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PedAM

Pediatric Disease Annotations & Medicines



   epilepsy
  

Disease ID 532
Disease epilepsy
Definition
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Synonym
(epilepsy) or (epileptic attack)
(epilepsy) or (epileptic attack) (disorder)
attack - epileptic
attacks epileptic
convulsion epileptic
disorder epilepsy
disorder seizure
disorder seizures
disorders epileptic
disorders seizure
disorders seizures
ef - epileptic fit
ep - epilepsy
epilectic attack, nos
epilepsia
epilepsies
epilepsis
epilepsy (disorder)
epilepsy [disease/finding]
epilepsy all types
epilepsy nos
epilepsy nos (disorder)
epilepsy types
epilepsy, nos
epilepsy, unspecified
epileptic
epileptic attack
epileptic attack, nos
epileptic convulsion
epileptic convulsions
epileptic convulsions, nos
epileptic disorder
epileptic disorder, nos
epileptic fit
epileptic fits
epileptic fits, nos
epileptic seizure
epileptic seizure (finding)
epileptic seizures
epileptic seizures, nos
epileptics
seizure dis
seizure disorder
seizure disorder (disorder)
seizure disorder nos
seizure disorders
seizure epileptic
seizure syndrome
seizure, epileptic
seizures syndrome
seizures syndromes
seizures, epileptic
syndrome seizure
DOID
UMLS
C0014544
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:287)
C0011570  |  depression  |  65
C0003467  |  anxiety  |  36
C0025362  |  mental retardation  |  36
C0004352  |  autism  |  35
C0041341  |  tuberous sclerosis  |  32
C0038220  |  status epilepticus  |  27
C0033975  |  psychosis  |  21
C0014544  |  epileptic seizure  |  20
C0014544  |  epileptic seizures  |  18
C0041341  |  tuberous sclerosis complex  |  18
C0149931  |  migraine  |  13
C0004134  |  ataxia  |  13
C0014038  |  encephalitis  |  12
C0342418  |  hypothalamic hamartoma  |  12
C0035372  |  rett syndrome  |  11
C0014556  |  temporal lobe epilepsy  |  11
C0014553  |  absence seizures  |  10
C0007789  |  cerebral palsy  |  10
C0037317  |  sleep disturbance  |  9
C0007758  |  cerebellar ataxia  |  9
C0679466  |  cognitive deficits  |  9
C0497327  |  dementia  |  8
C0037317  |  sleep disturbances  |  8
C0014547  |  focal epilepsy  |  7
C0003469  |  anxiety disorder  |  7
C0026846  |  muscular atrophy  |  7
C0026847  |  spinal muscular atrophy  |  7
C0238111  |  lennox-gastaut syndrome  |  7
C0751122  |  dravet syndrome  |  7
C0042373  |  vascular disease  |  6
C0039614  |  tetanus  |  6
C0003469  |  anxiety disorders  |  6
C0014544  |  epilepsies  |  5
C0011847  |  diabetes  |  5
C0004936  |  mental disorders  |  5
C0018552  |  hamartomas  |  5
C0159020  |  neonatal seizures  |  5
C0751651  |  mitochondrial disease  |  5
C0851578  |  sleep disorders  |  5
C0005586  |  bipolar disorder  |  5
C0033975  |  psychotic disorder  |  5
C1861784  |  cerebral cavernous malformations  |  5
C0342418  |  hypothalamic hamartomas  |  5
C0024141  |  systemic lupus erythematosus  |  5
C0025958  |  microcephaly  |  5
C0009241  |  cognitive disorders  |  4
C0014544  |  epileptic attack  |  4
C0040188  |  tic disorders  |  4
C0020255  |  hydrocephalus  |  4
C0007570  |  celiac disease  |  4
C0014544  |  epilepsy  |  4
C1959589  |  cavernous angioma  |  4
C0010678  |  cysticercosis  |  4
C0018552  |  hamartoma  |  4
C0033975  |  psychoses  |  4
C0037769  |  infantile spasms  |  4
C0026769  |  multiple sclerosis  |  4
C0162635  |  angelman syndrome  |  4
C0013421  |  dystonia  |  4
C0007222  |  cardiovascular disease  |  4
C0409974  |  lupus erythematosus  |  4
C0036341  |  schizophrenia  |  4
C0002395  |  alzheimer's disease  |  4
C0948265  |  metabolic syndrome  |  3
C1266177  |  dysembryoplastic neuroepithelial tumor  |  3
C0014544  |  seizure disorder  |  3
C0037315  |  sleep apnea  |  3
C0034150  |  purpura  |  3
C0029001  |  onchocerciasis  |  3
C0004114  |  astrocytoma  |  3
C0007570  |  coeliac disease  |  3
C0041408  |  turner syndrome  |  3
C1856113  |  mowat-wilson syndrome  |  3
C0033975  |  psychotic disorders  |  3
C0023264  |  leigh syndrome  |  3
C0027765  |  neurological disorder  |  3
C1263846  |  attention deficit hyperactivity disorder  |  3
C0042769  |  viral illness  |  3
C0022716  |  menkes disease  |  3
C0040558  |  toxoplasmosis  |  2
C0268579  |  ketotic hyperglycinemia  |  2
C0027868  |  neuromuscular disease  |  2
C0547030  |  visual disturbances  |  2
C0236792  |  asperger's syndrome  |  2
C0013720  |  ehlers-danlos syndrome  |  2
C0030567  |  parkinson's disease  |  2
C0016667  |  fragile x syndrome  |  2
C0041696  |  major depression  |  2
C0019202  |  wilson's disease  |  2
C0751651  |  mitochondrial disorder  |  2
C0018916  |  angioma  |  2
C0751651  |  mitochondrial diseases  |  2
C0270853  |  juvenile myoclonic epilepsy  |  2
C0751651  |  mitochondrial disorders  |  2
C0028754  |  obesity  |  2
C0033953  |  sexual dysfunction  |  2
C0520679  |  obstructive sleep apnea  |  2
C0547030  |  visual disturbance  |  2
C0021053  |  immune disorders  |  2
C0029456  |  osteoporosis  |  2
C0013384  |  dyskinesia  |  2
C0036439  |  scoliosis  |  2
C0033953  |  sexual disorders  |  2
C0011854  |  type 1 diabetes  |  2
C0524851  |  neurodegenerative disorders  |  2
C1868720  |  periventricular nodular heterotopia  |  2
C0020676  |  hypothyroidism  |  2
C0042870  |  vitamin d deficiency  |  2
C0221355  |  macrocephaly  |  2
C0021053  |  immune disorder  |  2
C0026654  |  moyamoya disease  |  2
C0014547  |  partial epilepsy  |  2
C0042870  |  vitamin d defic  |  2
C0024530  |  malaria  |  2
C0085113  |  neurofibromatosis  |  2
C0019348  |  herpes simplex  |  2
C0030319  |  panic disorder  |  2
C0017636  |  glioblastoma  |  2
C0270850  |  idiopathic generalized epilepsy  |  2
C0023798  |  lipoma  |  2
C0011854  |  type 1 diabetes mellitus  |  2
C0206716  |  gangliogliomas  |  2
C0154723  |  migraine with aura  |  2
C0243010  |  viral encephalitis  |  2
C0023529  |  periventricular leukomalacia  |  2
C0035078  |  renal failure  |  2
C0752120  |  spinocerebellar ataxia type 1  |  2
C0026654  |  moyamoya  |  2
C0004153  |  atherosclerosis  |  2
C0005940  |  osteopathy  |  1
C0000786  |  spontaneous abortion  |  1
C0042373  |  vascular disorders  |  1
C0004096  |  asthma  |  1
C0023891  |  alcoholic liver cirrhosis  |  1
C0022116  |  ischemia  |  1
C0153633  |  brain cancer  |  1
C0268583  |  methylmalonic acidemia  |  1
C1261175  |  pontocerebellar hypoplasia  |  1
C0014547  |  partial epilepsies  |  1
C0078981  |  arachnoid cyst  |  1
C0037315  |  sleep apnea syndrome  |  1
C0751748  |  non-ketotic hyperglycinemia  |  1
C0020619  |  hypogonadism  |  1
C0266526  |  norrie disease  |  1
C0038522  |  subacute sclerosing panencephalitis  |  1
C0037769  |  west syndrome  |  1
C0042075  |  urological disorders  |  1
C0234166  |  hyperexplexia  |  1
C0007785  |  cerebral infarct  |  1
C0006109  |  chronic enceph  |  1
C0751783  |  lafora disease  |  1
C0004114  |  astrocytic tumor  |  1
C0032460  |  polycystic ovary syndrome  |  1
C0002395  |  alzheimer disease  |  1
C0012546  |  diphtheria  |  1
C0878544  |  cardiomyopathy  |  1
C0019880  |  homocystinuria  |  1
C0018553  |  cowden syndrome  |  1
C0021831  |  bowel disease  |  1
C0007785  |  cerebral infarction  |  1
C0030443  |  periodic paralysis  |  1
C0442874  |  neuropathy  |  1
C0410528  |  skeletal dysplasia  |  1
C0030305  |  pancreatitis  |  1
C0004114  |  astrocytomas  |  1
C0032285  |  pneumonia  |  1
C0149931  |  migraine headaches  |  1
C0011849  |  diabetes mellitus  |  1
C0334583  |  pilocytic astrocytoma  |  1
C0205768  |  subependymal giant cell astrocytoma  |  1
C0014553  |  petit mal seizure  |  1
C0022658  |  nephropathy  |  1
C0015930  |  fetal distress  |  1
C0524851  |  neurodegenerative disease  |  1
C0017205  |  gaucher's disease  |  1
C0152025  |  polyneuropathy  |  1
C0038436  |  post-traumatic stress disorder  |  1
C0011615  |  atopic dermatitis  |  1
C0011854  |  type i diabetes  |  1
C0001339  |  acute pancreatitis  |  1
C0031212  |  personality disorders  |  1
C0041671  |  attention deficit disorder  |  1
C0743039  |  progressive dementia  |  1
C0266463  |  lissencephaly  |  1
C0033375  |  prolactinomas  |  1
C0020598  |  hypoglycaemia  |  1
C0006017  |  pertussis  |  1
C0175695  |  sotos syndrome  |  1
C0205710  |  alpers-huttenlocher syndrome  |  1
C0043325  |  xanthomatosis  |  1
C0206716  |  ganglioglioma  |  1
C0042373  |  vascular disorder  |  1
C0751778  |  progressive myoclonus epilepsy  |  1
C0151620  |  hypertensive encephalopathy  |  1
C0030805  |  pemphigoid  |  1
C0004943  |  behcet's disease  |  1
C0016395  |  focal dermal hypoplasia  |  1
C0011854  |  type i diabetes mellitus  |  1
C0022661  |  chronic renal failure  |  1
C0011334  |  caries  |  1
C0003857  |  arteriovenous malformation  |  1
C1096063  |  intractable epilepsy  |  1
C0039841  |  thiamine deficiency  |  1
C0238052  |  cerebrotendinous xanthomatosis  |  1
C0005586  |  bipolar affective disorder  |  1
C0027765  |  neurologic disorder  |  1
C0042961  |  volvulus  |  1
C0003537  |  aphasia  |  1
C0042769  |  virus infection  |  1
C0027765  |  neurological disease  |  1
C0268128  |  orotic aciduria  |  1
C0023890  |  liver cirrhosis  |  1
C0242350  |  erectile dysfunction  |  1
C0022283  |  hypomelanosis of ito  |  1
C0027051  |  myocardial infarction  |  1
C0041341  |  tuberose sclerosis  |  1
C0175713  |  aicardi syndrome  |  1
C0007820  |  cerebrovascular disorder  |  1
C0002453  |  amenorrhea  |  1
C0162429  |  malnutrition  |  1
C0796004  |  kabuki syndrome  |  1
C0023795  |  urbach-wiethe disease  |  1
C0025286  |  meningioma  |  1
C0268583  |  methylmalonic aciduria  |  1
C0751748  |  nonketotic hyperglycinemia  |  1
C0280793  |  oligoastrocytoma  |  1
C0553662  |  juvenile ra  |  1
C0282512  |  landau-kleffner syndrome  |  1
C1621958  |  glioblastoma multiforme  |  1
C0149931  |  migraine headache  |  1
C0015458  |  parry-romberg syndrome  |  1
C1956097  |  wolf-hirschhorn syndrome  |  1
C0009946  |  conversion disorder  |  1
C0152096  |  trisomy 18  |  1
C0027765  |  neurological disorders  |  1
C0036323  |  schistosomiasis  |  1
C0014544  |  epilepsia  |  1
C0017205  |  gaucher disease  |  1
C0041696  |  major depressive disorder  |  1
C0270740  |  paroxysmal kinesigenic choreoathetosis  |  1
C0021400  |  influenza  |  1
C0037315  |  sleep apneas  |  1
C0007193  |  dilated cardiomyopathy  |  1
C1720189  |  episodic ataxia  |  1
C0014547  |  localization-related epilepsy  |  1
C0007820  |  cerebrovascular disorders  |  1
C0520679  |  obstructive sleep apnea syndrome  |  1
C0268631  |  succinic semialdehyde dehydrogenase deficiency  |  1
C0023520  |  leukodystrophy  |  1
C0039254  |  taeniasis  |  1
C0178664  |  glomerulosclerosis  |  1
C0030499  |  parasitic disease  |  1
C0220754  |  biotinidase deficiency  |  1
C0027765  |  neurologic disorders  |  1
C0014556  |  temporal lobe epilepsies  |  1
C0027051  |  myocardial infarct  |  1
C0220603  |  pediatric brain tumor  |  1
C0085417  |  complex partial epilepsy  |  1
C0029124  |  optic atrophy  |  1
C0022595  |  darier disease  |  1
C0085543  |  epilepsia partialis continua  |  1
C0023241  |  legionnaire's disease  |  1
C0040560  |  congenital toxoplasmosis  |  1
C0000786  |  spontaneous abortions  |  1
C0011603  |  dermatitis  |  1
C0030499  |  parasitic diseases  |  1
C0006111  |  brain disorders  |  1
C0002871  |  anemia  |  1
C0036454  |  visual field loss  |  1
C0008029  |  cherubism  |  1
C0002895  |  sickle cell anemia  |  1
C0037274  |  cutaneous disorders  |  1
C0175683  |  citrullinemia  |  1
C0006111  |  brain disorder  |  1
C0024534  |  cerebral malaria  |  1
C0743332  |  focal dystonia  |  1
C0013537  |  eclampsia  |  1
C0021390  |  inflammatory bowel disease  |  1
C0238358  |  hypokalemic periodic paralysis  |  1
C0751122  |  severe myoclonic epilepsy in infancy  |  1
C0029408  |  osteoarthritis  |  1
C0456909  |  blindness  |  1
C0042075  |  urological diseases  |  1
C0751265  |  learning disabilities  |  1
C0014060  |  encephalitis c  |  1
C0085541  |  frontal lobe epilepsy  |  1
C0035579  |  rickets  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:191)
ABCB1  |  5243  |  CTD_human
SLC2A1  |  6513  |  UniProtKB-KW
CPA6  |  57094  |  UniProtKB-KW
KCNQ2  |  3785  |  CTD_human;UniProtKB-KW;GHR
NPY2R  |  4887  |  CTD_human
POMC  |  5443  |  CTD_human
GRIN2B  |  2904  |  CTD_human;UniProtKB-KW
GRIN2A  |  2903  |  CTD_human;UniProtKB-KW
GRIN2D  |  2906  |  UniProtKB-KW
ATP2A2  |  488  |  UniProtKB-KW
CACNB4  |  785  |  UniProtKB-KW;GHR
ARX  |  170302  |  UniProtKB-KW;GHR
GNAO1  |  2775  |  UniProtKB-KW
QARS  |  5859  |  UniProtKB-KW
GRM1  |  2911  |  CTD_human
CHD2  |  1106  |  CTD_human;UniProtKB-KW
ZEB2  |  9839  |  UniProtKB-KW
SCN1A  |  6323  |  CTD_human;GWASCAT;UniProtKB-KW
FRRS1L  |  23732  |  UniProtKB-KW
CLN5  |  1203  |  UniProtKB-KW
CLN8  |  2055  |  UniProtKB-KW
GPX1  |  2876  |  CTD_human
HCN1  |  348980  |  CTD_human;UniProtKB-KW
PIGA  |  5277  |  UniProtKB-KW
SLC1A2  |  6506  |  CTD_human;UniProtKB-KW
SLC1A3  |  6507  |  CTD_human
SLC1A4  |  6509  |  UniProtKB-KW
NPY  |  4852  |  CTD_human
ALG13  |  79868  |  UniProtKB-KW
FOLR1  |  2348  |  CTD_human
SCN8A  |  6334  |  CTD_human;UniProtKB-KW
CHRNA2  |  1135  |  UniProtKB-KW
CHRNA4  |  1137  |  UniProtKB-KW
SEPSECS  |  51091  |  UniProtKB-KW
RELN  |  5649  |  UniProtKB-KW
SLC9A6  |  10479  |  UniProtKB-KW
WDR73  |  84942  |  UniProtKB-KW
POLG  |  5428  |  CTD_human;UniProtKB-KW
DENND5A  |  23258  |  UniProtKB-KW
FLNA  |  2316  |  CTD_human
AKT1  |  207  |  CTD_human
ATP6AP2  |  10159  |  UniProtKB-KW
PIGN  |  23556  |  UniProtKB-KW
PIGT  |  51604  |  UniProtKB-KW
ALB  |  213  |  CTD_human
SPTAN1  |  6709  |  UniProtKB-KW
CNTN2  |  6900  |  UniProtKB-KW
MAPK10  |  5602  |  UniProtKB-KW
IER3IP1  |  51124  |  UniProtKB-KW
EPM2A  |  7957  |  UniProtKB-KW;GHR
CHRNB2  |  1141  |  UniProtKB-KW
PNKP  |  11284  |  UniProtKB-KW
HNRNPU  |  3192  |  UniProtKB-KW
MAST4  |  375449  |  GWASCAT
PRICKLE1  |  144165  |  UniProtKB-KW
PRICKLE2  |  166336  |  UniProtKB-KW
UBE3A  |  7337  |  CTD_human
SCN1B  |  6324  |  UniProtKB-KW
MT-ND1  |  4535  |  UniProtKB-KW
SLC25A22  |  79751  |  UniProtKB-KW
ST3GAL3  |  6487  |  UniProtKB-KW
SLC4A10  |  57282  |  CTD_human
GABRA1  |  2554  |  UniProtKB-KW;GHR
CNNM2  |  54805  |  UniProtKB-KW
SRPX2  |  27286  |  UniProtKB-KW
MEF2C  |  4208  |  CTD_human;UniProtKB-KW
ADRA2B  |  151  |  UniProtKB-KW
KCNH1  |  3756  |  CTD_human;UniProtKB-KW
TSC1  |  7248  |  CTD_human;UniProtKB-KW
TSC2  |  7249  |  CTD_human
KCNJ10  |  3766  |  UniProtKB-KW
RAB39B  |  116442  |  CTD_human
PCDH19  |  57526  |  CTD_human;UniProtKB-KW
CACNA1A  |  773  |  UniProtKB-KW
KIF5A  |  3798  |  UniProtKB-KW
SCN9A  |  6335  |  UniProtKB-KW
TCF4  |  6925  |  UniProtKB-KW
EML1  |  2009  |  UniProtKB-KW
TPP1  |  1200  |  UniProtKB-KW
CAMSAP2  |  23271  |  GWASCAT
AARS  |  16  |  UniProtKB-KW
DCX  |  1641  |  UniProtKB-KW
SYN1  |  6853  |  UniProtKB-KW
FOS  |  2353  |  CTD_human
SYNGAP1  |  8831  |  CTD_human
PCDH7  |  5099  |  GWASCAT
DNM1  |  1759  |  UniProtKB-KW
GABRG2  |  2566  |  UniProtKB-KW
CSTB  |  1476  |  UniProtKB-KW;GHR
CAD  |  790  |  UniProtKB-KW
KCTD7  |  154881  |  UniProtKB-KW
BDNF  |  627  |  CTD_human
CACNA1H  |  8912  |  UniProtKB-KW
CACNA1D  |  776  |  UniProtKB-KW
FAR1  |  84188  |  UniProtKB-KW
ARHGEF9  |  23229  |  UniProtKB-KW
MTOR  |  2475  |  UniProtKB-KW
TBC1D24  |  57465  |  UniProtKB-KW
PRRT2  |  112476  |  UniProtKB-KW
ALDH7A1  |  501  |  UniProtKB-KW
SLC6A1  |  6529  |  UniProtKB-KW
EFHC1  |  114327  |  UniProtKB-KW;GHR
SNIP1  |  79753  |  UniProtKB-KW
ILK  |  3611  |  CTD_human
DEPDC5  |  9681  |  UniProtKB-KW
EXT2  |  2132  |  UniProtKB-KW
CNTNAP2  |  26047  |  CTD_human;UniProtKB-KW
FOSB  |  2354  |  CTD_human
ATIC  |  471  |  UniProtKB-KW
MMP8  |  4317  |  GWASCAT
STX1B  |  112755  |  CTD_human;UniProtKB-KW
PTPRD  |  5789  |  GWASCAT
DEAF1  |  10522  |  UniProtKB-KW
VDAC2  |  7417  |  CTD_human
SCARB2  |  950  |  UniProtKB-KW
ASAH1  |  427  |  UniProtKB-KW
OPRD1  |  4985  |  CTD_human
FGF12  |  2257  |  UniProtKB-KW
KCNC1  |  3746  |  UniProtKB-KW
CASR  |  846  |  UniProtKB-KW
AUTS2  |  26053  |  CTD_human
SLC12A2  |  6558  |  CTD_human
OPRM1  |  4988  |  CTD_human
SLC35A3  |  23443  |  UniProtKB-KW
SIK1  |  150094  |  UniProtKB-KW
ITPA  |  3704  |  UniProtKB-KW
GUF1  |  60558  |  UniProtKB-KW
