |  PROX1  |  DISEASES
6532  |  SLC6A4  |  DISEASES
23316  |  CUX2  |  DISEASES
1143  |  CHRNB4  |  DISEASES
23184  |  MESDC2  |  DISEASES
9480  |  ONECUT2  |  DISEASES
79726  |  WDR59  |  DISEASES
6505  |  SLC1A1  |  DISEASES
6558  |  SLC12A2  |  DISEASES
5976  |  UPF1  |  DISEASES
3783  |  KCNN4  |  DISEASES
2901  |  GRIK5  |  DISEASES
57084  |  SLC17A6  |  DISEASES
6855  |  SYP  |  DISEASES
2033  |  EP300  |  DISEASES
55686  |  MREG  |  DISEASES
3553  |  IL1B  |  DISEASES
8775  |  NAPA  |  DISEASES
9424  |  KCNK6  |  DISEASES
51430  |  SUCO  |  DISEASES
10000  |  AKT3  |  DISEASES
25885  |  POLR1A  |  DISEASES
2557  |  GABRA4  |  DISEASES
57575  |  PCDH10  |  DISEASES
1421  |  CRYGD  |  DISEASES
8745  |  ADAM23  |  DISEASES
8452  |  CUL3  |  DISEASES
2891  |  GRIA2  |  DISEASES
2247  |  FGF2  |  DISEASES
84961  |  FBXL20  |  DISEASES
83891  |  SNX25  |  DISEASES
5443  |  POMC  |  DISEASES
8626  |  TP63  |  DISEASES
4171  |  MCM2  |  DISEASES
6507  |  SLC1A3  |  DISEASES
793  |  CALB1  |  DISEASES
9379  |  NRXN2  |  DISEASES
1181  |  CLCN2  |  DISEASES
51083  |  GAL  |  DISEASES
5243  |  ABCB1  |  DISEASES
53616  |  ADAM22  |  DISEASES
10863  |  ADAM28  |  DISEASES
6595  |  SMARCA2  |  DISEASES
9044  |  BTAF1  |  DISEASES
6751  |  SSTR1  |  DISEASES
3067  |  HDC  |  DISEASES
59274  |  MESDC1  |  DISEASES
18  |  ABAT  |  DISEASES
3613  |  IMPA2  |  DISEASES
207  |  AKT1  |  DISEASES
805  |  CALM2  |  DISEASES
165257  |  C1QL2  |  DISEASES
25953  |  PNKD  |  DISEASES
58478  |  ENOPH1  |  DISEASES
8001  |  GLRA3  |  DISEASES
2559  |  GABRA6  |  DISEASES
2561  |  GABRB2  |  DISEASES
3358  |  HTR2C  |  DISEASES
8973  |  CHRNA6  |  DISEASES
9046  |  DOK2  |  DISEASES
1392  |  CRH  |  DISEASES
4915  |  NTRK2  |  DISEASES
23082  |  PPRC1  |  DISEASES
51144  |  HSD17B12  |  DISEASES
6506  |  SLC1A2  |  DISEASES
6327  |  SCN2B  |  DISEASES
2904  |  GRIN2B  |  DISEASES
22948  |  CCT5  |  DISEASES
23657  |  SLC7A11  |  DISEASES
9472  |  AKAP6  |  DISEASES
2043  |  EPHA4  |  DISEASES
10056  |  FARSB  |  DISEASES
2697  |  GJA1  |  DISEASES
2911  |  GRM1  |  DISEASES
6328  |  SCN3A  |  DISEASES
6326  |  SCN2A  |  DISEASES
22878  |  TRAPPC8  |  DISEASES
7342  |  UBP1  |  DISEASES
22934  |  RPIA  |  DISEASES
3773  |  KCNJ16  |  DISEASES
4900  |  NRGN  |  DISEASES
57630  |  SH3RF1  |  DISEASES
2890  |  GRIA1  |  DISEASES
132  |  ADK  |  DISEASES
6750  |  SST  |  DISEASES
6529  |  SLC6A1  |  DISEASES