L2HGDH  |  79944  |  CTD_human
PHF6  |  84295  |  UniProtKB-KW
UBA5  |  79876  |  UniProtKB-KW
DOCK7  |  85440  |  UniProtKB-KW
LGI1  |  9211  |  UniProtKB-KW
VPS53  |  55275  |  UniProtKB-KW
CCDC88A  |  55704  |  UniProtKB-KW
SLC1A1  |  6505  |  CTD_human
PLCB1  |  23236  |  UniProtKB-KW
SCN2A  |  6326  |  CTD_human;UniProtKB-KW
LMNB2  |  84823  |  UniProtKB-KW
KCNMA1  |  3778  |  UniProtKB-KW
PROSC  |  11212  |  UniProtKB-KW
ERN1  |  2081  |  CTD_human
SPATA5  |  166378  |  UniProtKB-KW
PNPO  |  55163  |  UniProtKB-KW
CHRM3  |  1131  |  GWASCAT
SLC35A2  |  7355  |  UniProtKB-KW
CHRM1  |  1128  |  CTD_human
GAL  |  51083  |  UniProtKB-KW
NAGA  |  4668  |  UniProtKB-KW
CLPB  |  81570  |  UniProtKB-KW
CDKL5  |  6792  |  UniProtKB-KW;GHR
CLCN2  |  1181  |  UniProtKB-KW;GHR
GABRB1  |  2560  |  UniProtKB-KW
GABRB3  |  2562  |  CTD_human;UniProtKB-KW
CHRM2  |  1129  |  CTD_human
GFAP  |  2670  |  CTD_human
TXNRD1  |  7296  |  CTD_human
SPARCL1  |  8404  |  CTD_human
AP3B2  |  8120  |  UniProtKB-KW
ARV1  |  64801  |  UniProtKB-KW
WWOX  |  51741  |  UniProtKB-KW
ADSL  |  158  |  UniProtKB-KW
ST3GAL5  |  8869  |  UniProtKB-KW
SZT2  |  23334  |  UniProtKB-KW
ADRA2A  |  150  |  CTD_human
KCNA2  |  3737  |  UniProtKB-KW
KCNB1  |  3745  |  UniProtKB-KW
EEF1A2  |  1917  |  UniProtKB-KW
NECAP1  |  25977  |  UniProtKB-KW
GABRD  |  2563  |  UniProtKB-KW;GHR
STAMBP  |  10617  |  CTD_human
GOSR2  |  9570  |  UniProtKB-KW
BRAT1  |  221927  |  UniProtKB-KW
KCNQ3  |  3786  |  UniProtKB-KW;GHR
KCNAB2  |  8514  |  CTD_human
KCNT1  |  57582  |  UniProtKB-KW
P2RX2  |  22953  |  CTD_human
P2RX4  |  5025  |  CTD_human
ATN1  |  1822  |  UniProtKB-KW
STXBP1  |  6812  |  UniProtKB-KW
VPS13A  |  23230  |  UniProtKB-KW
KCND2  |  3751  |  UniProtKB-KW
PRDM8  |  56978  |  UniProtKB-KW
MDH2  |  4191  |  UniProtKB-KW
ROGDI  |  79641  |  UniProtKB-KW
SLC12A5  |  57468  |  CTD_human;UniProtKB-KW
NPRL2  |  10641  |  UniProtKB-KW
NPRL3  |  8131  |  UniProtKB-KW
NHLRC1  |  378884  |  UniProtKB-KW;GHR
CERS1  |  10715  |  UniProtKB-KW
DIAPH1  |  1729  |  UniProtKB-KW
VDAC1  |  7416  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:65)
5243  |  ABCB1  |  infer
1244  |  ABCC2  |  infer
10947  |  AP3M2  |  infer
477  |  ATP1A2  |  infer
627  |  BDNF  |  infer
773  |  CACNA1A  |  infer
8913  |  CACNA1G  |  infer
8912  |  CACNA1H  |  infer
8911  |  CACNA1I  |  infer
10368  |  CACNG3  |  infer
1135  |  CHRNA2  |  infer
1137  |  CHRNA4  |  infer
1141  |  CHRNB2  |  infer
1181  |  CLCN2  |  infer
26047  |  CNTNAP2  |  infer
1476  |  CSTB  |  infer
1544  |  CYP1A2  |  infer
1548  |  CYP2A6  |  infer
1555  |  CYP2B6  |  infer
1557  |  CYP2C19  |  infer
1558  |  CYP2C8  |  infer
1559  |  CYP2C9  |  infer
1576  |  CYP3A4  |  infer
1577  |  CYP3A5  |  infer
1621  |  DBH  |  infer
2052  |  EPHX1  |  infer
2550  |  GABBR1  |  infer
2554  |  GABRA1  |  infer
2558  |  GABRA5  |  infer
2560  |  GABRB1  |  infer
2562  |  GABRB3  |  infer
2563  |  GABRD  |  infer
2566  |  GABRG2  |  infer
2897  |  GRIK1  |  infer
2914  |  GRM4  |  infer
2944  |  GSTM1  |  infer
2952  |  GSTT1  |  infer
3123  |  HLA-DRB1  |  infer
3240  |  HP  |  infer
3553  |  IL1B  |  infer
3766  |  KCNJ10  |  infer
3760  |  KCNJ3  |  infer
3763  |  KCNJ6  |  infer
3765  |  KCNJ9  |  infer
27094  |  KCNMB3  |  infer
3785  |  KCNQ2  |  infer
3786  |  KCNQ3  |  infer
10656  |  KHDRBS3  |  infer
163175  |  LGI4  |  infer
4128  |  MAOA  |  infer
4524  |  MTHFR  |  infer
4548  |  MTR  |  infer
4552  |  MTRR  |  infer
8856  |  NR1I2  |  infer
4988  |  OPRM1  |  infer
5080  |  PAX6  |  infer
5173  |  PDYN  |  infer
10928  |  RALBP1  |  infer
6323  |  SCN1A  |  infer
6324  |  SCN1B  |  infer
6470  |  SHMT1  |  infer
6508  |  SLC4A3  |  infer
54658  |  UGT1A1  |  infer
54578  |  UGT1A6  |  infer
7364  |  UGT2B7  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:1351)
147429  |  AQP4-AS1  |  DISEASES
147081  |  CRHR1-IT1  |  DISEASES
6405  |  SEMA3F  |  DISEASES
10368  |  CACNG3  |  DISEASES
10928  |  RALBP1  |  DISEASES
2554  |  GABRA1  |  DISEASES
84245  |  MRI1  |  DISEASES
65078  |  RTN4R  |  DISEASES
340533  |  KIAA2022  |  DISEASES
4826  |  NNAT  |  DISEASES
3631  |  INPP4A  |  DISEASES
55650  |  PIGV  |  DISEASES
3784  |  KCNQ1  |  DISEASES
53615  |  MBD3  |  DISEASES
3385  |  ICAM3  |  DISEASES
7132  |  TNFRSF1A  |  DISEASES
4804  |  NGFR  |  DISEASES
10947  |  AP3M2  |  DISEASES
9741  |  LAPTM4A  |  DISEASES
771  |  CA12  |  DISEASES
9108  |  MTMR7  |  DISEASES
9697  |  TRAM2  |  DISEASES
56131  |  PCDHB4  |  DISEASES
28954  |  REM1  |  DISEASES
343641  |  TGM6  |  DISEASES
23409  |  SIRT4  |  DISEASES
51324  |  SPG21  |  DISEASES
350  |  APOH  |  DISEASES
2940  |  GSTA3  |  DISEASES
5603  |  MAPK13  |  DISEASES
28978  |  TMEM14A  |  DISEASES
23411  |  SIRT1  |  DISEASES
112755  |  STX1B  |  DISEASES
27006  |  FGF22  |  DISEASES
100037417  |  DDTL  |  DISEASES
57026  |  PDXP  |  DISEASES
3162  |  HMOX1  |  DISEASES
158  |  ADSL  |  DISEASES
5816  |  PVALB  |  DISEASES
3002  |  GZMB  |  DISEASES
328  |  APEX1  |  DISEASES
9362  |  CPNE6  |  DISEASES
1591  |  CYP24A1  |  DISEASES
1917  |  EEF1A2  |  DISEASES
5173  |  PDYN  |  DISEASES
5020  |  OXT  |  DISEASES
140679  |  SLC32A1  |  DISEASES
1472  |  CST4  |  DISEASES
2742  |  GLRA2  |  DISEASES
7076  |  TIMP1  |  DISEASES
4313  |  MMP2  |  DISEASES
79152  |  FA2H  |  DISEASES
9100  |  USP10  |  DISEASES
7249  |  TSC2  |  DISEASES
10273  |  STUB1  |  DISEASES
3163  |  HMOX2  |  DISEASES
6530  |  SLC6A2  |  DISEASES
1666  |  DECR1  |  DISEASES
2936  |  GSR  |  DISEASES
4741  |  NEFM  |  DISEASES
57030  |  SLC17A7  |  DISEASES
6511  |  SLC1A6  |  DISEASES
973  |  CD79A  |  DISEASES
7087  |  ICAM5  |  DISEASES
6822  |  SULT2A1  |  DISEASES
1628  |  DBP  |  DISEASES
2057  |  EPOR  |  DISEASES
1749  |  DLX5  |  DISEASES
858  |  CAV2  |  DISEASES
6804  |  STX1A  |  DISEASES
1577  |  CYP3A5  |  DISEASES
26157  |  GIMAP2  |  DISEASES
2218  |  FKTN  |  DISEASES
9570  |  GOSR2  |  DISEASES
55163  |  PNPO  |  DISEASES
6198  |  RPS6KB1  |  DISEASES
9487  |  PIGL  |  DISEASES
40  |  ASIC2  |  DISEASES
6347  |  CCL2  |  DISEASES
786  |  CACNG1  |  DISEASES
24145  |  PANX1  |  DISEASES
341359  |  SYT10  |  DISEASES
55846  |  ITFG2  |  DISEASES
3458  |  IFNG  |  DISEASES
4848  |  CNOT2  |  DISEASES
2597  |  GAPDH  |  DISEASES
2026  |  ENO2  |  DISEASES
55907  |  CMAS  |  DISEASES
1432  |  MAPK14  |  DISEASES
81491  |  GPR63  |  DISEASES
9896  |  FIG4  |  DISEASES
6908  |  TBP  |  DISEASES
1007  |  CDH9  |  DISEASES
2916  |  GRM6  |  DISEASES
51294  |  PCDH12  |  DISEASES
51185  |  CRBN  |  DISEASES
10641  |  NPRL2  |  DISEASES
7781  |  SLC30A3  |  DISEASES
5967  |  REG1A  |  DISEASES
3485  |  IGFBP2  |  DISEASES
3769  |  KCNJ13  |  DISEASES
3554  |  IL1R1  |  DISEASES
1746  |  DLX2  |  DISEASES
5341  |  PLEK  |  DISEASES
1185  |  CLCN6  |  DISEASES
6301  |  SARS  |  DISEASES
8574  |  AKR7A2  |  DISEASES
6543  |  SLC8A2  |  DISEASES
9429  |  ABCG2  |  DISEASES
8987  |  STBD1  |  DISEASES
5507  |  PPP1R3C  |  DISEASES
3641  |  INSL4  |  DISEASES
56122  |  PCDHB14  |  DISEASES
8600  |  TNFSF11  |  DISEASES
1958  |  EGR1  |  DISEASES
3764  |  KCNJ8  |  DISEASES
2703  |  GJA8  |  DISEASES
847  |  CAT  |  DISEASES
4852  |  NPY  |  DISEASES
7291  |  TWIST1  |  DISEASES
5552  |  SRGN  |  DISEASES
1959  |  EGR2  |  DISEASES
35  |  ACADS  |  DISEASES
206358  |  SLC36A1  |  DISEASES
3759  |  KCNJ2  |  DISEASES
5266  |  PI3  |  DISEASES
514  |  ATP5E  |  DISEASES
5335  |  PLCG1  |  DISEASES
3991  |  LIPE  |  DISEASES
56269  |  IRGC  |  DISEASES
26268  |  FBXO9  |  DISEASES
51081  |  MRPS7  |  DISEASES
80255  |  SLC35F5  |  DISEASES
2354  |  FOSB  |  DISEASES
64860  |  ARMCX5  |  DISEASES
7389  |  UROD  |  DISEASES
7355  |  SLC35A2  |  DISEASES
26030  |  PLEKHG3  |  DISEASES
4974  |  OMG  |  DISEASES
821  |  CANX  |  DISEASES
391013  |  PLA2G2C  |  DISEASES
3315  |  HSPB1  |  DISEASES
51657  |  STYXL1  |  DISEASES
57622  |  LRFN1  |  DISEASES
8484  |  GALR3  |  DISEASES
54982  |  CLN6  |  DISEASES
1315  |  COPB1  |  DISEASES
7166  |  TPH1  |  DISEASES
968  |  CD68  |  DISEASES
6351  |  CCL4  |  DISEASES
599  |  BCL2L2  |  DISEASES
5908  |  RAP1B  |  DISEASES
3630  |  INS  |  DISEASES
23503  |  ZFYVE26  |  DISEASES
259232  |  NALCN  |  DISEASES
7283  |  TUBG1  |  DISEASES
1890  |  TYMP  |  DISEASES
348  |  APOE  |  DISEASES
1463  |  NCAN  |  DISEASES
2056  |  EPO  |  DISEASES
3727  |  JUND  |  DISEASES
25814  |  ATXN10  |  DISEASES
1968  |  EIF2S3  |  DISEASES
6535  |  SLC6A8  |  DISEASES
23229  |  ARHGEF9  |  DISEASES
2670  |  GFAP  |  DISEASES
1327  |  COX4I1  |  DISEASES
10328  |  EMC8  |  DISEASES
8572  |  PDLIM4  |  DISEASES
8500  |  PPFIA1  |  DISEASES
79652  |  TMEM204  |  DISEASES
2521  |  FUS  |  DISEASES
57663  |  USP29  |  DISEASES
6538  |  SLC6A11  |  DISEASES
6616  |  SNAP25  |  DISEASES
1401  |  CRP  |  DISEASES
4922  |  NTS  |  DISEASES
759  |  CA1  |  DISEASES
78986  |  DUSP26  |  DISEASES
11161  |  C14orf1  |  DISEASES
57578  |  UNC79  |  DISEASES
51124  |  IER3IP1  |  DISEASES
3656  |  IRAK2  |  DISEASES
10752  |  CHL1  |  DISEASES
54407  |  SLC38A2  |  DISEASES
60561  |  RINT1  |  DISEASES
2016  |  EMX1  |  DISEASES
27345  |  KCNMB4  |  DISEASES
80896  |  NPL  |  DISEASES
5279  |  PIGC  |  DISEASES
1593  |  CYP27A1  |  DISEASES
26122  |  EPC2  |  DISEASES
3569  |  IL6  |  DISEASES
2572  |  GAD2  |  DISEASES
9649  |  RALGPS1  |  DISEASES
9568  |  GABBR2  |  DISEASES
347733  |  TUBB2B  |  DISEASES
3134  |  HLA-F  |  DISEASES
1588  |  CYP19A1  |  DISEASES
6496  |  SIX3  |  DISEASES
1559  |  CYP2C9  |  DISEASES
23314  |  SATB2  |  DISEASES
29081  |  METTL5  |  DISEASES
9360  |  PPIG  |  DISEASES
3417  |  IDH1  |  DISEASES
1419  |  CRYGB  |  DISEASES
9194  |  SLC16A7  |  DISEASES
6857  |  SYT1  |  DISEASES
3093  |  UBE2K  |  DISEASES
5629  |  PROX1  |  DISEASES
23504  |  RIMBP2  |  DISEASES
7597  |  ZBTB25  |  DISEASES
6532  |  SLC6A4  |  DISEASES
59341  |  TRPV4  |  DISEASES
1143  |  CHRNB4  |  DISEASES
80208  |  SPG11  |  DISEASES
10021  |  HCN4  |  DISEASES
23531  |  MMD  |  DISEASES
27092  |  CACNG4  |  DISEASES
79726  |  WDR59  |  DISEASES
7434  |  VIPR2  |  DISEASES
3757  |  KCNH2  |  DISEASES
6505  |  SLC1A1  |  DISEASES
56052  |  ALG1  |  DISEASES
6521  |  SLC4A1  |  DISEASES
284058  |  KANSL1  |  DISEASES
6558  |  SLC12A2  |  DISEASES
2775  |  GNAO1  |  DISEASES
9739  |  SETD1A  |  DISEASES
5976  |  UPF1  |  DISEASES
7224  |  TRPC5  |  DISEASES
11043  |  MID2  |  DISEASES
25939  |  SAMHD1  |  DISEASES
3783  |  KCNN4  |  DISEASES
2901  |  GRIK5  |  DISEASES
9132  |  KCNQ4  |  DISEASES
5595  |  MAPK3  |  DISEASES
55526  |  DHTKD1  |  DISEASES
22858  |  ICK  |  DISEASES
9609  |  RAB36  |  DISEASES
57084  |  SLC17A6  |  DISEASES
6855  |  SYP  |  DISEASES
2033  |  EP300  |  DISEASES
55686  |  MREG  |  DISEASES
2906  |  GRIN2D  |  DISEASES
3553  |  IL1B  |  DISEASES
8775  |  NAPA  |  DISEASES
9424  |  KCNK6  |  DISEASES
23476  |  BRD4  |  DISEASES
5582  |  PRKCG  |  DISEASES
55572  |  FOXRED1  |  DISEASES
25927  |  CNRIP1  |  DISEASES
7301  |  TYRO3  |  DISEASES
10000  |  AKT3  |  DISEASES
3791  |  KDR  |  DISEASES
6548  |  SLC9A1  |  DISEASES
8527  |  DGKD  |  DISEASES
8942  |  KYNU  |  DISEASES
2557  |  GABRA4  |  DISEASES
7531  |  YWHAE  |  DISEASES
2892  |  GRIA3  |  DISEASES
57575  |  PCDH10  |  DISEASES
8745  |  ADAM23  |  DISEASES
590  |  BCHE  |  DISEASES
8452  |  CUL3  |  DISEASES
2891  |  GRIA2  |  DISEASES
2743  |  GLRB  |  DISEASES
9693  |  RAPGEF2  |  DISEASES
2247  |  FGF2  |  DISEASES
27338  |  UBE2S  |  DISEASES
6774  |  STAT3  |  DISEASES
84961  |  FBXL20  |  DISEASES
80725  |  SRCIN1  |  DISEASES
83891  |  SNX25  |  DISEASES
5443  |  POMC  |  DISEASES
8626  |  TP63  |  DISEASES
3781  |  KCNN2  |  DISEASES
2162  |  F13A1  |  DISEASES
950  |  SCARB2  |  DISEASES
3827  |  KNG1  |  DISEASES
4171  |  MCM2  |  DISEASES
6507  |  SLC1A3  |  DISEASES
64374  |  SIL1  |  DISEASES
6722  |  SRF  |  DISEASES
1390  |  CREM  |  DISEASES
793  |  CALB1  |  DISEASES
9379  |  NRXN2  |  DISEASES
1181  |  CLCN2  |  DISEASES
4885  |  NPTX2  |  DISEASES
51083  |  GAL  |  DISEASES
5243  |  ABCB1  |  DISEASES
53616  |  ADAM22  |  DISEASES
10863  |  ADAM28  |  DISEASES
6595  |  SMARCA2  |  DISEASES
3746  |  KCNC1  |  DISEASES
9044  |  BTAF1  |  DISEASES
22849  |  CPEB3  |  DISEASES
8892  |  EIF2B2  |  DISEASES
429  |  ASCL1  |  DISEASES
6821  |  SUOX  |  DISEASES
79944  |  L2HGDH  |  DISEASES
59274  |  MESDC1  |  DISEASES
1583  |  CYP11A1  |  DISEASES
3073  |  HEXA  |  DISEASES
5428  |  POLG  |  DISEASES
18  |  ABAT  |  DISEASES
5373  |  PMM2  |  DISEASES
6687  |  SPG7  |  DISEASES
10939  |  AFG3L2  |  DISEASES
4864  |  NPC1  |  DISEASES
7157  |  TP53  |  DISEASES
57332  |  CBX8  |  DISEASES
5211  |  PFKL  |  DISEASES
207  |  AKT1  |  DISEASES
6531  |  SLC6A3  |  DISEASES
93650  |  ACPT  |  DISEASES
25888  |  ZNF473  |  DISEASES
55917  |  CTTNBP2NL  |  DISEASES
3756  |  KCNH1  |  DISEASES
3782  |  KCNN3  |  DISEASES
2052  |  EPHX1  |  DISEASES
5972  |  REN  |  DISEASES
805  |  CALM2  |  DISEASES
23233  |  EXOC6B  |  DISEASES
165257  |  C1QL2  |  DISEASES
79634  |  SCRN3  |  DISEASES
6508  |  SLC4A3  |  DISEASES
25953  |  PNKD  |  DISEASES
51143  |  DYNC1LI1  |  DISEASES
275  |  AMT  |  DISEASES
8893  |  EIF2B5  |  DISEASES
58478  |  ENOPH1  |  DISEASES
100996939  |  PYURF  |  DISEASES
8001  |  GLRA3  |  DISEASES
2559  |  GABRA6  |  DISEASES
2561  |  GABRB2  |  DISEASES
10667  |  FARS2  |  DISEASES
2041  |  EPHA1  |  DISEASES
57502  |  NLGN4X  |  DISEASES
6872  |  TAF1  |  DISEASES
3358  |  HTR2C  |  DISEASES
8973  |  CHRNA6  |  DISEASES
2796  |  GNRH1  |  DISEASES
1392  |  CRH  |  DISEASES
29967  |  LRP12  |  DISEASES
4915  |  NTRK2  |  DISEASES
4851  |  NOTCH1  |  DISEASES
2746  |  GLUD1  |  DISEASES
64106  |  NPFFR1  |  DISEASES
27315  |  PGAP2  |  DISEASES
6506  |  SLC1A2  |  DISEASES
6327  |  SCN2B  |  DISEASES
2904  |  GRIN2B  |  DISEASES
161835  |  FSIP1  |  DISEASES
22948  |  CCT5  |  DISEASES
23657  |  SLC7A11  |  DISEASES
3742  |  KCNA6  |  DISEASES
288  |  ANK3  |  DISEASES
79731  |  NARS2  |  DISEASES
5860  |  QDPR  |  DISEASES
7082  |  TJP1  |  DISEASES
26040  |  SETBP1  |  DISEASES
5741  |  PTH  |  DISEASES
2893  |  GRIA4  |  DISEASES
5013  |  OTX1  |  DISEASES
2697  |  GJA1  |  DISEASES
2911  |  GRM1  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
3192  |  HNRNPU  |  DISEASES
5903  |  RANBP2  |  DISEASES
6328  |  SCN3A  |  DISEASES
6326  |  SCN2A  |  DISEASES
55079  |  FEZF2  |  DISEASES
22878  |  TRAPPC8  |  DISEASES
114791  |  TUBGCP5  |  DISEASES
22934  |  RPIA  |  DISEASES
3773  |  KCNJ16  |  DISEASES
8526  |  DGKE  |  DISEASES
404550  |  C16orf74  |  DISEASES
4900  |  NRGN  |  DISEASES
351  |  APP  |  DISEASES
80746  |  TSEN2  |  DISEASES
760  |  CA2  |  DISEASES
761  |  CA3  |  DISEASES
2890  |  GRIA1  |  DISEASES
483  |  ATP1B3  |  DISEASES
132  |  ADK  |  DISEASES
4838  |  NODAL  |  DISEASES
9131  |  AIFM1  |  DISEASES
6750  |  SST  |  DISEASES
6529  |  SLC6A1  |  DISEASES
5468  |  PPARG  |  DISEASES
26060  |  APPL1  |  DISEASES
3763  |  KCNJ6  |  DISEASES
84274  |  COQ5  |  DISEASES
56896  |  DPYSL5  |  DISEASES
57477  |  SHROOM4  |  DISEASES
8365  |  HIST1H4H  |  DISEASES
3362  |  HTR6  |  DISEASES
50651  |  SLC45A1  |  DISEASES
1142  |  CHRNB3  |  DISEASES
9992  |  KCNE2  |  DISEASES
57369  |  GJD2  |  DISEASES
8659  |  ALDH4A1  |  DISEASES
114771  |  PGLYRP3  |  DISEASES
808  |  CALM3  |  DISEASES
1476  |  CSTB  |  DISEASES
7109  |  TRAPPC10  |  DISEASES
5822  |  PWP2  |  DISEASES
10841  |  FTCD  |  DISEASES
6285  |  S100B  |  DISEASES
55129  |  ANO10  |  DISEASES
1627  |  DBN1  |  DISEASES
2905  |  GRIN2C  |  DISEASES
3060  |  HCRT  |  DISEASES
162417  |  NAGS  |  DISEASES
50944  |  SHANK1  |  DISEASES
1742  |  DLG4  |  DISEASES
84219  |  WDR24  |  DISEASES
57465  |  TBC1D24  |  DISEASES
23498  |  HAAO  |  DISEASES
3760  |  KCNJ3  |  DISEASES
4760  |  NEUROD1  |  DISEASES
151473  |  SLC16A14  |  DISEASES
30818  |  KCNIP3  |  DISEASES
27306  |  HPGDS  |  DISEASES
2565  |  GABRG1  |  DISEASES
2560  |  GABRB1  |  DISEASES
8320  |  EOMES  |  DISEASES
5274  |  SERPINI1  |  DISEASES
213  |  ALB  |  DISEASES
166336  |  PRICKLE2  |  DISEASES
57406  |  ABHD6  |  DISEASES
6853  |  SYN1  |  DISEASES
7349  |  UCN  |  DISEASES
8927  |  BSN  |  DISEASES
327  |  APEH  |  DISEASES
256471  |  MFSD8  |  DISEASES
153396  |  TMEM161B  |  DISEASES
4724  |  NDUFS4  |  DISEASES
4131  |  MAP1B  |  DISEASES
167153  |  PAPD4  |  DISEASES
63974  |  NEUROD6  |  DISEASES
6469  |  SHH  |  DISEASES
27012  |  KCNV1  |  DISEASES
114788  |  CSMD3  |  DISEASES
4846  |  NOS3  |  DISEASES
9311  |  ASIC3  |  DISEASES
9907  |  AP5Z1  |  DISEASES
57094  |  CPA6  |  DISEASES
115825  |  WDFY2  |  DISEASES
6571  |  SLC18A2  |  DISEASES
7248  |  TSC1  |  DISEASES
143872  |  ARHGAP42  |  DISEASES
26610  |  ELP4  |  DISEASES
9317  |  PTER  |  DISEASES
3990  |  LIPC  |  DISEASES
55832  |  CAND1  |  DISEASES
2562  |  GABRB3  |  DISEASES
5092  |  PCBD1  |  DISEASES
79158  |  GNPTAB  |  DISEASES
55800  |  SCN3B  |  DISEASES
1200  |  TPP1  |  DISEASES
1138  |  CHRNA5  |  DISEASES
2587  |  GALR1  |  DISEASES
29781  |  NCAPH2  |  DISEASES
89832  |  CHRFAM7A  |  DISEASES
10369  |  CACNG2  |  DISEASES
6866  |  TAC3  |  DISEASES
26585  |  GREM1  |  DISEASES
1292  |  COL6A2  |  DISEASES
762  |  CA4  |  DISEASES
7846  |  TUBA1A  |  DISEASES
1548  |  CYP2A6  |  DISEASES
124936  |  CYB5D2  |  DISEASES
4909  |  NTF4  |  DISEASES
146434  |  ZNF597  |  DISEASES
117245  |  HRASLS5  |  DISEASES
5368  |  PNOC  |  DISEASES
81603  |  TRIM8  |  DISEASES
5617  |  PRL  |  DISEASES
51305  |  KCNK9  |  DISEASES
203190  |  LGI3  |  DISEASES
478  |  ATP1A3  |  DISEASES
51621  |  KLF13  |  DISEASES
9839  |  ZEB2  |  DISEASES
79663  |  HSPBAP1  |  DISEASES
598  |  BCL2L1  |  DISEASES
3479  |  IGF1  |  DISEASES
3308  |  HSPA4  |  DISEASES
54578  |  UGT1A6  |  DISEASES
43  |  ACHE  |  DISEASES
8988  |  HSPB3  |  DISEASES
7200  |  TRH  |  DISEASES
83660  |  TLN2  |  DISEASES
6869  |  TACR1  |  DISEASES
6323  |  SCN1A  |  DISEASES
53343  |  NUDT9  |  DISEASES
6249  |  CLIP1  |  DISEASES
7804  |  LRP8  |  DISEASES
166614  |  DCLK2  |  DISEASES
7857  |  SCG2  |  DISEASES
1140  |  CHRNB1  |  DISEASES
7064  |  THOP1  |  DISEASES
5028  |  P2RY1  |  DISEASES
375611  |  SLC26A5  |  DISEASES
7364  |  UGT2B7  |  DISEASES
54658  |  UGT1A1  |  DISEASES
5354  |  PLP1  |  DISEASES
9482  |  STX8  |  DISEASES
57555  |  NLGN2  |  DISEASES
79042  |  TSEN34  |  DISEASES
10815  |  CPLX1  |  DISEASES
3954  |  LETM1  |  DISEASES
53944  |  CSNK1G1  |  DISEASES
161725  |  OTUD7A  |  DISEASES
2915  |  GRM5  |  DISEASES
2353  |  FOS  |  DISEASES
3708  |  ITPR1  |  DISEASES
3777  |  KCNK3  |  DISEASES
7532  |  YWHAG  |  DISEASES
7386  |  UQCRFS1  |  DISEASES
79801  |  SHCBP1  |  DISEASES
1128  |  CHRM1  |  DISEASES
3761  |  KCNJ4  |  DISEASES
51029  |  DESI2  |  DISEASES
4761  |  NEUROD2  |  DISEASES
11337  |  GABARAP  |  DISEASES
51255  |  RNF181  |  DISEASES
9451  |  EIF2AK3  |  DISEASES
5162  |  PDHB  |  DISEASES
4176  |  MCM7  |  DISEASES
794  |  CALB2  |  DISEASES
5859  |  QARS  |  DISEASES
11280  |  SCN11A  |  DISEASES
54205  |  CYCS  |  DISEASES
2752  |  GLUL  |  DISEASES
2348  |  FOLR1  |  DISEASES
27289  |  RND1  |  DISEASES
29909  |  GPR171  |  DISEASES
2147  |  F2  |  DISEASES
134  |  ADORA1  |  DISEASES
1540  |  CYLD  |  DISEASES
5340  |  PLG  |  DISEASES
29925  |  GMPPB  |  DISEASES
54715  |  RBFOX1  |  DISEASES
7534  |  YWHAZ  |  DISEASES
1808  |  DPYSL2  |  DISEASES
3054  |  HCFC1  |  DISEASES
1072  |  CFL1  |  DISEASES
763  |  CA5A  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
8815  |  BANF1  |  DISEASES
23209  |  MLC1  |  DISEASES
54207  |  KCNK10  |  DISEASES
147323  |  STARD6  |  DISEASES
8722  |  CTSF  |  DISEASES
836  |  CASP3  |  DISEASES
266743  |  NPAS4  |  DISEASES
200159  |  C1orf100  |  DISEASES
6712  |  SPTBN2  |  DISEASES
57493  |  HEG1  |  DISEASES
27239  |  GPR162  |  DISEASES
132112  |  RTP1  |  DISEASES
5978  |  REST  |  DISEASES
4245  |  MGAT1  |  DISEASES
4744  |  NEFH  |  DISEASES
7351  |  UCP2  |  DISEASES
163175  |  LGI4  |  DISEASES
1605  |  DAG1  |  DISEASES
78999  |  LRFN4  |  DISEASES
8557  |  TCAP  |  DISEASES
64236  |  PDLIM2  |  DISEASES
3952  |  LEP  |  DISEASES
51762  |  RAB8B  |  DISEASES
124925  |  SEZ6  |  DISEASES
57231  |  SNX14  |  DISEASES
7681  |  MKRN3  |  DISEASES
713  |  C1QB  |  DISEASES
6844  |  VAMP2  |  DISEASES
2907  |  GRINA  |  DISEASES
998  |  CDC42  |  DISEASES
116068  |  LYSMD3  |  DISEASES
3737  |  KCNA2  |  DISEASES
7915  |  ALDH5A1  |  DISEASES
1191  |  CLU  |  DISEASES
151188  |  ARL6IP6  |  DISEASES
1136  |  CHRNA3  |  DISEASES
9495  |  AKAP5  |  DISEASES
3350  |  HTR1A  |  DISEASES
8239  |  USP9X  |  DISEASES
10170  |  DHRS9  |  DISEASES
246213  |  SLC17A8  |  DISEASES
9478  |  CABP1  |  DISEASES
1960  |  EGR3  |  DISEASES
92609  |  TIMM50  |  DISEASES
114932  |  MRFAP1L1  |  DISEASES
4684  |  NCAM1  |  DISEASES
23621  |  BACE1  |  DISEASES
8630  |  HSD17B6  |  DISEASES
27319  |  BHLHE22  |  DISEASES
377677  |  CA13  |  DISEASES
54984  |  PINX1  |  DISEASES
118442  |  GPR62  |  DISEASES
27094  |  KCNMB3  |  DISEASES
3752  |  KCND3  |  DISEASES
205428  |  C3orf58  |  DISEASES
285195  |  SLC9A9  |  DISEASES
6683  |  SPAST  |  DISEASES
4200  |  ME2  |  DISEASES
6863  |  TAC1  |  DISEASES
27133  |  KCNH5  |  DISEASES
1400  |  CRMP1  |  DISEASES
124222  |  PAQR4  |  DISEASES
134957  |  STXBP5  |  DISEASES
23017  |  FAIM2  |  DISEASES
54084  |  TSPEAR  |  DISEASES
79751  |  SLC25A22  |  DISEASES
8818  |  DPM2  |  DISEASES
4723  |  NDUFV1  |  DISEASES
6330  |  SCN4B  |  DISEASES
547  |  KIF1A  |  DISEASES
79641  |  ROGDI  |  DISEASES
3355  |  HTR1F  |  DISEASES
8243  |  SMC1A  |  DISEASES
11284  |  PNKP  |  DISEASES
348932  |  SLC6A18  |  DISEASES
6657  |  SOX2  |  DISEASES
51341  |  ZBTB7A  |  DISEASES
3309  |  HSPA5  |  DISEASES
5179  |  PENK  |  DISEASES
51733  |  UPB1  |  DISEASES
23191  |  CYFIP1  |  DISEASES
1555  |  CYP2B6  |  DISEASES
2932  |  GSK3B  |  DISEASES
3735  |  KARS  |  DISEASES
64332  |  NFKBIZ  |  DISEASES
7025  |  NR2F1  |  DISEASES
148252  |  DIRAS1  |  DISEASES
113457  |  TUBA3D  |  DISEASES
54946  |  SLC41A3  |  DISEASES
5663  |  PSEN1  |  DISEASES
4191  |  MDH2  |  DISEASES
80758  |  PRR7  |  DISEASES
2863  |  GPR39  |  DISEASES
283989  |  TSEN54  |  DISEASES
5034  |  P4HB  |  DISEASES
3768  |  KCNJ12  |  DISEASES
2055  |  CLN8  |  DISEASES
3739  |  KCNA4  |  DISEASES
1946  |  EFNA5  |  DISEASES
6331  |  SCN5A  |  DISEASES
706  |  TSPO  |  DISEASES
10456  |  HAX1  |  DISEASES
400451  |  FAM174B  |  DISEASES
84295  |  PHF6  |  DISEASES
6906  |  SERPINA7  |  DISEASES
8811  |  GALR2  |  DISEASES
51400  |  PPME1  |  DISEASES
255022  |  CALHM1  |  DISEASES
6656  |  SOX1  |  DISEASES
8224  |  SYN3  |  DISEASES
842  |  CASP9  |  DISEASES
84679  |  SLC9A7  |  DISEASES
9021  |  SOCS3  |  DISEASES
79680  |  C22orf29  |  DISEASES
6900  |  CNTN2  |  DISEASES
402569  |  KPNA7  |  DISEASES
10215  |  OLIG2  |  DISEASES
129804  |  FBLN7  |  DISEASES
56001  |  NXF2  |  DISEASES
29035  |  C16orf72  |  DISEASES
2567  |  GABRG3  |  DISEASES
23545  |  ATP6V0A2  |  DISEASES
162540  |  SPPL2C  |  DISEASES
2903  |  GRIN2A  |  DISEASES
5813  |  PURA  |  DISEASES
90249  |  UNC5A  |  DISEASES
80311  |  KLHL15  |  DISEASES
9899  |  SV2B  |  DISEASES
6546  |  SLC8A1  |  DISEASES
10052  |  GJC1  |  DISEASES
3916  |  LAMP1  |  DISEASES
8690  |  JRKL  |  DISEASES
3751  |  KCND2  |  DISEASES
11212  |  PROSC  |  DISEASES
5587  |  PRKD1  |  DISEASES
80258  |  EFHC2  |  DISEASES
170392  |  OIT3  |  DISEASES
10057  |  ABCC5  |  DISEASES
81565  |  NDEL1  |  DISEASES
139886  |  SPIN4  |  DISEASES
8912  |  CACNA1H  |  DISEASES
10732  |  TCFL5  |  DISEASES
9456  |  HOMER1  |  DISEASES
401190  |  RGS7BP  |  DISEASES
5787  |  PTPRB  |  DISEASES
10810  |  WASF3  |  DISEASES
51738  |  GHRL  |  DISEASES
60684  |  TRAPPC11  |  DISEASES
2558  |  GABRA5  |  DISEASES
8541  |  PPFIA3  |  DISEASES
885  |  CCK  |  DISEASES
80254  |  CEP63  |  DISEASES
8856  |  NR1I2  |  DISEASES
5025  |  P2RX4  |  DISEASES
135  |  ADORA2A  |  DISEASES
92335  |  STRADA  |  DISEASES
25771  |  TBC1D22A  |  DISEASES
4987  |  OPRL1  |  DISEASES
1103  |  CHAT  |  DISEASES
3753  |  KCNE1  |  DISEASES
123606  |  NIPA1  |  DISEASES
4842  |  NOS1  |  DISEASES
10011  |  SRA1  |  DISEASES
81614  |  NIPA2  |  DISEASES
1641  |  DCX  |  DISEASES
57142  |  RTN4  |  DISEASES
1576  |  CYP3A4  |  DISEASES
3363  |  HTR7  |  DISEASES
554  |  AVPR2  |  DISEASES
23369  |  PUM2  |  DISEASES
23236  |  PLCB1  |  DISEASES
4004  |  LMO1  |  DISEASES
79957  |  PAQR6  |  DISEASES
6622  |  SNCA  |  DISEASES
9369  |  NRXN3  |  DISEASES
23583  |  SMUG1  |  DISEASES
9209  |  LRRFIP2  |  DISEASES
2290  |  FOXG1  |  DISEASES
6540  |  SLC6A13  |  DISEASES
5329  |  PLAUR  |  DISEASES
84720  |  PIGO  |  DISEASES
63826  |  SRR  |  DISEASES
221927  |  BRAT1  |  DISEASES
817  |  CAMK2D  |  DISEASES
56978  |  PRDM8  |  DISEASES
90139  |  TSPAN18  |  DISEASES
2261  |  FGFR3  |  DISEASES
1180  |  CLCN1  |  DISEASES
54468  |  MIOS  |  DISEASES
3985  |  LIMK2  |  DISEASES
1982  |  EIF4G2  |  DISEASES
89910  |  UBE3B  |  DISEASES
4128  |  MAOA  |  DISEASES
1978  |  EIF4EBP1  |  DISEASES
85440  |  DOCK7  |  DISEASES
4137  |  MAPT  |  DISEASES
4208  |  MEF2C  |  DISEASES
7225  |  TRPC6  |  DISEASES
113675  |  SDSL  |  DISEASES
9324  |  HMGN3  |  DISEASES
344838  |  PAQR9  |  DISEASES
25977  |  NECAP1  |  DISEASES
859  |  CAV3  |  DISEASES
1544  |  CYP1A2  |  DISEASES
1508  |  CTSB  |  DISEASES
132884  |  EVC2  |  DISEASES
2066  |  ERBB4  |  DISEASES
7444  |  VRK2  |  DISEASES
9536  |  PTGES  |  DISEASES
9031  |  BAZ1B  |  DISEASES
11255  |  HRH3  |  DISEASES
3146  |  HMGB1  |  DISEASES
8360  |  HIST1H4D  |  DISEASES
22953  |  P2RX2  |  DISEASES
124454  |  EARS2  |  DISEASES
1809  |  DPYSL3  |  DISEASES
5015  |  OTX2  |  DISEASES
54852  |  PAQR5  |  DISEASES
339451  |  KLHL17  |  DISEASES
26053  |  AUTS2  |  DISEASES
2918  |  GRM8  |  DISEASES
3605  |  IL17A  |  DISEASES
1499  |  CTNNB1  |  DISEASES
875  |  CBS  |  DISEASES
889  |  KRIT1  |  DISEASES
10617  |  STAMBP  |  DISEASES
23114  |  NFASC  |  DISEASES
31  |  ACACA  |  DISEASES
56479  |  KCNQ5  |  DISEASES
144165  |  PRICKLE1  |  DISEASES
144404  |  TMEM120B  |  DISEASES
378884  |  NHLRC1  |  DISEASES
4734  |  NEDD4  |  DISEASES
766  |  CA7  |  DISEASES
3767  |  KCNJ11  |  DISEASES
1861  |  TOR1A  |  DISEASES
224  |  ALDH3A2  |  DISEASES
54820  |  NDE1  |  DISEASES
6176  |  RPLP1  |  DISEASES
1798  |  DPAGT1  |  DISEASES
9863  |  MAGI2  |  DISEASES
8294  |  HIST1H4I  |  DISEASES
4205  |  MEF2A  |  DISEASES
10533  |  ATG7  |  DISEASES
6925  |  TCF4  |  DISEASES
6334  |  SCN8A  |  DISEASES
4948  |  OCA2  |  DISEASES
51385  |  ZNF589  |  DISEASES
116983  |  ACAP3  |  DISEASES
2335  |  FN1  |  DISEASES
84188  |  FAR1  |  DISEASES
204  |  AK2  |  DISEASES
8363  |  HIST1H4J  |  DISEASES
375346  |  TMEM110  |  DISEASES
954  |  ENTPD2  |  DISEASES
50618  |  ITSN2  |  DISEASES
283385  |  MORN3  |  DISEASES
7453  |  WARS  |  DISEASES
51760  |  SYT17  |  DISEASES
4010  |  LMX1B  |  DISEASES
4983  |  OPHN1  |  DISEASES
6904  |  TBCD  |  DISEASES
3359  |  HTR3A  |  DISEASES
1785  |  DNM2  |  DISEASES
114785  |  MBD6  |  DISEASES
10656  |  KHDRBS3  |  DISEASES
8368  |  HIST1H4L  |  DISEASES
27347  |  STK39  |  DISEASES
273  |  AMPH  |  DISEASES
3476  |  IGBP1  |  DISEASES
11152  |  WDR45  |  DISEASES
2555  |  GABRA2  |  DISEASES
23237  |  ARC  |  DISEASES
441478  |  NRARP  |  DISEASES
1822  |  ATN1  |  DISEASES
3084  |  NRG1  |  DISEASES
781  |  CACNA2D1  |  DISEASES
57194  |  ATP10A  |  DISEASES
9463  |  PICK1  |  DISEASES
801  |  CALM1  |  DISEASES
5625  |  PRODH  |  DISEASES
1996  |  ELAVL4  |  DISEASES
51114  |  ZDHHC9  |  DISEASES
60  |  ACTB  |  DISEASES
9961  |  MVP  |  DISEASES
8362  |  HIST1H4K  |  DISEASES
23556  |  PIGN  |  DISEASES
2917  |  GRM7  |  DISEASES
57835  |  SLC4A5  |  DISEASES
6597  |  SMARCA4  |  DISEASES
121504  |  HIST4H4  |  DISEASES
1510  |  CTSE  |  DISEASES
622  |  BDH1  |  DISEASES
2571  |  GAD1  |  DISEASES
4763  |  NF1  |  DISEASES
1524  |  CX3CR1  |  DISEASES
51592  |  TRIM33  |  DISEASES
404552  |  SCGB1D4  |  DISEASES
2996  |  GYPE  |  DISEASES
112476  |  PRRT2  |  DISEASES
23271  |  CAMSAP2  |  DISEASES
57642  |  COL20A1  |  DISEASES
23644  |  EDC4  |  DISEASES
8913  |  CACNA1G  |  DISEASES
3785  |  KCNQ2  |  DISEASES
5602  |  MAPK10  |  DISEASES
617  |  BCS1L  |  DISEASES
23607  |  CD2AP  |  DISEASES
9220  |  TIAF1  |  DISEASES
9464  |  HAND2  |  DISEASES
9179  |  AP4M1  |  DISEASES
1999  |  ELF3  |  DISEASES
6539  |  SLC6A12  |  DISEASES
130535  |  KCTD18  |  DISEASES
8359  |  HIST1H4A  |  DISEASES
1201  |  CLN3  |  DISEASES
51150  |  SDF4  |  DISEASES
773  |  CACNA1A  |  DISEASES
4134  |  MAP4  |  DISEASES
23230  |  VPS13A  |  DISEASES
5599  |  MAPK8  |  DISEASES
4133  |  MAP2  |  DISEASES
222553  |  SLC35F1  |  DISEASES
8828  |  NRP2  |  DISEASES
8367  |  HIST1H4E  |  DISEASES
1565  |  CYP2D6  |  DISEASES
104  |  ADARB1  |  DISEASES
85315  |  PAQR8  |  DISEASES
140803  |  TRPM6  |  DISEASES
6533  |  SLC6A6  |  DISEASES
80331  |  DNAJC5  |  DISEASES
58484  |  NLRC4  |  DISEASES
4916  |  NTRK3  |  DISEASES
10319  |  LAMC3  |  DISEASES
54981  |  NMRK1  |  DISEASES
1745  |  DLX1  |  DISEASES
477  |  ATP1A2  |  DISEASES
22871  |  NLGN1  |  DISEASES
4519  |  MT-CYB  |  DISEASES
2475  |  MTOR  |  DISEASES
4508  |  MT-ATP6  |  DISEASES
4886  |  NPY1R  |  DISEASES
4541  |  MT-ND6  |  DISEASES
26047  |  CNTNAP2  |  DISEASES
4540  |  MT-ND5  |  DISEASES
1813  |  DRD2  |  DISEASES
4513  |  MT-CO2  |  DISEASES
2705  |  GJB1  |  DISEASES
79674  |  VEPH1  |  DISEASES
1756  |  DMD  |  DISEASES
4538  |  MT-ND4  |  DISEASES
5455  |  POU3F3  |  DISEASES
4536  |  MT-ND2  |  DISEASES
56259  |  CTNNBL1  |  DISEASES
56853  |  CELF4  |  DISEASES
116443  |  GRIN3A  |  DISEASES
9853  |  RUSC2  |  DISEASES
779  |  CACNA1S  |  DISEASES
4537  |  MT-ND3  |  DISEASES
116461  |  TSEN15  |  DISEASES
2913  |  GRM3  |  DISEASES
23038  |  WDTC1  |  DISEASES
1527  |  TEX28  |  DISEASES
7052  |  TGM2  |  DISEASES
1270  |  CNTF  |  DISEASES
25893  |  TRIM58  |  DISEASES
6262  |  RYR2  |  DISEASES
27185  |  DISC1  |  DISEASES
8443  |  GNPAT  |  DISEASES
5664  |  PSEN2  |  DISEASES
2058  |  EPRS  |  DISEASES
7779  |  SLC30A1  |  DISEASES
89796  |  NAV1  |  DISEASES
5110  |  PCMT1  |  DISEASES
5743  |  PTGS2  |  DISEASES
7957  |  EPM2A  |  DISEASES
777  |  CACNA1E  |  DISEASES
64222  |  TOR3A  |  DISEASES
9293  |  GPR52  |  DISEASES
1805  |  DPT  |  DISEASES
9287  |  TAAR2  |  DISEASES
3765  |  KCNJ9  |  DISEASES
3766  |  KCNJ10  |  DISEASES
93183  |  PIGM  |  DISEASES
10763  |  NES  |  DISEASES
632  |  BGLAP  |  DISEASES
23208  |  SYT11  |  DISEASES
57657  |  HCN3  |  DISEASES
2173  |  FABP7  |  DISEASES
10654  |  PMVK  |  DISEASES
103  |  ADAR  |  DISEASES
1141  |  CHRNB2  |  DISEASES
4014  |  LOR  |  DISEASES
79005  |  SCNM1  |  DISEASES
10500  |  SEMA6C  |  DISEASES
1520  |  CTSS  |  DISEASES
1893  |  ECM1  |  DISEASES
23632  |  CA14  |  DISEASES
9900  |  SV2A  |  DISEASES
554313  |  HIST2H4B  |  DISEASES
8370  |  HIST2H4A  |  DISEASES
2018  |  EMX2  |  DISEASES
259217  |  HSPA12A  |  DISEASES
26227  |  PHGDH  |  DISEASES
116442  |  RAB39B  |  DISEASES
1268  |  CNR1  |  DISEASES
4803  |  NGF  |  DISEASES
57038  |  RARS2  |  DISEASES
1081  |  CGA  |  DISEASES
8517  |  IKBKG  |  DISEASES
6566  |  SLC16A1  |  DISEASES
9446  |  GSTO1  |  DISEASES
3738  |  KCNA3  |  DISEASES
3749  |  KCNC4  |  DISEASES
257  |  ALX3  |  DISEASES
9118  |  INA  |  DISEASES
2316  |  FLNA  |  DISEASES
3351  |  HTR1B  |  DISEASES
3654  |  IRAK1  |  DISEASES
22854  |  NTNG1  |  DISEASES
23443  |  SLC35A3  |  DISEASES
79144  |  PPDPF  |  DISEASES
1137  |  CHRNA4  |  DISEASES
2556  |  GABRA3  |  DISEASES
115004  |  MB21D1  |  DISEASES
1244  |  ABCC2  |  DISEASES
163351  |  GBP6  |  DISEASES
2334  |  AFF2  |  DISEASES
2332  |  FMR1  |  DISEASES
2258  |  FGF13  |  DISEASES
959  |  CD40LG  |  DISEASES
10479  |  SLC9A6  |  DISEASES
653  |  BMP5  |  DISEASES
55227  |  LRRC1  |  DISEASES
5509  |  PPP1R3D  |  DISEASES
114327  |  EFHC1  |  DISEASES
29929  |  ALG6  |  DISEASES
1791  |  DNTT  |  DISEASES
3725  |  JUN  |  DISEASES
1557  |  CYP2C19  |  DISEASES
200008  |  CDCP2  |  DISEASES
9211  |  LGI1  |  DISEASES
6512  |  SLC1A7  |  DISEASES
2902  |  GRIN1  |  DISEASES
7319  |  UBE2A  |  DISEASES
3745  |  KCNB1  |  DISEASES
57582  |  KCNT1  |  DISEASES
186  |  AGTR2  |  DISEASES
10564  |  ARFGEF2  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
4318  |  MMP9  |  DISEASES
9682  |  KDM4A  |  DISEASES
7417  |  VDAC2  |  DISEASES
22845  |  DOLK  |  DISEASES
6709  |  SPTAN1  |  DISEASES
728343  |  NXF2B  |  DISEASES
1678  |  TIMM8A  |  DISEASES