114793  |  FMNL2  |  DISEASES
57477  |  SHROOM4  |  DISEASES
6296  |  ACSM3  |  DISEASES
1142  |  CHRNB3  |  DISEASES
57369  |  GJD2  |  DISEASES
808  |  CALM3  |  DISEASES
1476  |  CSTB  |  DISEASES
10841  |  FTCD  |  DISEASES
6285  |  S100B  |  DISEASES
5701  |  PSMC2  |  DISEASES
1742  |  DLG4  |  DISEASES
84219  |  WDR24  |  DISEASES
57465  |  TBC1D24  |  DISEASES
4760  |  NEUROD1  |  DISEASES
6853  |  SYN1  |  DISEASES
57619  |  SHROOM3  |  DISEASES
63974  |  NEUROD6  |  DISEASES
107  |  ADCY1  |  DISEASES
5001  |  ORC5  |  DISEASES
57094  |  CPA6  |  DISEASES
7248  |  TSC1  |  DISEASES
26610  |  ELP4  |  DISEASES
389941  |  C1QL3  |  DISEASES
2562  |  GABRB3  |  DISEASES
1138  |  CHRNA5  |  DISEASES
2587  |  GALR1  |  DISEASES
89832  |  CHRFAM7A  |  DISEASES
10369  |  CACNG2  |  DISEASES
6866  |  TAC3  |  DISEASES
762  |  CA4  |  DISEASES
7846  |  TUBA1A  |  DISEASES
8772  |  FADD  |  DISEASES
5617  |  PRL  |  DISEASES
51305  |  KCNK9  |  DISEASES
203190  |  LGI3  |  DISEASES
3308  |  HSPA4  |  DISEASES
7200  |  TRH  |  DISEASES
83660  |  TLN2  |  DISEASES
6323  |  SCN1A  |  DISEASES
6249  |  CLIP1  |  DISEASES
7857  |  SCG2  |  DISEASES
1140  |  CHRNB1  |  DISEASES
3038  |  HAS3  |  DISEASES
7064  |  THOP1  |  DISEASES
6726  |  SRP9  |  DISEASES
57555  |  NLGN2  |  DISEASES
9455  |  HOMER2  |  DISEASES
3954  |  LETM1  |  DISEASES
2915  |  GRM5  |  DISEASES
2353  |  FOS  |  DISEASES
3761  |  KCNJ4  |  DISEASES
51029  |  DESI2  |  DISEASES
4761  |  NEUROD2  |  DISEASES
9451  |  EIF2AK3  |  DISEASES
4176  |  MCM7  |  DISEASES
1241  |  LTB4R  |  DISEASES
794  |  CALB2  |  DISEASES
6137  |  RPL13  |  DISEASES
2752  |  GLUL  |  DISEASES
134  |  ADORA1  |  DISEASES
2820  |  GPD2  |  DISEASES
1808  |  DPYSL2  |  DISEASES
54207  |  KCNK10  |  DISEASES
2286  |  FKBP2  |  DISEASES
836  |  CASP3  |  DISEASES
266743  |  NPAS4  |  DISEASES
5978  |  REST  |  DISEASES
6396  |  SEC13  |  DISEASES
163175  |  LGI4  |  DISEASES
2771  |  GNAI2  |  DISEASES
6844  |  VAMP2  |  DISEASES
151188  |  ARL6IP6  |  DISEASES
1136  |  CHRNA3  |  DISEASES
3350  |  HTR1A  |  DISEASES
246213  |  SLC17A8  |  DISEASES
9478  |  CABP1  |  DISEASES
1960  |  EGR3  |  DISEASES
4684  |  NCAM1  |  DISEASES
27319  |  BHLHE22  |  DISEASES
55084  |  SOBP  |  DISEASES
377677  |  CA13  |  DISEASES
6863  |  TAC1  |  DISEASES
7284  |  TUFM  |  DISEASES
79641  |  ROGDI  |  DISEASES
5179  |  PENK  |  DISEASES
3735  |  KARS  |  DISEASES