310  |  ANXA7  |  DISEASES
1759  |  DNM1  |  DISEASES
27286  |  SRPX2  |  DISEASES
7105  |  TSPAN6  |  DISEASES
57526  |  PCDH19  |  DISEASES
2899  |  GRIK3  |  DISEASES
27328  |  PCDH11X  |  DISEASES
89822  |  KCNK17  |  DISEASES
254065  |  BRWD3  |  DISEASES
6812  |  STXBP1  |  DISEASES
546  |  ATRX  |  DISEASES
84253  |  GARNL3  |  DISEASES
54657  |  UGT1A4  |  DISEASES
3208  |  HPCA  |  DISEASES
3065  |  HDAC1  |  DISEASES
3061  |  HCRTR1  |  DISEASES
2170  |  FABP3  |  DISEASES
84890  |  ADO  |  DISEASES
7099  |  TLR4  |  DISEASES
6572  |  SLC18A3  |  DISEASES
2914  |  GRM4  |  DISEASES
58493  |  INIP  |  DISEASES
3710  |  ITPR3  |  DISEASES
1741  |  DLG3  |  DISEASES
7580  |  ZNF32  |  DISEASES
23732  |  FRRS1L  |  DISEASES
249  |  ALPL  |  DISEASES
8242  |  KDM5C  |  DISEASES
2159  |  F10  |  DISEASES
54455  |  FBXO42  |  DISEASES
3303  |  HSPA1A  |  DISEASES
7407  |  VARS  |  DISEASES
1282  |  COL4A1  |  DISEASES
3055  |  HCK  |  DISEASES
1460  |  CSNK2B  |  DISEASES
199  |  AIF1  |  DISEASES
2259  |  FGF14  |  DISEASES
1041  |  CDSN  |  DISEASES
57348  |  TTYH1  |  DISEASES
26090  |  ABHD12  |  DISEASES
8428  |  STK24  |  DISEASES
7091  |  TLE4  |  DISEASES
4524  |  MTHFR  |  DISEASES
3105  |  HLA-A  |  DISEASES
55071  |  C9orf40  |  DISEASES
6096  |  RORB  |  DISEASES
63908  |  NAPB  |  DISEASES
2550  |  GABBR1  |  DISEASES
23670  |  TMEM2  |  DISEASES
1325  |  CORT  |  DISEASES
81562  |  LMAN2L  |  DISEASES
51629  |  SLC25A39  |  DISEASES
256691  |  MAMDC2  |  DISEASES
1910  |  EDNRB  |  DISEASES
8869  |  ST3GAL5  |  DISEASES
5293  |  PIK3CD  |  DISEASES
8366  |  HIST1H4B  |  DISEASES
765  |  CA6  |  DISEASES
1203  |  CLN5  |  DISEASES
8241  |  RBM10  |  DISEASES
8361  |  HIST1H4F  |  DISEASES
1804  |  DPP6  |  DISEASES
8364  |  HIST1H4C  |  DISEASES
387509  |  GPR153  |  DISEASES
27253  |  PCDH17  |  DISEASES
5100  |  PCDH8  |  DISEASES
4129  |  MAOB  |  DISEASES
8514  |  KCNAB2  |  DISEASES
388585  |  HES5  |  DISEASES
3980  |  LIG3  |  DISEASES
2563  |  GABRD  |  DISEASES
8803  |  SUCLA2  |  DISEASES
3356  |  HTR2A  |  DISEASES
1114  |  CHGB  |  DISEASES
170302  |  ARX  |  DISEASES
5080  |  PAX6  |  DISEASES
6339  |  SCNN1D  |  DISEASES
5251  |  PHEX  |  DISEASES
1906  |  EDN1  |  DISEASES
5621  |  PRNP  |  DISEASES
613212  |  CTXN3  |  DISEASES
22866  |  CNKSR2  |  DISEASES
7222  |  TRPC3  |  DISEASES
7223  |  TRPC4  |  DISEASES
5160  |  PDHA1  |  DISEASES
22836  |  RHOBTB3  |  DISEASES
6792  |  CDKL5  |  DISEASES
139105  |  BEND2  |  DISEASES
4810  |  NHS  |  DISEASES
317762  |  CCDC85C  |  DISEASES
551  |  AVP  |  DISEASES
64949  |  MRPS26  |  DISEASES
7280  |  TUBB2A  |  DISEASES
670  |  BPHL  |  DISEASES
6194  |  RPS6  |  DISEASES
6462  |  SHBG  |  DISEASES
10670  |  RRAGA  |  DISEASES
3030  |  HADHA  |  DISEASES
1183  |  CLCN4  |  DISEASES
1645  |  AKR1C1  |  DISEASES
83605  |  CCM2  |  DISEASES
415  |  ARSE  |  DISEASES
7054  |  TH  |  DISEASES
9189  |  ZBED1  |  DISEASES
6547  |  SLC8A3  |  DISEASES
105  |  ADARB2  |  DISEASES
6453  |  ITSN1  |  DISEASES
2731  |  GLDC  |  DISEASES
51109  |  RDH11  |  DISEASES
427  |  ASAH1  |  DISEASES
169522  |  KCNV2  |  DISEASES
7436  |  VLDLR  |  DISEASES
9681  |  DEPDC5  |  DISEASES
55203  |  LGI2  |  DISEASES
26278  |  SACS  |  DISEASES
116448  |  OLIG1  |  DISEASES
3736  |  KCNA1  |  DISEASES
4155  |  MBP  |  DISEASES
361  |  AQP4  |  DISEASES
9901  |  SRGAP3  |  DISEASES
3786  |  KCNQ3  |  DISEASES
22908  |  SACM1L  |  DISEASES
2617  |  GARS  |  DISEASES
10716  |  TBR1  |  DISEASES
152992  |  TRMT44  |  DISEASES
6833  |  ABCC8  |  DISEASES
130074  |  FAM168B  |  DISEASES
250  |  ALPP  |  DISEASES
9290  |  GPR55  |  DISEASES
51347  |  TAOK3  |  DISEASES
11235  |  PDCD10  |  DISEASES
1621  |  DBH  |  DISEASES
57628  |  DPP10  |  DISEASES
84628  |  NTNG2  |  DISEASES
5803  |  PTPRZ1  |  DISEASES
2596  |  GAP43  |  DISEASES
92181  |  UBTD2  |  DISEASES
5091  |  PC  |  DISEASES
1106  |  CHD2  |  DISEASES
60592  |  SCOC  |  DISEASES
5627  |  PROS1  |  DISEASES
26468  |  LHX6  |  DISEASES
89970  |  RSPRY1  |  DISEASES
50801  |  KCNK4  |  DISEASES
79868  |  ALG13  |  DISEASES
2912  |  GRM2  |  DISEASES
56000  |  NXF3  |  DISEASES
83698  |  CALN1  |  DISEASES
6046  |  BRD2  |  DISEASES
9829  |  DNAJC6  |  DISEASES
23475  |  QPRT  |  DISEASES
9315  |  NREP  |  DISEASES
56666  |  PANX2  |  DISEASES
2737  |  GLI3  |  DISEASES
23096  |  IQSEC2  |  DISEASES
2628  |  GATM  |  DISEASES
4338  |  MOCS2  |  DISEASES
3269  |  HRH1  |  DISEASES
64223  |  MLST8  |  DISEASES
23259  |  DDHD2  |  DISEASES
5048  |  PAFAH1B1  |  DISEASES
57471  |  ERMN  |  DISEASES
9425  |  CDYL  |  DISEASES
10195  |  ALG3  |  DISEASES
4308  |  TRPM1  |  DISEASES
7337  |  UBE3A  |  DISEASES
594857  |  NPS  |  DISEASES
144577  |  C12orf66  |  DISEASES
4905  |  NSF  |  DISEASES
815  |  CAMK2A  |  DISEASES
4356  |  MPP3  |  DISEASES
1859  |  DYRK1A  |  DISEASES
4363  |  ABCC1  |  DISEASES
7442  |  TRPV1  |  DISEASES
81929  |  SEH1L  |  DISEASES
2897  |  GRIK1  |  DISEASES
8131  |  NPRL3  |  DISEASES
23327  |  NEDD4L  |  DISEASES
25974  |  MMACHC  |  DISEASES
284403  |  WDR62  |  DISEASES
8911  |  CACNA1I  |  DISEASES
1135  |  CHRNA2  |  DISEASES
9378  |  NRXN1  |  DISEASES
83873  |  GPR61  |  DISEASES
3033  |  HADH  |  DISEASES
3778  |  KCNMA1  |  DISEASES
7018  |  TF  |  DISEASES
55041  |  PLEKHB2  |  DISEASES
2570  |  GABRR2  |  DISEASES
55777  |  MBD5  |  DISEASES
93986  |  FOXP2  |  DISEASES
6335  |  SCN9A  |  DISEASES
29072  |  SETD2  |  DISEASES
6332  |  SCN7A  |  DISEASES
57703  |  CWC22  |  DISEASES
501  |  ALDH7A1  |  DISEASES
27247  |  NFU1  |  DISEASES
151  |  ADRA2B  |  DISEASES
3267  |  AGFG1  |  DISEASES
57468  |  SLC12A5  |  DISEASES
1385  |  CREB1  |  DISEASES
8604  |  SLC25A12  |  DISEASES
57571  |  CARNS1  |  DISEASES
132158  |  GLYCTK  |  DISEASES
404281  |  YY2  |  DISEASES
352954  |  GATS  |  DISEASES
285346  |  ZNF852  |  DISEASES
6336  |  SCN10A  |  DISEASES
285175  |  UNC80  |  DISEASES
10903  |  MTMR11  |  DISEASES
5649  |  RELN  |  DISEASES
653269  |  POTEI  |  DISEASES
89839  |  ARHGAP11B  |  DISEASES
57282  |  SLC4A10  |  DISEASES
146713  |  RBFOX3  |  DISEASES
3800  |  KIF5C  |  DISEASES
197  |  AHSG  |  DISEASES
3776  |  KCNK2  |  DISEASES
4988  |  OPRM1  |  DISEASES
5538  |  PPT1  |  DISEASES
30820  |  KCNIP1  |  DISEASES
4204  |  MECP2  |  DISEASES
6560  |  SLC12A4  |  DISEASES
6329  |  SCN4A  |  DISEASES
6324  |  SCN1B  |  DISEASES
2898  |  GRIK2  |  DISEASES
5999  |  RGS4  |  DISEASES
4908  |  NTF3  |  DISEASES
83876  |  MRO  |  DISEASES
154881  |  KCTD7  |  DISEASES
7124  |  TNF  |  DISEASES
6474  |  SHOX2  |  DISEASES
8910  |  SGCE  |  DISEASES
387  |  RHOA  |  DISEASES
9228  |  DLGAP2  |  DISEASES
3908  |  LAMA2  |  DISEASES
6635  |  SNRPE  |  DISEASES
55275  |  VPS53  |  DISEASES
54893  |  MTMR10  |  DISEASES
10715  |  CERS1  |  DISEASES
2593  |  GAMT  |  DISEASES
8831  |  SYNGAP1  |  DISEASES
2900  |  GRIK4  |  DISEASES
9465  |  AKAP7  |  DISEASES
79718  |  TBL1XR1  |  DISEASES
9852  |  EPM2AIP1  |  DISEASES
5424  |  POLD1  |  DISEASES
91833  |  WDR20  |  DISEASES
399697  |  CTXN2  |  DISEASES
151295  |  SLC23A3  |  DISEASES
1139  |  CHRNA7  |  DISEASES
284252  |  KCTD1  |  DISEASES
3798  |  KIF5A  |  DISEASES
2668  |  GDNF  |  DISEASES
8867  |  SYNJ1  |  DISEASES
834  |  CASP1  |  DISEASES
2566  |  GABRG2  |  DISEASES
23658  |  LSM5  |  DISEASES
2632  |  GBE1  |  DISEASES
10900  |  RUNDC3A  |  DISEASES
23270  |  TSPYL4  |  DISEASES
389549  |  FEZF1  |  DISEASES
2741  |  GLRA1  |  DISEASES
116  |  ADCYAP1  |  DISEASES
3586  |  IL10  |  DISEASES
6628  |  SNRPB  |  DISEASES
2257  |  FGF12  |  DISEASES
627  |  BDNF  |  DISEASES
2859  |  GPR35  |  DISEASES
57670  |  KIAA1549  |  DISEASES
1967  |  EIF2B1  |  DISEASES
6513  |  SLC2A1  |  DISEASES
10243  |  GPHN  |  DISEASES
5528  |  PPP2R5D  |  DISEASES
79813  |  EHMT1  |  DISEASES
9254  |  CACNA2D2  |  DISEASES
132204  |  SYNPR  |  DISEASES
266553  |  OFCC1  |  DISEASES
1020  |  CDK5  |  DISEASES
7881  |  KCNAB1  |  DISEASES
51555  |  PEX5L  |  DISEASES
5542  |  PRB1  |  DISEASES
6949  |  TCOF1  |  DISEASES
79894  |  ZNF672  |  DISEASES
51428  |  DDX41  |  DISEASES
22987  |  SV2C  |  DISEASES
100506742  |  CASP12  |  DISEASES
346007  |  EYS  |  DISEASES
10687  |  PNMA2  |  DISEASES
23025  |  UNC13A  |  DISEASES
4603  |  MYBL1  |  DISEASES
6586  |  SLIT3  |  DISEASES
3066  |  HDAC2  |  DISEASES
4914  |  NTRK1  |  DISEASES
7178  |  TPT1  |  DISEASES
3748  |  KCNC3  |  DISEASES
9152  |  SLC6A5  |  DISEASES
56140  |  PCDHA8  |  DISEASES
6230  |  RPS25  |  DISEASES
55862  |  ECHDC1  |  DISEASES
785  |  CACNB4  |  DISEASES
488  |  ATP2A2  |  DISEASES
57176  |  VARS2  |  DISEASES
64478  |  CSMD1  |  DISEASES
5099  |  PCDH7  |  DISEASES
5027  |  P2RX7  |  DISEASES
85358  |  SHANK3  |  DISEASES
375612  |  LHFPL3  |  DISEASES
8972  |  MGAM  |  DISEASES
1649  |  DDIT3  |  DISEASES
10059  |  DNM1L  |  DISEASES
53349  |  ZFYVE1  |  DISEASES
10381  |  TUBB3  |  DISEASES
161436  |  EML5  |  DISEASES
56963  |  RGMA  |  DISEASES
9990  |  SLC12A6  |  DISEASES
283953  |  TMEM114  |  DISEASES
91056  |  AP5B1  |  DISEASES
81831  |  NETO2  |  DISEASES
392617  |  ELFN1  |  DISEASES
23334  |  SZT2  |  DISEASES
51741  |  WWOX  |  DISEASES
3316  |  HSPB2  |  DISEASES
820  |  CAMP  |  DISEASES
22861  |  NLRP1  |  DISEASES
54938  |  SARS2  |  DISEASES
352990  |  HCP5B  |  DISEASES
102723508  |  KANTR  |  DISEASES
100874251  |  KIRREL3-AS2  |  DISEASES
338799  |  LINC01089  |  DISEASES
378938  |  MALAT1  |  DISEASES
100128977  |  MAPT-AS1  |  DISEASES
100130148  |  MAPT-IT1  |  DISEASES
114614  |  MIR155HG  |  DISEASES
4566  |  MT-TK  |  DISEASES
4567  |  MT-TL1  |  DISEASES
4570  |  MT-TN  |  DISEASES
4574  |  MT-TS1  |  DISEASES
4575  |  MT-TS2  |  DISEASES
7955  |  RNF217-AS1  |  DISEASES
Locus(Waiting for update.)
Disease ID 532
Disease epilepsy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:259)
HP:0001250  |  Seizures  |  495
HP:0002373  |  Febrile convulsions  |  95
HP:0000716  |  Depression  |  65
HP:0001249  |  Mental retardation  |  58
HP:0002539  |  Cortical dysplasia  |  39
HP:0000708  |  Behavioral problems  |  37
HP:0000739  |  Anxiety  |  36
HP:0000717  |  Autism  |  35
HP:0100543  |  Cognitive deficits  |  34
HP:0007359  |  Partial seizures  |  33
HP:0002133  |  Status epilepticus  |  27
HP:0001631  |  Atria septal defect  |  27
HP:0003200  |  Ragged-red fibers  |  25
HP:0002069  |  Generalized tonic clonic seizures  |  21
HP:0000709  |  Psychosis  |  21
HP:0001263  |  Developmental retardation  |  20
HP:0030692  |  Brain tumor  |  19
HP:0001297  |  Cerebral vascular events  |  16
HP:0002664  |  Neoplasia  |  15
HP:0001298  |  Encephalopathy  |  14
HP:0002315  |  Headaches  |  14
HP:0002076  |  Migraine headaches  |  13
HP:0001251  |  Ataxia  |  12
HP:0010819  |  drop attacks  |  12
HP:0002383  |  Encephalitis  |  12
HP:0002444  |  Hypothalamic hamartoma  |  12
HP:0001268  |  Mental deterioration  |  11
HP:0002197  |  Generalized seizures  |  11
HP:0002121  |  Petit mal seizures  |  11
HP:0009733  |  Glioma  |  11
HP:0007185  |  Loss of consciousness  |  10
HP:0100021  |  Cerebral palsy  |  10
HP:0002360  |  Sleep disturbance  |  9
HP:0000718  |  Aggressive behaviour  |  9
HP:0001337  |  Tremor  |  9
HP:0001336  |  Myoclonic jerks  |  8
HP:0100033  |  Tic disorder  |  8
HP:0000726  |  Dementia  |  8
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  7
HP:0011150  |  Myoclonic absences  |  7
HP:0007269  |  Spinal muscle wasting  |  7
HP:0000078  |  Genital abnormalities  |  6
HP:0002282  |  Heterotopias  |  6
HP:0002529  |  Neuronal loss in central nervous system  |  6
HP:0007302  |  Bipolar disorder  |  6
HP:0000252  |  Small head circumference  |  5
HP:0011157  |  Auras  |  5
HP:0002725  |  Systemic lupus erythematosus  |  5
HP:0012005  |  Deja vu  |  5
HP:0000738  |  Sensory hallucination  |  5
HP:0200134  |  Epileptic encephalopathy  |  5
HP:0002353  |  Abnormal EEG  |  5
HP:0001279  |  Syncope  |  5
HP:0002500  |  Leukoaraiosis  |  5
HP:0002384  |  Dyscognitive seizures  |  5
HP:0011097  |  Salaam convulsions  |  5
HP:0100785  |  Insomnia  |  4
HP:0000238  |  Nonsyndromal hydrocephalus  |  4
HP:0002367  |  Visual hallucinations  |  4
HP:0002354  |  Memory loss  |  4
HP:0000992  |  Skin photosensitivity  |  4
HP:0012531  |  Pain  |  4
HP:0002104  |  Absence of spontaneous respiration  |  4
HP:0001048  |  Cavernous angioma  |  4
HP:0001332  |  Dystonia  |  4
HP:0010566  |  Hamartoma  |  4
HP:0000752  |  Hyperactive behavior  |  4
HP:0100753  |  Schizophrenia  |  4
HP:0002608  |  Celiac disease  |  4
HP:0012469  |  Infantile spasms  |  4
HP:0000729  |  Pervasive developmental disorder  |  3
HP:0002459  |  Dysautonomia  |  3
HP:0010636  |  Schizencephaly  |  3
HP:0000979  |  Purpura  |  3
HP:0002167  |  Speech disorder  |  3
HP:0002027  |  Abdominal pain  |  3
HP:0002376  |  Loss of developmental milestones  |  3
HP:0007018  |  Attention deficits  |  3
HP:0010535  |  Sleep apnea  |  3
HP:0011172  |  Complex febrile seizures  |  3
HP:0002960  |  Autoimmune condition  |  3
HP:0000805  |  Enuresis  |  3
HP:0002621  |  Atherosclerosis  |  2
HP:0002140  |  Ischemic stroke  |  2
HP:0010864  |  Early and severe mental retardation  |  2
HP:0001270  |  Motor retardation  |  2
HP:0000083  |  Renal insufficiency  |  2
HP:0001513  |  Obesity  |  2
HP:0009717  |  Cortical tubers  |  2
HP:0100318  |  Lafora bodies  |  2
HP:0002171  |  Cerebral gliosis  |  2
HP:0012032  |  Lipoma  |  2
HP:0012444  |  Brain wasting  |  2
HP:0100843  |  Glioblastoma  |  2
HP:0000821  |  Underactive thyroid  |  2
HP:0001262  |  Somnolence  |  2
HP:0002018  |  Nausea  |  2
HP:0002269  |  Neuronal migration disorder  |  2
HP:0009592  |  Astrocytoma  |  2
HP:0003470  |  Inability to move  |  2
HP:0100512  |  Vitamin D deficiency  |  2
HP:0002077  |  Migraine with aura  |  2
HP:0002126  |  Polymicrogyria  |  2
HP:0011170  |  Myoclonic atonic seizures  |  2
HP:0002180  |  Neurodegeneration  |  2
HP:0002013  |  Emesis  |  2
HP:0002870  |  Obstructive sleep apnea  |  2
HP:0002521  |  Hypsarrhythmia by EEG  |  2
HP:0008760  |  Violent behavior  |  2
HP:0002084  |  Bifid skull  |  2
HP:0001945  |  Fever  |  2
HP:0001695  |  Cardiac arrest  |  2
HP:0000256  |  Macrocrania  |  2
HP:0001067  |  Neurofibromas  |  2
HP:0002650  |  Scoliosis  |  2
HP:0000939  |  Osteoporosis  |  2
HP:0002901  |  Hypocalcemia  |  2
HP:0011153  |  Focal motor seizures  |  2
HP:0006970  |  Periventricular leukomalacia  |  2
HP:0001269  |  Hemiparesis  |  2
HP:0100660  |  Dyskinesis  |  2
HP:0011665  |  Takotsubo cardiomyopathy  |  2
HP:0003287  |  Abnormality of mitochondrial metabolism  |  2
HP:0000394  |  Lop ear  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0002511  |  Late-onset form of familial Alzheimer disease  |  1
HP:0002189  |  Excessive daytime sleepiness  |  1
HP:0001256  |  Mild mental retardation  |  1
HP:0002156  |  High urine homocystine levels  |  1
HP:0003768  |  Periodic paralysis  |  1
HP:0001319  |  Hypotonia, in neonatal onset  |  1
HP:0011158  |  Auditory auras  |  1
HP:0100702  |  Arachnoid cyst  |  1
HP:0012418  |  Low blood oxygen level  |  1
HP:0004305  |  Involuntary muscle contractions  |  1
HP:0001548  |  Overgrowth  |  1
HP:0001266  |  Choreoathetosis  |  1
HP:0001272  |  Cerebellar atrophy  |  1
HP:0002415  |  Degeneration of white matter of brain  |  1
HP:0000141  |  Abnormal absence of menstruation  |  1
HP:0002321  |  Vertigo  |  1
HP:0012817  |  Noncompaction of the ventricular myocardium  |  1
HP:0002758  |  Osteoarthritis  |  1
HP:0007366  |  Brainstem atrophy  |  1
HP:0001649  |  Tachycardia  |  1
HP:0001061  |  Acne  |  1
HP:0000802  |  Erectile dysfunction  |  1
HP:0001335  |  Bimanual synkinesia  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0001259  |  Coma  |  1
HP:0007166  |  Paroxysmal dyskinesia  |  1
HP:0012378  |  Fatigue  |  1
HP:0002090  |  Pneumonia  |  1
HP:0002059  |  Degeneration of cerebrum  |  1
HP:0001987  |  Hyperammonemia  |  1
HP:0011162  |  Psychic auras  |  1
HP:0011165  |  Visual auras  |  1
HP:0012075  |  Personality disorder  |  1
HP:0003077  |  Hyperlipidemia  |  1
HP:0000815  |  Primary hypogonadism  |  1
HP:0002099  |  Asthma  |  1
HP:0005086  |  Knee osteoarthritis  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0002381  |  Aphasia  |  1
HP:0012847  |  Epilepsia partialis continua  |  1