64332  |  NFKBIZ  |  DISEASES
113457  |  TUBA3D  |  DISEASES
5663  |  PSEN1  |  DISEASES
3590  |  IL11RA  |  DISEASES
24140  |  FTSJ1  |  DISEASES
7433  |  VIPR1  |  DISEASES
3768  |  KCNJ12  |  DISEASES
3739  |  KCNA4  |  DISEASES
1946  |  EFNA5  |  DISEASES
706  |  TSPO  |  DISEASES
5121  |  PCP4  |  DISEASES
8811  |  GALR2  |  DISEASES
51400  |  PPME1  |  DISEASES
255022  |  CALHM1  |  DISEASES
8224  |  SYN3  |  DISEASES
10215  |  OLIG2  |  DISEASES
2903  |  GRIN2A  |  DISEASES
90249  |  UNC5A  |  DISEASES
9899  |  SV2B  |  DISEASES
3751  |  KCND2  |  DISEASES
8912  |  CACNA1H  |  DISEASES
9456  |  HOMER1  |  DISEASES
54997  |  TESC  |  DISEASES
2558  |  GABRA5  |  DISEASES
8541  |  PPFIA3  |  DISEASES
885  |  CCK  |  DISEASES
92335  |  STRADA  |  DISEASES
1641  |  DCX  |  DISEASES
57142  |  RTN4  |  DISEASES
1576  |  CYP3A4  |  DISEASES
3363  |  HTR7  |  DISEASES
554  |  AVPR2  |  DISEASES
23369  |  PUM2  |  DISEASES
9369  |  NRXN3  |  DISEASES
23583  |  SMUG1  |  DISEASES
6540  |  SLC6A13  |  DISEASES
54468  |  MIOS  |  DISEASES
89910  |  UBE3B  |  DISEASES
7479  |  WNT8B  |  DISEASES
26578  |  OSTF1  |  DISEASES
22837  |  COBLL1  |  DISEASES
3770  |  KCNJ14  |  DISEASES
7444  |  VRK2  |  DISEASES
3146  |  HMGB1  |  DISEASES
124454  |  EARS2  |  DISEASES
2918  |  GRM8  |  DISEASES
378884  |  NHLRC1  |  DISEASES
9218  |  VAPA  |  DISEASES
6176  |  RPLP1  |  DISEASES
6890  |  TAP1  |  DISEASES
6334  |  SCN8A  |  DISEASES
26289  |  AK5  |  DISEASES
204  |  AK2  |  DISEASES
50618  |  ITSN2  |  DISEASES
7453  |  WARS  |  DISEASES
6904  |  TBCD  |  DISEASES
10656  |  KHDRBS3  |  DISEASES
3476  |  IGBP1  |  DISEASES
801  |  CALM1  |  DISEASES
27198  |  HCAR1  |  DISEASES
9961  |  MVP  |  DISEASES
2917  |  GRM7  |  DISEASES
6597  |  SMARCA4  |  DISEASES
2571  |  GAD1  |  DISEASES
404552  |  SCGB1D4  |  DISEASES
112476  |  PRRT2  |  DISEASES
64780  |  MICAL1  |  DISEASES
56916  |  SMARCAD1  |  DISEASES
8913  |  CACNA1G  |  DISEASES
3785  |  KCNQ2  |  DISEASES
10814  |  CPLX2  |  DISEASES
9179  |  AP4M1  |  DISEASES
6539  |  SLC6A12  |  DISEASES
9908  |  G3BP2  |  DISEASES
10447  |  FAM3C  |  DISEASES
51150  |  SDF4  |  DISEASES
23230  |  VPS13A  |  DISEASES
4133  |  MAP2  |  DISEASES
23085  |  ERC1  |  DISEASES
4916  |  NTRK3  |  DISEASES
54981  |  NMRK1  |  DISEASES
477  |  ATP1A2  |  DISEASES
2475  |  MTOR  |  DISEASES
4886  |  NPY1R  |  DISEASES
26047  |  CNTNAP2  |  DISEASES
1756  |  DMD  |  DISEASES