HP:0012120  |  Methymalonicaciduria  |  1
HP:0000360  |  Ringing in the ears  |  1
HP:0000819  |  Diabetes mellitus  |  1
HP:0006789  |  Mitochondrial encephalopathy  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0002072  |  Chorea  |  1
HP:0006879  |  Pontocerebellar atrophy  |  1
HP:0001733  |  Pancreatic inflammation  |  1
HP:0030214  |  Sex addiction  |  1
HP:0000618  |  Blindness  |  1
HP:0007206  |  Hemimegalencephaly  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0002652  |  Skeletal dysplasia  |  1
HP:0004395  |  Malnutrition  |  1
HP:0001508  |  Weight faltering  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0001644  |  Congestive cardiomyopathy  |  1
HP:0012668  |  Situational syncope  |  1
HP:0004373  |  Focal dystonia  |  1
HP:0000991  |  Xanthomata  |  1
HP:0002448  |  Progressive encephalopathy  |  1
HP:0002123  |  Myoclonus seizures  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0001339  |  Lissencephaly  |  1
HP:0012481  |  Developmental Venous Anomaly  |  1
HP:0002154  |  Hyperglycinaemia  |  1
HP:0002912  |  Methylmalonic acidemia  |  1
HP:0003219  |  Ethylmalonic aciduria  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0001252  |  Hypotonia  |  1
HP:0000135  |  Hypogonadism  |  1
HP:0001399  |  Liver failure  |  1
HP:0003418  |  Back pain  |  1
HP:0002858  |  Mengiomia  |  1
HP:0001518  |  Small for gestational age  |  1
HP:0100022  |  Movement disorder  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0012721  |  Venous malformations  |  1
HP:0004308  |  Ventricular arrhythmia  |  1
HP:0001397  |  Hepatic steatosis  |  1
HP:0012758  |  Neurodevelopmental delay  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0012174  |  Glioblastoma multiforme  |  1
HP:0011182  |  Epileptiform EEG discharges  |  1
HP:0000670  |  Dental caries  |  1
HP:0001155  |  Hand anomalies  |  1
HP:0002580  |  Volvulus  |  1
HP:0001892  |  Bleeding diathesis  |  1
HP:0000648  |  Optic-nerve degeneration  |  1
HP:0005484  |  Acquired microcephaly  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0009879  |  Simplified gyral pattern  |  1
HP:0010532  |  Paroxysmal vertigo  |  1
HP:0010526  |  Dysgraphia  |  1
HP:0100026  |  Arteriovenous malformation  |  1
HP:0002748  |  Rickets  |  1
HP:0008765  |  Auditory hallucinations  |  1
HP:0002527  |  Falls  |  1
HP:0001627  |  Congenital heart defects  |  1
HP:0012072  |  Aciduria  |  1
HP:0000725  |  Psychotic episodes  |  1
HP:0002446  |  Astrocytosis  |  1
HP:0001943  |  Hypoglycemia  |  1
HP:0002020  |  Heartburn  |  1
HP:0000028  |  Cryptorchidism  |  1
HP:0000112  |  Nephropathy  |  1
HP:0001321  |  Small cerebellum  |  1
HP:0007373  |  Motor neuron atrophy  |  1
HP:0007105  |  Infantile encephalopathy  |  1
HP:0002411  |  Myokymia  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0003510  |  Proportionate dwarfism  |  1
HP:0000969  |  Dropsy  |  1
HP:0000096  |  Glomerulosclerosis  |  1
HP:0001941  |  acidemia  |  1
HP:0011450  |  CNS infection  |  1
HP:0011147  |  Typical absence seizures  |  1
HP:0002883  |  Rapid breathing  |  1
HP:0100651  |  Type I diabetes mellitus  |  1
HP:0011972  |  Decreased CSF glucose  |  1
HP:0008358  |  Prolinemia  |  1
HP:0040148  |  Cortical myoclonus  |  1
HP:0008288  |  Nonketotic hyperglycinemia  |  1
HP:0100601  |  Eclampsia  |  1
HP:0000271  |  Abnormal face  |  1
HP:0012229  |  Cerebrospinal fluid pleocytosis  |  1
HP:0010523  |  Alexia  |  1
HP:0001903  |  Anemia  |  1
HP:0012532  |  Chronic pain  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0005268  |  Spontaneous abortion  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
Disease ID 532
Disease epilepsy
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:114)
C0036572  |  seizures  |  334
C0036572  |  seizure  |  157
C1504404  |  hippocampal sclerosis  |  147
C0011570  |  depression  |  65
C0003467  |  anxiety  |  36
C0431380  |  cortical dysplasia  |  36
C0025362  |  mental retardation  |  34
C0277787  |  stigma  |  34
C0033975  |  psychosis  |  20
C0014544  |  epileptic seizures  |  18
C0038454  |  stroke  |  16
C0149931  |  migraine  |  13
C0751495  |  partial seizures  |  13
C0086132  |  depressive symptoms  |  13
C0235169  |  excitability  |  13
C0014038  |  encephalitis  |  11
C0004134  |  ataxia  |  11
C0748607  |  recurrent seizures  |  11
C0796095  |  c syndrome  |  10
C0342418  |  hypothalamic hamartoma  |  9
C0270846  |  atonic seizures  |  9
C0679466  |  cognitive deficits  |  9
C0040822  |  tremor  |  9
C0018681  |  headache  |  8
C0497327  |  dementia  |  7
C0027066  |  myoclonus  |  7
C0522224  |  palsy  |  7
C0003469  |  anxiety disorders  |  6
C0037317  |  sleep disturbance  |  6
C0004936  |  mental disorders  |  5
C0234428  |  impaired consciousness  |  5
C0018524  |  hallucinations  |  5
C0262405  |  brain dysfunction  |  5
C0149958  |  complex partial seizures  |  5
C0206715  |  neuroepithelial tumor  |  4
C0231303  |  distress  |  4
C0009241  |  cognitive disorders  |  4
C0040188  |  tic disorders  |  4
C0871189  |  psychotic symptoms  |  4
C0007570  |  celiac disease  |  4
C0005586  |  bipolar disorder  |  4
C0007222  |  cardiovascular disease  |  4
C0010678  |  cysticercosis  |  4
C0036341  |  schizophrenia  |  4
C0013421  |  dystonia  |  4
C0342418  |  hypothalamic hamartomas  |  3
C0037317  |  sleep disturbances  |  3
C0431380  |  cortical dysplasias  |  3
C2676454  |  h syndrome  |  3
C0020255  |  hydrocephalus  |  3
C0001726  |  affective symptoms  |  3
C1263846  |  attention deficit hyperactivity disorder  |  3
C0233401  |  psychiatric symptom  |  3
C0851578  |  sleep disorders  |  3
C0751494  |  convulsive seizures  |  3
C0037315  |  sleep apnea  |  3
C0221505  |  brain lesions  |  3
C0027765  |  neurological disorder  |  3
C0851578  |  sleep disorder  |  2
C0036857  |  severe mental retardation  |  2
C0547030  |  visual disturbances  |  2
C0033953  |  sexual disorder  |  2
C0152128  |  drug withdrawal  |  2
C0033975  |  psychotic disorders  |  2
C0041696  |  major depression  |  2
C0520679  |  obstructive sleep apnea  |  2
C0002622  |  amnesia  |  2
C0004153  |  atherosclerosis  |  2
C0422943  |  visual symptoms  |  2
C1739395  |  takotsubo cardiomyopathy  |  2
C0233401  |  psychiatric symptoms  |  2
C0042870  |  vitamin d deficiency  |  2
C0033953  |  sexual dysfunction  |  2
C0017638  |  gliomas  |  2
C1837249  |  neuronal migration disorder  |  2
C0033975  |  psychoses  |  2
C0393734  |  complex partial status epilepticus  |  2
C0235946  |  brain atrophy  |  2
C0024530  |  malaria  |  2
C1720983  |  channelopathy  |  1
C0740279  |  cerebellar atrophy  |  1
C0270862  |  hemiplegic migraine  |  1
C0751265  |  learning disabilities  |  1
C0018916  |  angiomas  |  1
C0549117  |  frontal lobe syndrome  |  1
C0235946  |  cerebral atrophy  |  1
C0042963  |  vomiting  |  1
C0026650  |  movement disorders  |  1
C0038454  |  strokes  |  1
C0262405  |  cerebral dysfunction  |  1
C0238421  |  selenium deficiency  |  1
C0025517  |  metabolic disorder  |  1
C0009951  |  convulsions  |  1
C0003537  |  aphasia  |  1
C0021051  |  immunodeficiency  |  1
C0022116  |  ischemia  |  1
C0042961  |  volvulus  |  1
C0078981  |  arachnoid cyst  |  1
C0029166  |  oral manifestations  |  1
C0221163  |  motor disorders  |  1
C0694563  |  excessive daytime sleepiness  |  1
C0743039  |  progressive dementia  |  1
C0233895  |  hyposexuality  |  1
C0013363  |  dysautonomia  |  1
C0442874  |  neuropathy  |  1
C0221503  |  insanity  |  1
C0233762  |  auditory hallucinations  |  1
C1848213  |  bilateral periventricular nodular heterotopia  |  1
C0005940  |  osteopathy  |  1
C0032460  |  polycystic ovary syndrome  |  1
C0009951  |  convulsion  |  1
C0020625  |  hyponatremia  |  1
C0041107  |  trisomy  |  1
C0031212  |  personality disorders  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:144)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1044352250870785099PCDH7umls:C0014544GWASCATMeta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy.0.1202714422014PCDH7431146252GA,C,T
rs1045642239843791577CYP3A5umls:C0014544BeFreeThe study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy.0.0029099162013ABCB1787509329AT,G
rs1045642242138305243ABCB1umls:C0014544BeFreeThe drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children.0.1943389872013ABCB1787509329AT,G
rs1045642245537805243ABCB1umls:C0014544BeFreeAll the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified.0.1943389872014ABCB1787509329AT,G
rs1045642252234755243ABCB1umls:C0014544BeFreeThe aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy.0.1943389872015ABCB1787509329AT,G
rs1045642206054815243ABCB1umls:C0014544BeFreeABCB1 C3435T polymorphism and the risk of resistance to antiepileptic drugs in epilepsy: a systematic review and meta-analysis.0.1943389872010ABCB1787509329AT,G
rs1045642258466905243ABCB1umls:C0014544BeFreeAssociation of ABCB1 C3435T polymorphism with phenobarbital resistance in Thai patients with epilepsy.0.1943389872015ABCB1787509329AT,G
rs1045642191785615243ABCB1umls:C0014544BeFreeWe included all published studies until September 2007, in which patients with responsive and unresponsive seizure disorders underwent genotyping for ABCB1 C3435T.0.1943389872009ABCB1787509329AT,G
rs1045642158574285243ABCB1umls:C0014544BeFreeThis study failed to corroborate a previously reported association between the C3435T polymorphism in the human MDR1 gene and pharmacoresistant epilepsy.0.1943389872005ABCB1787509329AT,G
rs1045642243000295243ABCB1umls:C0014544BeFreeSignificance of MDR1 gene polymorphism C3435T in predicting drug response in epilepsy.0.1943389872013ABCB1787509329AT,G
rs1045642222392875243ABCB1umls:C0014544BeFreeRole of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.0.1943389872012ABCB1787509329AT,G
rs1045642179174615243ABCB1umls:C0014544BeFreeAssociation of MDR1 (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey.0.1943389872008ABCB1787509329AT,G
rs1045642165428585243ABCB1umls:C0014544BeFreeLack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy.0.1943389872006ABCB1787509329AT,G
rs1045642239843795243ABCB1umls:C0014544BeFreeThe study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy.0.1943389872013ABCB1787509329AT,G
rs1045642234655865243ABCB1umls:C0014544BeFreeMultidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy.0.1943389872013ABCB1787509329AT,G
rs1045642247948275243ABCB1umls:C0014544BeFreePrevious studies have attempted to confirm the association between the ABCB1-C3435T polymorphism and drug-resistant epilepsy and produced discordant findings.0.1943389872014ABCB1787509329AT,G
rs1045642222392872566GABRG2umls:C0014544BeFreeTo assess the role of MDR1 and gamma-aminobutyric acid receptor-gamma 2 sub unit (GABRG2) gene polymorphism in seizure susceptibility in generalized seizure (GS) and febrile seizure (FS) patients and to evaluate MDR1 C3435T gene polymorphism's role in absorption of the anti-epileptic drug, phenytoin (PHT) in a cohort of patients.0.0178068812012ABCB1787509329AT,G
rs1045642257993715243ABCB1umls:C0014544BeFreeABCB1 gene C3435T polymorphism and drug resistance in epilepsy: evidence based on 8,604 subjects.0.1943389872015ABCB1787509329AT,G
rs1045642191671935243ABCB1umls:C0014544BeFreeStudies on epilepsy have focused on the C3435T polymorphism of the ABCB1 gene, but other ABC transporters are also thought to be involved in the transport of antiepileptic drugs.0.1943389872009ABCB1787509329AT,G
rs1045642175219635243ABCB1umls:C0014544BeFreeAssociation between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese.0.1943389872007ABCB1787509329AT,G
rs1045642249532255243ABCB1umls:C0014544BeFreeThe relationship established in a subset of the Chinese population between the MDR1 C3435T polymorphism and refractory epilepsy will guide epilepsy treatment and development of new AEDs.0.1943389872014ABCB1787509329AT,G
rs104894718219943746324SCN1Bumls:C0014544BeFreeIn contrast, two other SCN1B mutations associated with epilepsy, p.C121W and p.R85H, are expressed at the cell surface.0.014821022011SCN1B1935033654CG,T
rs1128503210796595243ABCB1umls:C0014544BeFreeAssociation between ABCB1-T1236C polymorphism and drug-resistant epilepsy in Iranian female patients.0.1943389872010ABCB1787550285AG
rs1130183239650303766KCNJ10umls:C0014544BeFreeIt was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy.0.0056243342013KCNJ101160041722GA
rs113994049180050528893EIF2B5umls:C0014544BeFreePregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His).0.0002714422008EIF2B53184137637GA
rs113994060180050528893EIF2B5umls:C0014544BeFreePregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His).0.0002714422008EIF2B53184140470GA
rs113994095215150895428POLGumls:C0014544BeFreeTreatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers.0.1229858612011POLG;MIR67661589327201CT
rs113994097215150895428POLGumls:C0014544BeFreeTreatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers.0.1229858612011POLG1589323426CG
rs115716690200228853767KCNJ11umls:C0014544BeFreeWe report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy.0.0103445862010KCNJ111117387902CA
rs118192207182467393785KCNQ2umls:C0014544BeFreeThe absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family.0.1400306172007KCNQ22063442449TC
rs118192249184256183786KCNQ3umls:C0014544BeFreeAltered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.0.0089675132008KCNQ38132175461AG
rs11890028229495136323SCN1Aumls:C0014544BeFreeSuggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, P(meta) = 4.0 × 10(-6)) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations.0.3234669842012SCN1A;LOC1019296802166086767TG
rs119488099215044299211LGI1umls:C0014544BeFreeWe found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated.0.0156875472011LGI1;LOC1053784371093777592CT
rs12059546229495131131CHRM3umls:C0014544GWASCATGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.0.1202714422012CHRM31239806797AG
rs121434610185506996611SMSumls:C0014544BeFreeThis missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment.0.0002714422008SMSX21967312GA
rs121909674260058492566GABRG2umls:C0014544BeFreeThe human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.0.0178068812015GABRG25162153132CT
rs121918622211562076334SCN8Aumls:C0014544BeFreeOur results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy.0.1240716282011SCN1A;LOC1027240582165992332CT,A
rs121918622211562073785KCNQ2umls:C0014544BeFreeOur results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy.0.1400306172011SCN1A;LOC1027240582165992332CT,A
rs121918622253781556323SCN1Aumls:C0014544BeFreeHere, we present a multisystem analysis of an SCN1A mouse model carrying the NaV1.1-R1648H mutation, which causes febrile seizures and epilepsy in humans.0.3234669842015SCN1A;LOC1027240582165992332CT,A
rs121918622211562076323SCN1Aumls:C0014544BeFreeOur results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy.0.3234669842011SCN1A;LOC1027240582165992332CT,A
rs121918628160549366323SCN1Aumls:C0014544BeFreeSequencing of candidate genes in this region revealed a heterozygous missense mutation (Gln1489Lys) in the neuronal voltage-gated sodium channel gene SCN1A, mutations of which have been associated with epilepsy.0.3234669842005SCN1A;LOC1027240582165998049GT
rs121918799233986116323SCN1Aumls:C0014544BeFreeTo report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism.0.3234669842013SCN1A;LOC1027240582166015636GC
rs122460159179935796792CDKL5umls:C0014544BeFreeWe screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).0.020050482008CDKL5X18564496CT
rs12912233256685176323SCN1Aumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.3234669842015RORA1560974897CT
rs12912233256685176095RORAumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.0002714422015RORA1560974897CT
rs12987787250870786323SCN1Aumls:C0014544GWASCATMeta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy.0.3234669842014SCN1A;LOC1027240582166001881TC
rs1298778725087078102724058LOC102724058umls:C0014544GWASCATGenetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.0.122014SCN1A;LOC1027240582166001881TC
rs1302641422949513101927235LOC101927235umls:C0014544GWASCATGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.0.122012LOC101927235;LOC105377629;LOC105377630;LOC105377632257706920CT