4536  |  MT-ND2  |  DISEASES
56259  |  CTNNBL1  |  DISEASES
2913  |  GRM3  |  DISEASES
3775  |  KCNK1  |  DISEASES
5743  |  PTGS2  |  DISEASES
1660  |  DHX9  |  DISEASES
10767  |  HBS1L  |  DISEASES
6675  |  UAP1  |  DISEASES
3765  |  KCNJ9  |  DISEASES
3766  |  KCNJ10  |  DISEASES
10763  |  NES  |  DISEASES
1944  |  EFNA3  |  DISEASES
1141  |  CHRNB2  |  DISEASES
57459  |  GATAD2B  |  DISEASES
79005  |  SCNM1  |  DISEASES
10500  |  SEMA6C  |  DISEASES
23632  |  CA14  |  DISEASES
9900  |  SV2A  |  DISEASES
2018  |  EMX2  |  DISEASES
1268  |  CNR1  |  DISEASES
4803  |  NGF  |  DISEASES
1081  |  CGA  |  DISEASES
6566  |  SLC16A1  |  DISEASES
9446  |  GSTO1  |  DISEASES
3749  |  KCNC4  |  DISEASES
2316  |  FLNA  |  DISEASES
1137  |  CHRNA4  |  DISEASES
2556  |  GABRA3  |  DISEASES
63910  |  SLC17A9  |  DISEASES
1244  |  ABCC2  |  DISEASES
163351  |  GBP6  |  DISEASES
114327  |  EFHC1  |  DISEASES
1557  |  CYP2C19  |  DISEASES
9211  |  LGI1  |  DISEASES
6512  |  SLC1A7  |  DISEASES
2902  |  GRIN1  |  DISEASES
57582  |  KCNT1  |  DISEASES
186  |  AGTR2  |  DISEASES
5728  |  PTEN  |  DISEASES
1759  |  DNM1  |  DISEASES
27286  |  SRPX2  |  DISEASES
57526  |  PCDH19  |  DISEASES
4520  |  MTF1  |  DISEASES
284656  |  EPHA10  |  DISEASES
2899  |  GRIK3  |  DISEASES
89822  |  KCNK17  |  DISEASES
6812  |  STXBP1  |  DISEASES
2170  |  FABP3  |  DISEASES
7099  |  TLR4  |  DISEASES
6572  |  SLC18A3  |  DISEASES
2914  |  GRM4  |  DISEASES
3399  |  ID3  |  DISEASES
6891  |  TAP2  |  DISEASES
54455  |  FBXO42  |  DISEASES
1282  |  COL4A1  |  DISEASES
199  |  AIF1  |  DISEASES
23590  |  PDSS1  |  DISEASES
1041  |  CDSN  |  DISEASES
7091  |  TLE4  |  DISEASES
9630  |  GNA14  |  DISEASES
6668  |  SP2  |  DISEASES
55071  |  C9orf40  |  DISEASES
6096  |  RORB  |  DISEASES
2550  |  GABBR1  |  DISEASES
23670  |  TMEM2  |  DISEASES
51629  |  SLC25A39  |  DISEASES
54206  |  ERRFI1  |  DISEASES
56287  |  GKN1  |  DISEASES
4129  |  MAOB  |  DISEASES
8514  |  KCNAB2  |  DISEASES
388585  |  HES5  |  DISEASES
2563  |  GABRD  |  DISEASES
1114  |  CHGB  |  DISEASES
5251  |  PHEX  |  DISEASES
5621  |  PRNP  |  DISEASES
6792  |  CDKL5  |  DISEASES
4810  |  NHS  |  DISEASES
7280  |  TUBB2A  |  DISEASES
6462  |  SHBG  |  DISEASES
9681  |  DEPDC5  |  DISEASES
55203  |  LGI2  |  DISEASES
55504  |  TNFRSF19  |  DISEASES
3736  |  KCNA1  |  DISEASES
6545  |  SLC7A4  |  DISEASES
361  |  AQP4  |  DISEASES
131405  |  TRIM71  |  DISEASES