rs14905533425489633114327EFHC1umls:C0014544BeFreePublic databases also show that the EFHC1 P77T-R221H JME haplotype is present in unphenotyped West African ancestry populations, and we show that it can be found at appreciable frequency in healthy individuals with no family history of epilepsy.0.0048958852014EFHC1652424111CA
rs1611115228818361621DBHumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013DBH9133635393TC
rs1611115228818361312COMTumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013DBH9133635393TC
rs16944225786593569IL6umls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0013572092012IL1B2112837290AG
rs16944225786593553IL1Bumls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0024429772012IL1B2112837290AG
rs16969925219943746324SCN1Bumls:C0014544BeFreeIn contrast, two other SCN1B mutations associated with epilepsy, p.C121W and p.R85H, are expressed at the cell surface.0.014821022011SCN1B1935033545GA
rs1800497228818361621DBHumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013ANKK111113400106GA
rs1800497228818361312COMTumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013ANKK111113400106GA
rs1800629225786593553IL1Bumls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0024429772012TNF631575254GA
rs1800629225786593569IL6umls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0013572092012TNF631575254GA
rs1800795225786593553IL1Bumls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0024429772012IL6;LOC541472722727026CG
rs1800795225786593569IL6umls:C0014544BeFreeTo understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy.0.0013572092012IL6;LOC541472722727026CG
rs1801545186259633785KCNQ2umls:C0014544BeFreeIn KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004).0.1400306172008KCNQ22063414925GC,A
rs1805087215432384548MTRumls:C0014544BeFreeThe purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHFR (C677T), MTR (A2756G), and MTHFD1 (G1958A), as well as to analyze the concentration of homocysteine (Hcy), methionine (Met), asymmetric dimethylarginine (ADMA), and arginine (Arg) in epileptics treatment with antiepileptic drugs (AEDs), and controls.0.0029099162011MTR1236885200AG
rs1805087215432384524MTHFRumls:C0014544BeFreeThe purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHFR (C677T), MTR (A2756G), and MTHFD1 (G1958A), as well as to analyze the concentration of homocysteine (Hcy), methionine (Met), asymmetric dimethylarginine (ADMA), and arginine (Arg) in epileptics treatment with antiepileptic drugs (AEDs), and controls.0.0226367532011MTR1236885200AG
rs1939012250870784317MMP8umls:C0014544GWASCATGenetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.0.122014MMP811102724404TC
rs193929358172593763767KCNJ11umls:C0014544BeFreeHere we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel.0.0103445862007KCNJ111117387091CT
rs2032582242138305243ABCB1umls:C0014544BeFreeThe drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children.0.1943389872013ABCB1787531302AT,C
rs2071197243845578856NR1I2umls:C0014544BeFreeThe common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy.0.0031813582014HNF4A2044401795GA
rs2071197243845571577CYP3A5umls:C0014544BeFreeThe common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy.0.0029099162014HNF4A2044401795GA
rs2071197243845573172HNF4Aumls:C0014544BeFreeThe common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy.0.0002714422014HNF4A2044401795GA
rs211037222392875243ABCB1umls:C0014544BeFreeRole of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.0.1943389872012GABRG25162101274CT
rs211037240612002554GABRA1umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0048100092014GABRG25162101274CT
rs211037240612002559GABRA6umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0005428842014GABRG25162101274CT
rs211037231409952566GABRG2umls:C0014544BeFreeGABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis.0.0178068812013GABRG25162101274CT
rs211037240612002566GABRG2umls:C0014544BeFreeGABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.0.0178068812014GABRG25162101274CT
rs211037240612002561GABRB2umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0008143262014GABRG25162101274CT
rs2229944240612002554GABRA1umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0048100092014GABRB25161294312GA
rs2229944240612002561GABRB2umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0008143262014GABRB25161294312GA
rs2229944240612002559GABRA6umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0005428842014GABRB25161294312GA
rs2273697258473391244ABCC2umls:C0014544BeFreeThe recessive model of MRP2 G1249A polymorphism decrease the risk of drug-resistant in Asian Epilepsy: a systematic review and meta-analysis.0.0093485762015ABCC21099804058GA
rs2273697246249131244ABCC2umls:C0014544BeFreeABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts.0.0093485762015ABCC21099804058GA
rs2279020240612002559GABRA6umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0005428842014GABRA15161895883GA
rs2279020240612002554GABRA1umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0048100092014GABRA15161895883GA
rs2279020240612002561GABRB2umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0008143262014GABRA15161895883GA
rs22920962211693923271CAMSAP2umls:C0014544GAD[Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.]0.1229099162012CAMSAP21200857641AG
rs22920962211693923271CAMSAP2umls:C0014544GWASCATTwo-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.0.1229099162012CAMSAP21200857641AG
rs2304016187846176326SCN2Aumls:C0014544GAD[Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.]0.1436888452008SCN2A2165311993AG
rs267608436179935796792CDKL5umls:C0014544BeFreeWe screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).0.020050482008CDKL5X18575402GA
rs267608511179935796792CDKL5umls:C0014544BeFreeWe screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).0.020050482008CDKL5X18588058TC
rs267608665194282766792CDKL5umls:C0014544BeFreeA novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.0.020050482010RS1;CDKL5X18650520CT
rs281865071159641971141CHRNB2umls:C0014544BeFreeThe CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.0.0010857672005CHRNB21154571759CG
rs28934906202316674204MECP2umls:C0014544BeFreeMECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%).0.0141685162010MECP2X154031355GA
rs28934907202316674204MECP2umls:C0014544BeFreeMECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%).0.0141685162010MECP2X154032268GC,A
rs28935468202316674204MECP2umls:C0014544BeFreeMECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%).0.0141685162010MECP2X154030912GA
rs2920502255952636854SYN2umls:C0014544BeFreeEvidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians.0.0031813582014PPARG312287696GC
rs3219151240612002561GABRB2umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0008143262014GABRA65161701908CT
rs3219151240612002559GABRA6umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0005428842014GABRA65161701908CT
rs3219151240612002554GABRA1umls:C0014544BeFreeWe investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.0.0048100092014GABRA65161701908CT
rs3740066246249131244ABCC2umls:C0014544BeFreeABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts.0.0093485762015ABCC21099844450CT,G
rs3755724255952636854SYN2umls:C0014544BeFreeEvidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians.0.0031813582014SYN2;TIMP4312159406CT
rs3773364255952636854SYN2umls:C0014544BeFreeEvidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians.0.0031813582014SYN2312148468AG
rs3812718240763506323SCN1Aumls:C0014544BeFreeSCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.0.3234669842013SCN1A2166053034CT
rs3812718256685176323SCN1Aumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.3234669842015SCN1A2166053034CT
rs3812718256685176095RORAumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.0002714422015SCN1A2166053034CT
rs3815823237513089961MVPumls:C0014544BeFreeWe conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied.0.0005428842013MVP1629847228GA
rs3815824237513089961MVPumls:C0014544BeFreeWe conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied.0.0005428842013MVP1629841539CT
rs386596107221196356648SOD2umls:C0014544BeFreeThe association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism and the serum aminotransferase levels was retrospectively investigated in 207 valproic acid-treated patients with epilepsy.0.0005428842012NANANANANA
rs386596107253722906648SOD2umls:C0014544BeFreeOur results showed that the SOD2 Val16Ala polymorphism has an impact on the relationship between VPA exposure and γ-GT elevation in patients with epilepsy.0.0005428842014NANANANANA
rs38660211821890420627BDNFumls:C0014544BeFreeThe Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS.0.130629842011NANANANANA
rs386833981176076061203CLN5umls:C0014544BeFreeWe report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset.0.0005428842007CLN51377000517TG
rs387906783200228853767KCNJ11umls:C0014544BeFreeWe report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy.0.0103445862010KCNJ111117387913AT
rs397507444159706294524MTHFRumls:C0014544BeFreeScreening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia.0.0226367532004MTHFR111794407TG
rs397507444241837354524MTHFRumls:C0014544BeFreeThe role of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene (MTHFR) on the increase of plasma tHcy in patients with epilepsy taking AEDs is still controversial.0.0226367532013MTHFR111794407TG
rs3986122949513375449MAST4umls:C0014544GWASCATGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.0.122012MAST4566856430AG
rs4680228818361621DBHumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013COMT;MIR47612219963748GA
rs4680228818361312COMTumls:C0014544BeFreeStage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A).0.0002714422013COMT;MIR47612219963748GA
rs4788187237513089961MVPumls:C0014544BeFreeWe conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied.0.0005428842013MVP1629834364TC
rs4828696242364842555GABRA2umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014GABRA3X152413524TC
rs4828696242364842554GABRA1umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0048100092014GABRA3X152413524TC
rs4828696242364842556GABRA3umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014GABRA3X152413524TC
rs4880221196356648SOD2umls:C0014544BeFreeThe association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism and the serum aminotransferase levels was retrospectively investigated in 207 valproic acid-treated patients with epilepsy.0.0005428842012SOD26159692840AG
rs4880253722906648SOD2umls:C0014544BeFreeOur results showed that the SOD2 Val16Ala polymorphism has an impact on the relationship between VPA exposure and γ-GT elevation in patients with epilepsy.0.0005428842014SOD26159692840AG
rs4986790208070777099TLR4umls:C0014544BeFreeA total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism.0.0031813582010TLR49117713024AG
rs4986791208070777099TLR4umls:C0014544BeFreeA total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism.0.0031813582010TLR49117713324CT
rs511310242364842554GABRA1umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0048100092014NA446237987AG
rs511310242364842555GABRA2umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014NA446237987AG
rs511310242364842556GABRA3umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014NA446237987AG
rs590073842478633510452TOMM40umls:C0014544BeFreeCompared with children carrying the GG allele, children with genotype GT or TT in a specific genetic variation (rs59007384 located in the nearby TOMM40 gene) had excess risk for worse fine motor function (Odds ratio (OR): 1.82; 95% Confidence interval (CI): 1.10-2.99; p = 0.019) and epilepsy (OR: 2.32; CI: 1.17-4.61; p = 0.016).0.0002714422014TOMM401944893408GT
rs61749721202316674204MECP2umls:C0014544BeFreeMECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%).0.0141685162010MECP2X154031065GA
rs635311196057333497IGHEumls:C0014544BeFreeThe AE3-A867D allele in humans has been associated with the development of IGE (IGE), which accounts for approximately 30% of all epilepsies.0.0013572092009SLC4A32219637645AC,T
rs635311196057336508SLC4A3umls:C0014544BeFreeThe AE3-A867D allele in humans has been associated with the development of IGE (IGE), which accounts for approximately 30% of all epilepsies.0.0029099162009SLC4A32219637645AC,T
rs63750231152306975663PSEN1umls:C0014544BeFreeCA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.0.0008143262004PSEN11473198100AC,G
rs671253139981991ELANEumls:C0014544BeFreeThe ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels.0.0002714422014ALDH212111803962GA
rs67125313998217ALDH2umls:C0014544BeFreeThe ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels.0.0002714422014ALDH212111803962GA
rs6732655250870786323SCN1Aumls:C0014544GWASCATMeta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy.0.3234669842014SCN1A2166038556AT
rs6883877242364842554GABRA1umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0048100092014GABRA15161851332CT
rs6883877242364842556GABRA3umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014GABRA15161851332CT
rs6883877242364842555GABRA2umls:C0014544BeFreeFurther multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149).0.0002714422014GABRA15161851332CT
rs72700966239627205789PTPRDumls:C0014544GWASCATA genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.0.122014PTPRD910505224CT
rs7976118325489633114327EFHC1umls:C0014544BeFreePublic databases also show that the EFHC1 P77T-R221H JME haplotype is present in unphenotyped West African ancestry populations, and we show that it can be found at appreciable frequency in healthy individuals with no family history of epilepsy.0.0048958852014EFHC1652452776GA
rs80356616160876823767KCNJ11umls:C0014544BeFreeRecent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).0.0103445862005KCNJ111117387917CT
rs80356617160876823767KCNJ11umls:C0014544BeFreeRecent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).0.0103445862005KCNJ111117387916AC
rs80356624160876823767KCNJ11umls:C0014544BeFreeRecent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).0.0103445862005KCNJ111117387490CT,A
rs880626256685176323SCN1Aumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.3234669842015RORA1560691230GA
rs880626256685176095RORAumls:C0014544BeFreeRORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.0.0002714422015RORA1560691230GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:207)
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
13275149rs12748963CTrs12748963221169391.74E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
14748305rs1076944GTrs1076944221169392.04E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
134750936rs771390TCrs771390229495136.00E-07All GGE1.22[1.12-1.32] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs771390-CResearch Support, Non-U.S. Gov'tCNA
177751193rs10747353ACrs10747353221169393.49E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
177768778rs10493603AGrs10493603221169393.26E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
177784762rs12751884AGrs12751884221169393.11E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
177815566rs1010196CTrs1010196221169394.34E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
196025546rs1396626GArs1396626221169393.32E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
197316690rs11584143GArs11584143221169391.22E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1115877522rs10858075CTrs10858075221169393.37E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1146969411rs12406844CTrs12406844221169392.98E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1169405517rs12092506AGrs12092506221169392.13E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1186870072rs12720541GTrs12720541229495139.00E-06GAE1.21[1.10-1.35] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs12720541-TResearch Support, Non-U.S. Gov'tGPLA2G4A
1200703541rs6660197CTrs6660197221169396.78E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1200811765rs12742404AGrs12742404221169396.39E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1200826769rs2292096AGrs2292096221169391.00E-08NA1.59NA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1239970097rs12059546AGrs12059546229495134.00E-08JME1.42[1.26-1.61] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs12059546-GResearch Support, Non-U.S. Gov'tACHRM3