3786  |  KCNQ3  |  DISEASES
2617  |  GARS  |  DISEASES
152992  |  TRMT44  |  DISEASES
84628  |  NTNG2  |  DISEASES
5803  |  PTPRZ1  |  DISEASES
2596  |  GAP43  |  DISEASES
2912  |  GRM2  |  DISEASES
56666  |  PANX2  |  DISEASES
6843  |  VAMP1  |  DISEASES
5048  |  PAFAH1B1  |  DISEASES
594857  |  NPS  |  DISEASES
4905  |  NSF  |  DISEASES
7442  |  TRPV1  |  DISEASES
81929  |  SEH1L  |  DISEASES
2897  |  GRIK1  |  DISEASES
8131  |  NPRL3  |  DISEASES
8911  |  CACNA1I  |  DISEASES
1135  |  CHRNA2  |  DISEASES
2115  |  ETV1  |  DISEASES
3778  |  KCNMA1  |  DISEASES
10636  |  RGS14  |  DISEASES
6332  |  SCN7A  |  DISEASES
57703  |  CWC22  |  DISEASES
57468  |  SLC12A5  |  DISEASES
1385  |  CREB1  |  DISEASES
837  |  CASP4  |  DISEASES
11171  |  STRAP  |  DISEASES
5649  |  RELN  |  DISEASES
57282  |  SLC4A10  |  DISEASES
146713  |  RBFOX3  |  DISEASES
197  |  AHSG  |  DISEASES
4988  |  OPRM1  |  DISEASES
30820  |  KCNIP1  |  DISEASES
6560  |  SLC12A4  |  DISEASES
6324  |  SCN1B  |  DISEASES
2898  |  GRIK2  |  DISEASES
4908  |  NTF3  |  DISEASES
387  |  RHOA  |  DISEASES
6635  |  SNRPE  |  DISEASES
6158  |  RPL28  |  DISEASES
2900  |  GRIK4  |  DISEASES
9852  |  EPM2AIP1  |  DISEASES
91833  |  WDR20  |  DISEASES
399697  |  CTXN2  |  DISEASES
1139  |  CHRNA7  |  DISEASES
2668  |  GDNF  |  DISEASES
2566  |  GABRG2  |  DISEASES
23658  |  LSM5  |  DISEASES
2632  |  GBE1  |  DISEASES
10900  |  RUNDC3A  |  DISEASES
3586  |  IL10  |  DISEASES
6628  |  SNRPB  |  DISEASES
51661  |  FKBP7  |  DISEASES
627  |  BDNF  |  DISEASES
1945  |  EFNA4  |  DISEASES
6513  |  SLC2A1  |  DISEASES
10243  |  GPHN  |  DISEASES
132204  |  SYNPR  |  DISEASES
7881  |  KCNAB1  |  DISEASES
51555  |  PEX5L  |  DISEASES
51227  |  PIGP  |  DISEASES
22987  |  SV2C  |  DISEASES
346007  |  EYS  |  DISEASES
22999  |  RIMS1  |  DISEASES
10687  |  PNMA2  |  DISEASES
3066  |  HDAC2  |  DISEASES
7178  |  TPT1  |  DISEASES
55862  |  ECHDC1  |  DISEASES
785  |  CACNB4  |  DISEASES
5099  |  PCDH7  |  DISEASES
143686  |  SESN3  |  DISEASES
5027  |  P2RX7  |  DISEASES
8972  |  MGAM  |  DISEASES
10381  |  TUBB3  |  DISEASES
56963  |  RGMA  |  DISEASES
3316  |  HSPB2  |  DISEASES
102723508  |  KANTR  |  DISEASES
378938  |  MALAT1  |  DISEASES
114614  |  MIR155HG  |  DISEASES
7955  |  RNF217-AS1  |  DISEASES
692225  |  SNORD94  |  DISEASES
Locus(Waiting for update.)
Disease ID 679
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)
(Waiting for update.)
All Snps(Total Genotypes:12)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1045642252234755243ABCB1umls:C0014547BeFreePolymorphism of ABCB1/MDR1 C3435T in children and adolescents with partial epilepsy is due to different criteria for drug resistance - preliminary results.0.0005428842015ABCB1787509329AT,G
rs14901572052252379750ZNF385Dumls:C0014547GAD[Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.]0.0023670322010ZNF385D321677754CT
rs2475335205225235789PTPRDumls:C0014547GAD[Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.]0.0023670322010PTPRD910260263CT
rs260182820522523115ADCY9umls:C0014547GAD[Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.]0.1223670322010ADCY9164053870TC
rs260182820522523115ADCY9umls:C0014547GWASCATCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association study.0.1223670322010ADCY9164053870TC
rs2841498205225234915NTRK2umls:C0014547GAD[Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.]0.0023670322010NA985315130AC
rs3462912052252383699SH3BGRL2umls:C0014547GAD[Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.]0.0023670322010C6orf7679855119CT
rs3462912052252389758C6orf7umls:C0014547GWASCATCommon genetic variation and susceptibility to partial epilepsies: a genome-wide association study.0.122010C6orf7679855119CT
rs3755724255952637079TIMP4umls:C0014547BeFreeContribution of TIMP4 rs3755724 polymorphism to susceptibility to focal epilepsy in Malaysian Chinese.0.0002714422014SYN2;TIMP4312159406CT
rs3812718222928516323SCN1Aumls:C0014547BeFreeThe 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.0.0067200332012SCN1A2166053034CT
rs397514679260968376853SYN1umls:C0014547BeFreeWe recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder.0.0005428842015SYN1X47574321GA
rs617380092192259857094CPA6umls:C0014547BeFreeScreening 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.0.0008143262012CPA6867483807CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:74)
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
196025546rs1396626GArs1396626205225233.36E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
197721227rs493517AGrs493517205225235.13E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
197721392rs495257AGrs495257205225236.06E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1119836236rs11580295CTrs11580295205225234.36E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1186875459rs10798069GTrs10798069205225238.41E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1194269455rs1018626GArs1018626205225232.61E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
28235239rs6712604TCrs6712604205225232.14E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2117100160rs6751658AGrs6751658205225237.66E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2117126557rs11123348GArs11123348205225237.03E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2154745009rs16834756AGrs16834756205225234.89E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2166913962rs545331GArs545331205225234.62E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2180443444rs1515308TCrs1515308205225235.70E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2180452188rs2138196GArs2138196205225235.97E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2205366339rs4556959AGrs4556959205225231.70E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2223567016rs951997AGrs951997205225232.00E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2234386803rs745155TGrs745155205225237.61E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
312998180rs2600328TCrs2600328205225237.97E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
313626592rs3773283TCrs3773283205225232.92E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
313630307rs3773282TCrs3773282205225231.08E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
321686466rs1387822GArs1387822205225232.92E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
321701712rs1320292AGrs1320292205225231.61E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
321714103rs986503AGrs986503205225234.31E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
321719246rs1490157CTrs1490157205225235.00E-06NA1.2[1.11-1.32] Up to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
321726363rs4298061GTrs4298061205225233.14E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
378325071rs1512486AGrs1512486205225237.42E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
3151075674rs6790448AGrs6790448205225236.96E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
3160283815rs3806629CArs3806629205225233.71E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
438529130rs11942117CTrs11942117205225238.29E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
438537708rs923665TCrs923665205225233.74E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
462407327rs1565901CTrs1565901205225235.00E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
462416499rs2132074GArs2132074205225231.28E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
462445246rs10018746TCrs10018746205225234.49E-06NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
462453209rs2172802AGrs2172802205225233.00E-06NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
462487688rs1948616CTrs1948616205225238.62E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
494572864rs6848888TCrs6848888205225231.63E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
4183255434rs1516537GArs1516537205225238.88E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