215106804rs4670047CTrs4670047221169396.02E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
215110323rs7587023CTrs7587023221169394.37E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
257934055rs13026414CTrs13026414229495132.00E-09All GGE1.23[1.15-1.32] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs13026414-CResearch Support, Non-U.S. Gov'tCNA
258094873rs2717068ACrs2717068229495134.00E-07GAE1.27[1.16-1.40] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs2717068-TResearch Support, Non-U.S. Gov'tGNA
267952811rs4671197TCrs4671197221169392.96E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278117502rs10865432CArs10865432221169391.93E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278120305rs1897616CTrs1897616221169393.68E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
278124090rs10172925GArs10172925221169391.47E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
278133560rs7602889TCrs7602889221169391.30E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
278139549rs4853352GArs4853352221169395.50E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
278144479rs4853355GArs4853355221169393.88E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
278145340rs1433197TCrs1433197221169396.06E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
278170534rs1368502GArs1368502221169392.15E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
278199268rs1074192CTrs1074192221169396.97E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278214766rs1609077TCrs1609077221169396.34E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278221253rs2163873TGrs2163873221169398.01E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278263883rs1527194TCrs1527194221169397.08E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
278302215rs2164851GArs2164851221169391.49E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278311781rs1437985TCrs1437985221169393.57E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
278314039rs6547183TCrs6547183221169393.59E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
278332806rs10173591CTrs10173591221169394.93E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
278341245rs1370637CArs1370637221169395.57E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
286683642rs2030259AGrs2030259221169394.14E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
286720841rs2367575CTrs2367575221169393.19E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
2145359909rs10496964CTrs10496964229495139.00E-09GAE1.47[1.28-1.67] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs10496964-CResearch Support, Non-U.S. Gov'tCNA
2154745009rs16834756AGrs16834756221169393.68E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
2166943277rs11890028TGrs11890028229495134.00E-06All GGE1.18[1.09-1.27] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs11890028-TResearch Support, Non-U.S. Gov'tGSCN1A
2212350245rs13021324TCrs13021324221169391.59E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
2212351667rs9941626TGrs9941626221169391.23E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
2223567016rs951997AGrs951997221169394.53E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
2237531788rs7588302TCrs7588302221169391.78E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
321686466rs1387822GArs1387822221169392.51E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
321701712rs1320292AGrs1320292221169391.82E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
321719246rs1490157CTrs1490157221169392.36E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
331851726rs6773772TCrs6773772221169393.41E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
340267321rs2679822TCrs2679822221169396.76E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
340273500rs6599081AGrs6599081221169391.29E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
340275655rs2371136CTrs2371136221169391.29E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
3106928929rs11915523AGrs11915523221169391.36E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
3115522560rs1062118AGrs1062118221169392.96E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
3171292911rs387048CArs387048221169397.26E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
3171301434rs626270TCrs626270221169391.62E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
3171304058rs372623CTrs372623221169396.40E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
3183425850rs7612556AGrs7612556221169394.97E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
3183455153rs262977AGrs262977221169392.72E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
3183476685rs262993GArs262993221169394.62E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
3183517999rs263044AGrs263044221169393.52E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
3183527618rs263025TCrs263025221169394.76E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
3192223737rs4687336GArs4687336221169397.06E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
427298305rs6821695TCrs6821695221169395.23E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
455455944rs17826780CTrs17826780221169394.31E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
477763998rs10518159CTrs10518159221169399.32E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
478193913rs10518170AGrs10518170221169391.12E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
4127213903rs10011584TGrs10011584221169397.03E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
4150457508rs1394028CTrs1394028221169395.46E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
4150483241rs2654798AGrs2654798221169395.20E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
4150520884rs2654831TGrs2654831221169393.93E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
4150725212rs10030601TCrs10030601229495131.00E-06GAE1.58[1.29-1.93] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs10030601-CResearch Support, Non-U.S. Gov'tCLOC285423
4165404456rs4691122TGrs4691122221169394.58E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
4170146632rs1876398GArs1876398221169392.57E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
4170166749rs1876396CTrs1876396221169391.99E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
4170203848rs13112591ACrs13112591221169391.33E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
4171634933rs7663379TCrs7663379221169395.47E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
528585628rs4478333GArs4478333221169394.09E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
535668036rs2172754AGrs2172754221169391.89E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG,A
535677385rs6872795AGrs6872795221169391.32E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
541302815rs320614GArs320614221169394.24E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
566152258rs39861AGrs39861229495133.00E-07JME1.26[1.13-1.41] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs39861-CResearch Support, Non-U.S. Gov'tTMAST4
5104490887rs10043572CTrs10043572221169394.10E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
5120369453rs17147260ACrs17147260221169391.49E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
5133023122rs10751462AGrs10751462221169391.43E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
5133037459rs720770CTrs720770221169391.81E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
5133047775rs6596147TCrs6596147221169392.97E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
5142529960rs258799TGrs258799221169391.90E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
5164148566rs1293554GArs1293554221169392.14E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
5166887629rs1864975TCrs1864975221169393.39E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
67267582rs2842363AGrs2842363221169391.75E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
622365762rs1205918AGrs1205918221169395.40E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
680564519rs9341799TCrs9341799221169392.08E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
680564836rs346291CTrs346291221169392.51E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
693942185rs1486756AGrs1486756221169391.85E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
6101957291rs7747072TCrs7747072221169391.56E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
6101964914rs9390754AGrs9390754221169395.46E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
6102307069rs9390790GArs9390790221169396.00E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
6102327303rs4840200TCrs4840200221169391.42E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
6133350936rs3012465AGrs3012465221169391.57E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
6133768525rs17062561AGrs17062561221169394.31E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
6133803682rs6905892CTrs6905892221169398.98E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
75618237rs2693946CTrs2693946221169399.12E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
724468539rs12533743TCrs12533743221169393.64E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
749362161rs1529590CTrs1529590221169392.20E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
797857675rs2270604TCrs2270604221169394.17E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
797880226rs954050TCrs954050221169391.18E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
797965016rs3801263AGrs3801263221169393.02E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT,C
797972946rs6945554TCrs6945554221169393.02E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
797975542rs6961129TGrs6961129221169392.91E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
7120155270rs702416CTrs702416221169392.61E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
7120156307rs802333TCrs802333221169395.12E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
7120169316rs802372AGrs802372221169394.16E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
7157700614rs6944306CTrs6944306221169397.59E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
7157734314rs920023AGrs920023221169394.02E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
7157735966rs12670619GTrs12670619221169396.76E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
7157736936rs10249811TGrs10249811221169392.32E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
7157743779rs2164217CTrs2164217221169393.56E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
853031607rs1346159GArs1346159221169391.61E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG,A
853393301rs2613258CArs2613258221169396.85E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
859254904rs7820691TCrs7820691221169391.93E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
866690822rs974149AGrs974149221169393.02E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
866753261rs6472225CTrs6472225221169397.09E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
892970153rs4500123AGrs4500123221169391.39E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
8129314766rs976226GArs976226221169393.00E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
8132531794rs273413GArs273413221169397.24E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC,T
8139379964rs340707TCrs340707221169394.05E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
92640805rs10967306GArs10967306221169393.94E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
920219315rs2034875GArs2034875221169396.64E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
926117767rs16910176TCrs16910176221169391.87E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
936154678rs10814339ACrs10814339221169393.47E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
989327192rs4878007TCrs4878007221169396.54E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
9110280496rs7041758CTrs7041758221169393.14E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
9110418574rs7849612GArs7849612221169398.36E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
9117120680rs7866925CTrs7866925221169395.01E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
9120031365rs4837062GArs4837062221169391.31E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
9120043171rs7026789TCrs7026789221169391.35E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
9131953598rs10760593CTrs10760593221169392.20E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1056411659rs1414686TCrs1414686221169393.14E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1057578424rs4935610GTrs4935610221169392.14E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1067653901rs1942006CTrs1942006221169394.07E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
10127738918rs1710278GArs1710278221169395.49E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
10127744829rs1710293ACrs1710293221169391.67E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
10127755544rs1278280TGrs1278280221169396.67E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
114953462rs840716GTrs840716221169392.66E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1129897097rs10501120GArs10501120221169397.46E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1129938269rs12222280TCrs12222280221169391.12E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1140276725rs1037412AGrs1037412221169391.01E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1185526151rs11607789CTrs11607789221169394.08E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
11105503658rs4754133TCrs4754133221169395.29E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
11105588070rs12808612AGrs12808612221169399.92E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
11118793613rs11217091TCrs11217091221169394.89E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
123374675rs7296705TCrs7296705221169396.20E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1232378417rs792853GArs792853221169391.50E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1240697434rs10784498GArs10784498221169394.37E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1240768582rs4768239GArs4768239221169391.30E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1240792224rs11564172CArs11564172221169397.98E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1298208150rs11109229GTrs11109229221169394.30E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
12109432616rs1865147GTrs1865147221169398.52E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
12125778841rs12146745GTrs12146745221169398.15E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1331958011rs1571029GArs1571029221169391.74E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1351588003rs9526715CTrs9526715221169394.28E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1385528032rs4911044TGrs4911044221169393.14E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1385588545rs1354033TCrs1354033221169391.12E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1385605946rs2485241TCrs2485241221169391.07E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1385609277rs2485247TCrs2485247221169393.97E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1444130700rs4900643GTrs4900643221169391.94E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1497331618rs10135704TCrs10135704221169399.51E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1525063397rs17114774GArs17114774221169391.11E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1525064483rs7171320TCrs7171320221169391.20E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1555125380rs8025011GTrs8025011221169391.47E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1558992591rs11853043TCrs11853043221169391.00E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1560983429rs880626GArs880626221169391.51E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1595473145rs4281667TGrs4281667221169391.62E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1595479659rs8037155TGrs8037155221169392.35E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
164103871rs2601828TCrs2601828221169391.04E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1623959420rs1989647GArs1989647221169398.89E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1649997941rs6500271GTrs6500271221169391.48E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1665170890rs3890768CArs3890768221169392.38E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1684448418rs17741422TCrs17741422221169393.31E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
1740219433rs1076188TGrs1076188221169393.61E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1740224118rs4796768CTrs4796768221169391.21E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1746123004rs72823592GArs72823592229495139.00E-09All GGE1.3[1.20-1.41] 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controlsEuropean(3988)ALL(3988)EUR(3988)ALL(3988)Epilepsy (generalized)HPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyrs72823592-GResearch Support, Non-U.S. Gov'tGNA
1748195818rs531650995CACAGCrs739500221169392.27E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
1748195818rs739500CTrs739500221169392.27E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
18196829rs655781GArs655781221169391.56E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
18204232rs585578GArs585578221169391.40E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
18218695rs481077TCrs481077221169391.82E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
18220658rs672856GArs672856221169391.57E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
18250047rs577454TCrs577454221169391.76E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
18286971rs620837CArs620837221169397.83E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tA
18287648rs16941940TGrs16941940221169397.06E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
18322183rs554821GArs554821221169392.62E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
18322522rs621636CTrs621636221169392.59E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1822714149rs7228750GArs7228750221169393.53E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
1957109821rs10420820CTrs10420820221169392.19E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
1957113178rs3752183CTrs3752183221169391.60E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
206700202rs6054486TGrs6054486221169399.16E-06NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
2118863967rs2824332CTrs2824332221169391.22E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
2118900044rs2824335CArs2824335221169394.30E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tC
2120124969rs1573443CTrs1573443221169392.06E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
2120126875rs11700947CTrs11700947221169391.13E-04NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
2131196773rs9983495GTrs9983495221169395.49E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tG
2141743639rs1980406TCrs1980406221169391.12E-05NANANA504 Han Chinese cases; 2,947 Han Chinese controlsHan Chinese(3451)ALL(3451)ASN(3451)ALL(3451)EpilepsyHPOID:0001250SeizuresDOID:1826epilepsy syndromeD004827EpilepsyEFOID:0000474epilepsyEpilepsyNAMeta-AnalysisResearch Support, Non-U.S. Gov'tT
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:50)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0014544amitriptylineD00063950-48-6epilepsyMESH:D004827marker/mechanism5823053
C0014544amphetamineD000661300-62-9epilepsyMESH:D004827marker/mechanism8765941
C0014544amphetamineD000661300-62-9epilepsyMESH:D004827therapeutic7715822
C0014544ampicillinD00066769-53-4epilepsyMESH:D004827marker/mechanism8487076
C0014544atropineD00128551-55-8epilepsyMESH:D004827therapeutic4058572
C0014544busulfanD00206655-98-1epilepsyMESH:D004827marker/mechanism2041395
C0014544carbacholD002217-epilepsyMESH:D004827marker/mechanism4058572
C0014544carbamazepineD002220298-46-4epilepsyMESH:D004827therapeutic10371552
C0014544chloramphenicolD00270156-75-7epilepsyMESH:D004827marker/mechanism8487076
C0014544cimetidineD00292751481-61-9epilepsyMESH:D004827marker/mechanism6489391
C0014544ciprofloxacinD00293985721-33-1epilepsyMESH:D004827marker/mechanism8487076
C0014544citalopramD01528359729-33-8epilepsyMESH:D004827therapeutic20707986
C0014544clonidineD0030004205-90-7epilepsyMESH:D004827marker/mechanism15792900
C0014544clozapineD0030245786-21-0epilepsyMESH:D004827marker/mechanism1480676
C0014544clozapineD0030245786-21-0epilepsyMESH:D004827therapeutic3751418
C0014544dronabinolD013759-epilepsyMESH:D004827therapeutic821787
C0014544cisplatinD00294515663-27-1epilepsyMESH:D004827marker/mechanism15354722
C0014544enoxacinD01536574011-58-8epilepsyMESH:D004827marker/mechanism9010832
C0014544erythromycinD004917114-07-8epilepsyMESH:D004827marker/mechanism8487076
C0014544ethosuximideD00501377-67-8epilepsyMESH:D004827therapeutic812426
C0014544felbamateC04736025451-15-4epilepsyMESH:D004827therapeutic7705426
C0014544fluoxetineD00547354910-89-3epilepsyMESH:D004827therapeutic12632110
C0014544fluvoxamineD01666654739-18-3epilepsyMESH:D004827marker/mechanism1958958
C0014544folic acidD00549259-30-3epilepsyMESH:D004827marker/mechanism1115018
C0014544gabapentinC04002960142-96-3epilepsyMESH:D004827therapeutic16675199
C0014544griseofulvinD006118126-07-8epilepsyMESH:D004827marker/mechanism595848
C0014544haloperidolD00622052-86-8epilepsyMESH:D004827marker/mechanism3751418
C0014544metaraminolD00868054-49-9epilepsyMESH:D004827marker/mechanism2524805
C0014544ifosfamideD0070693778-73-2epilepsyMESH:D004827marker/mechanism15354722
C0014544imipramineD00709950-49-7epilepsyMESH:D004827marker/mechanism5823053
C0014544lamotrigineC04778184057-84-1epilepsyMESH:D004827therapeutic10948577
C0014544lidocaineD008012137-58-6epilepsyMESH:D004827marker/mechanism9768791
C0014544mephenytoinD0086171950/12/4epilepsyMESH:D004827therapeutic1001284
C0014544methohexitalD00872318652-93-2epilepsyMESH:D004827marker/mechanism9701374
C0014544methotrexateD0087271959/5/2epilepsyMESH:D004827marker/mechanism11019787
C0014544morphineD00902057-27-2epilepsyMESH:D004827marker/mechanism1331416
C0014544norepinephrineD00963851-41-2epilepsyMESH:D004827therapeutic821787
C0014544pefloxacinD01536670458-92-3epilepsyMESH:D004827marker/mechanism2503281
C0014544pentobarbitalD01042476-74-4epilepsyMESH:D004827therapeutic7705426
C0014544phenytoinD01067257-41-0epilepsyMESH:D004827therapeutic10219285
C0014544picrotoxinD010852124-87-8epilepsyMESH:D004827marker/mechanism1922924
C0014544pilocarpineD01086292-13-7epilepsyMESH:D004827marker/mechanism10401644
C0014544pregabalinD000069583-epilepsyMESH:D004827therapeutic25290014
C0014544protriptylineD011530438-60-8epilepsyMESH:D004827marker/mechanism5823053
C0014544thalidomideD01379250-35-1epilepsyMESH:D004827marker/mechanism1278626
C0014544topiramateC05234297240-79-4epilepsyMESH:D004827therapeutic12042105
C0014544trimethadioneD014293127-48-0epilepsyMESH:D004827therapeutic413897
C0014544valproic acidD01463599-66-1epilepsyMESH:D004827marker/mechanism10846716
C0014544valproic acidD01463599-66-1epilepsyMESH:D004827therapeutic10371552
C0014544vigabatrinD02088860643-86-9epilepsyMESH:D004827therapeutic10219272
FDA approved drug and dosage information(Total Drugs:29)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D004827neurontingabapentin100MGCAPSULE;ORALPrescriptionABYesNo
MESH:D004827neurontingabapentin600MGTABLET;ORALPrescriptionABYesNo
MESH:D004827neurontingabapentin250MG/5MLSOLUTION;ORALPrescriptionAAYesYes
MESH:D004827neurontingabapentin0SOLUTION; ORALPrescriptionNoneNoNo
MESH:D004827neurontingabapentin600MGTABLET; ORALPrescriptionNoneNoNo
MESH:D004827neurontingabapentin800MGCAPSULE; ORALPrescriptionNoneNoNo
MESH:D004827neurontingabapentin250MG/5MLSOLUTION; ORALPrescriptionNoneNoNo
MESH:D004827busulfexbusulfan6MG/MLINJECTABLE;INJECTIONPrescriptionAPYesYes
MESH:D004827lamictallamotrigine100MGTABLET;ORALPrescriptionABYesNo
MESH:D004827lamictallamotrigine100MGTABLET;ORALPrescriptionABYesNo
MESH:D004827lamictallamotrigine100MGTABLET;ORALPrescriptionABYesNo
MESH:D004827lamictal xrlamotrigine25MGTABLET, EXTENDED RELEASE;ORALPrescriptionABYesNo
MESH:D004827lamictal xrlamotrigine25MGTABLET, EXTENDED RELEASE;ORALPrescriptionABYesNo
MESH:D004827lamictal xrlamotrigine25MGTABLET, EXTENDED RELEASE;ORALPrescriptionABYesNo
MESH:D004827ciprociprofloxacin400MG/40ML (10MG/ML)INJECTABLE;INJECTIONDiscontinuedNoneYesNo
MESH:D004827ciprociprofloxacin250MG/5MLFOR SUSPENSION;ORALPrescriptionABYesNo
MESH:D004827topamaxtopiramate100MGTABLET;ORALPrescriptionABYesYes
MESH:D004827topamaxtopiramate15MGCAPSULE;ORALPrescriptionABYesNo
MESH:D004827topamaxtopiramate100MGTABLET;ORALPrescriptionABYesYes
MESH:D004827topamaxtopiramate15MGCAPSULE;ORALPrescriptionABYesNo
MESH:D004827topamaxtopiramate100MGTABLET;ORALPrescriptionABYesYes
MESH:D004827topamaxtopiramate15MGCAPSULE;ORALPrescriptionABYesNo
MESH:D004827topamaxtopiramate100MGTABLET;ORALPrescriptionABYesYes
MESH:D004827topamaxtopiramate15MGCAPSULE;ORALPrescriptionABYesNo
MESH:D004827sabrilvigabatrin500MGTABLET;ORALPrescriptionNoneYesYes
MESH:D004827sabrilvigabatrin500MG/PACKETFOR SOLUTION;ORALPrescriptionAAYesYes
MESH:D004827lyricapregabalin25MGCAPSULE;ORALPrescriptionNoneYesNo
MESH:D004827lyricapregabalin25MGCAPSULE; ORALPrescriptionNoneNoNo
MESH:D004827lyricapregabalin25MGCAPSULE; ORALPrescriptionNoneNoNo
FDA labeling changes(Total Drugs:29)
DiseaseID Pediatric_Labeling_Date Trade_Name Generic_Name_or_Proper_Name Indications Studied Label Changes Summary Product Labeling BPCA(B) PREA(P) BPCA(B) and PREA(P) Pediatric Rule (R) Sponsor Pediatric Exclusivity Granted Date NNPS
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482712/10/2000neurontingabapentinAdjunctive therapy in the treatment of partial seizuresSafety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in childrenLabelingB---Parke-Davis2/2/2000FALSE'
MESH:D00482701/13/2003busulfexbusulfanPart of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseasesThe population pharmacokinetic estimates of busulfan for clearance and volume of distribution were determined in an open-label, uncontrolled PK study in 24 pediatric patients 5 months to 16 years who received busulfan as part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases Suggested dosing regimenLabelingB---Orphan Medical12/3/2002FALSE'
MESH:D00482701/17/2003lamictallamotrigineAdjunctive therapy for partial seizuresExtended indication from adults to pediatric patients e 2 years Patients aged 2 - 18 years had clearance influenced predominantly by total body weight and concurrent antiepileptic drug (AED) therapy. The oral clearance was higher, on a body weight basis, in pediatric patients than in adults Because of increased clearance in pediatrics, maintenance doses in patients weighing < 30 kg may need an increase of as much as 50% based upon clinical response Evidence shows that the inclusion of VPA in a multi-drug regimen increases the risk of serious, potentially life-threatening rash in pediatric patients Approximately 11.5% of the 1,081 pediatric patients who received the drug as adjunctive therapy in clinical trials discontinued treatment because of an AELabelingB---GlaxoSmithKline02/14/2007FALSE'
MESH:D0048278/5/2009lamictallamotrigineAdjunctive treatment for partial seizures in pediatric patients 1  24 monthsSafety and effectiveness as adjunctive treatment for partial seizures were not demonstrated in a small randomized, double-blind, placebo-controlled, withdrawal study in pediatric patients 1 - 24 months Immediate release tablets were associated with an increased risk for infectious adverse reactions including bronchiolitis, bronchitis, ear infection, eye infection, otitis externa, pharyngitis, urinary tract infection, and viral infection (Lamictal 37%, Placebo 5%), and respiratory adverse reactions including nasal congestion, cough, and apnea. (Lamictal 26%, Placebo 5%)LabelingB---GlaxoSmithKline02/14/2007FALSE'
MESH:D00482705/18/2015lamictallamotrigineMaintenance treatment of bipolar disorder Safety and efficacy for the maintenance treatment of bipolar disorder were not established in a double-blind, placebo-controlled trial that evaluated 301 pediatric patients aged 10 to 17 Information on clinical trial and adverse reactions Postmarketing studyLabeling-P--GlaxoSmithKline-FALSE
MESH:D00482705/29/2009lamictal xrlamotrigineAdjunctive therapy for partial onset seizures in patients e13 years of ageExtended release tablets are indicated as adjunctive therapy for partial onset seizures with or without secondary generalization in patients e13 years Safety and effectiveness of extended release tablets for any use in patients below the age of 13 have not been established Information on adverse event profile, and clinical studies New dosage formLabeling-P--GlaxoSmithKline-FALSE'
MESH:D00482701/29/2010lamictal xrlamotrigineAdjunctive therapy for Primary Generalized Tonic-Clonic seizuresNew indication for adjunctive therapy for primary generalized tonic-clonic seizures in patients e 13 years of age Safety and effectiveness for any use in patients < 13 years have not been established Information on dosing, adverse reactions, and clinical studiesLabeling-P--GlaxoSmithKline-FALSE'
MESH:D00482704/25/2011lamictal xrlamotrigineMonotherapy in patients 13 years of age and older with partial seizures who are receiving therapy with a single antiepileptic drug (AED)Approved for conversion to monotherapy in patients e13 years of age with partial seizures receiving treatment with a single antiepileptic drug (AED).Safety and effectiveness have not been established (1) as initial monotherapy or (2) for simultaneous conversion to monotherapy from two or more concomitant AEDsInformation on conversion to monotherapy, adverse reactions, clinical trialNew indicationLabeling-P--GlaxoSmithKline-FALSE'
MESH:D00482703/25/2004ciprociprofloxacinComplicated UTI and pyelonephritisIndicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1  17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1  17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectivelyLabelingB---Bayer12/18/2003FALSE'
MESH:D00482703/25/2004ciprociprofloxacinComplicated UTI and pyelonephritisIndicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1  17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1  17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectivelyLabelingB---Bayer12/18/2003FALSE'
MESH:D00482712/22/2009topamaxtopiramateMigraine ProphylaxisSafety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric UseLabeling-P--Ortho-McNeil-Janssen-FALSE'
MESH:D00482712/22/2009topamaxtopiramateMigraine ProphylaxisSafety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric UseLabeling-P--Ortho-McNeil-Janssen-FALSE'
MESH:D00482712/22/2009topamaxtopiramateAdjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 monthsEffectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric UseLabelingB---Ortho-McNeil-Janssen07/24/2008FALSE'
MESH:D00482712/22/2009topamaxtopiramateAdjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 monthsEffectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric UseLabelingB---Ortho-McNeil-Janssen07/24/2008FALSE'
MESH:D00482707/15/2011topamaxtopiramateMonotherapy for partial onset or primary generalized tonic-clonic seizuresExpanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing studyLabeling-P--Janssen-FALSE'
MESH:D00482707/15/2011topamaxtopiramateMonotherapy for partial onset or primary generalized tonic-clonic seizuresExpanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing studyLabeling-P--Janssen-FALSE'
MESH:D00482703/28/2014topamaxtopiramateProphylaxis of migraine headacheApproved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing studyLabeling-P--Janssen-FALSE'
MESH:D00482703/28/2014topamaxtopiramateProphylaxis of migraine headacheApproved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing studyLabeling-P--Janssen-FALSE'
MESH:D00482710/26/2013sabrilvigabatrinRefractory complex partial seizures (rCPS)Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trialsLabeling--B,P-Lundbeck LLC3/10/2013FALSE'
MESH:D00482710/26/2013sabrilvigabatrinRefractory complex partial seizures (rCPS)Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trialsLabeling--B,P-Lundbeck LLC3/10/2013FALSE'
MESH:D00482712/22/2016lyricapregabalinFibromyalgiaSafety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study.Labeling-P--PF Prism CV-FALSE
MESH:D00482712/22/2016lyricapregabalinFibromyalgiaSafety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study.Labeling-P--PF Prism CV-FALSE
MESH:D00482712/22/2016lyricapregabalinFibromyalgiaSafety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study.Labeling-P--PF Prism CV-FALSE