519160015rs9637779AGrs9637779205225233.28E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
642901120rs4714634GArs4714634205225239.86E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
662563667rs511137TCrs511137205225237.71E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
680564519rs9341799TCrs9341799205225234.82E-07NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
680564836rs346291CTrs346291205225233.00E-07NA1.2[1.12-1.30] Up to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
680597212rs1120229CTrs1120229205225232.23E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
6129820505rs17752721CTrs17752721205225237.39E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
6155164271rs1106753GArs1106753205225237.55E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
879447414rs7837755TCrs7837755205225239.74E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
910260263rs2475335CTrs2475335205225239.00E-06NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
987930045rs2841498ACrs2841498205225234.00E-06NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
987992789rs2814734ACrs2814734205225234.43E-06NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
988009220rs2593018TCrs2593018205225234.29E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
990487924rs4072799TGrs4072799205225232.39E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1067653901rs1942006CTrs1942006205225232.12E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1067671031rs17239966TCrs17239966205225236.69E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1070987060rs10823320AGrs10823320205225233.43E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1072287444rs11819622GTrs11819622205225232.30E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1078062571rs2573555AGrs2573555205225236.48E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1087750258rs17318292TCrs17318292205225236.14E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
10134554926rs12267364CTrs12267364205225235.48E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1126007640rs12273504CTrs12273504205225237.48E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
123352543rs4765723TGrs4765723205225236.01E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1210854537rs2305849CTrs2305849205225232.26E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1210856255rs2418103AGrs2418103205225231.42E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
12119535001rs11609210GArs11609210205225238.95E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
12119535709rs11611821TCrs11611821205225237.26E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1395088866rs1886049GArs1886049205225238.82E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
14105974781rs10151805TCrs10151805205225232.37E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
14105998544rs4074453TCrs4074453205225238.48E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1526985509rs10152421GArs10152421205225235.28E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1560374681rs17269978TCrs17269978205225235.35E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
164103871rs2601828TCrs2601828205225231.00E-06NA1.12[1.12-1.31] Up to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyrs2601828-AMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1623944483rs3785392AGrs3785392205225233.63E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1623959420rs1989647GArs1989647205225231.28E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1686131064rs4843349GArs4843349205225237.99E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1853135894rs2924329GArs2924329205225239.37E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1929599650rs8103835AGrs8103835205225239.37E-05NANANAUp to 3,445 European ancestry cases; 6,935 European ancestry controlsEuropean(10380)ALL(10380)EUR(10380)ALL(10380)Partial epilepsiesHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004828Epilepsies, PartialNANAEpilepsyNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:15)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0014547carbamazepineD002220298-46-4epilepsies, partialMESH:D004828therapeutic10331832
C0014547cefotaximeD00243963527-52-6epilepsies, partialMESH:D004828marker/mechanism3110537
C0014547chlorambucilD002699305-03-3epilepsies, partialMESH:D004828marker/mechanism118440
C0014547clozapineD0030245786-21-0epilepsies, partialMESH:D004828marker/mechanism9825078
C0014547ethosuximideD00501377-67-8epilepsies, partialMESH:D004828therapeutic3922381
C0014547felbamateC04736025451-15-4epilepsies, partialMESH:D004828therapeutic11518421
C0014547lamotrigineC04778184057-84-1epilepsies, partialMESH:D004828therapeutic10728528
C0014547methotrexateD0087271959/5/2epilepsies, partialMESH:D004828marker/mechanism11992760
C0014547phenytoinD01067257-41-0epilepsies, partialMESH:D004828therapeutic11558140
C0014547picrotoxinD010852124-87-8epilepsies, partialMESH:D004828marker/mechanism8332623
C0014547pilocarpineD01086292-13-7epilepsies, partialMESH:D004828marker/mechanism12467714
C0014547topiramateC05234297240-79-4epilepsies, partialMESH:D004828therapeutic15642451
C0014547trimethadioneD014293127-48-0epilepsies, partialMESH:D004828therapeutic3922381
C0014547valproic acidD01463599-66-1epilepsies, partialMESH:D004828therapeutic14557592
C0014547vigabatrinD02088860643-86-9epilepsies, partialMESH:D004828therapeutic10534259
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)