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	status epilepticus

Disease ID	930
Disease	status epilepticus
Definition	A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)
Synonym	[x]status epilepticus, unspecified [x]status epilepticus, unspecified (disorder) epilepticus status generalized status epilepticus status epilepticus (disorder) status epilepticus [disease/finding] status epilepticus nos status epilepticus, generalized
DOID	DOID:1824
UMLS	C0038220
MeSH	D013226
SNOMED-CT	SNOMEDCT_US_2016_09_01:230456007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:55) C0014544 \| epilepsy \| 21 C0014038 \| encephalitis \| 11 C0014556 \| temporal lobe epilepsy \| 4 C0040147 \| thyroiditis \| 2 C0025289 \| meningitis \| 2 C0751122 \| dravet syndrome \| 2 C0270853 \| juvenile myoclonic epilepsy \| 2 C0270612 \| leukoencephalopathy \| 2 C0022336 \| creutzfeldt-jakob disease \| 2 C0026934 \| mycoplasma \| 1 C0014544 \| seizure disorder \| 1 C0041948 \| uremia \| 1 C0016667 \| fragile x syndrome \| 1 C0017636 \| glioblastoma \| 1 C0009324 \| ulcerative colitis \| 1 C0030567 \| parkinson's disease \| 1 C0265252 \| coffin-lowry syndrome \| 1 C0017205 \| gaucher disease \| 1 C0010346 \| crohn's disease \| 1 C0011570 \| depression \| 1 C0007789 \| cerebral palsy \| 1 C0684249 \| lung carcinoma \| 1 C0679466 \| cognitive deficits \| 1 C0036992 \| short bowel syndrome \| 1 C0027145 \| myxoedema \| 1 C0004775 \| bartter syndrome \| 1 C0002895 \| sickle cell disease \| 1 C0019151 \| hepatic encephalopathy \| 1 C0751778 \| progressive myoclonus epilepsy \| 1 C0018784 \| sensorineural deafness \| 1 C0043092 \| wegener's granulomatosis \| 1 C0023524 \| progressive multifocal leukoencephalopathy \| 1 C0149782 \| squamous cell lung carcinoma \| 1 C0014547 \| partial epilepsy \| 1 C0409974 \| lupus erythematosus \| 1 C0920350 \| autoimmune thyroiditis \| 1 C0041296 \| tuberculosis \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0085543 \| epilepsia partialis continua \| 1 C0007282 \| carotid stenosis \| 1 C0032285 \| pneumoniae \| 1 C0041318 \| tuberculous meningitis \| 1 C0032302 \| mycoplasma pneumonia \| 1 C0026769 \| multiple sclerosis \| 1 C0042769 \| viral infection \| 1 C0018552 \| hamartoma \| 1 C0041341 \| tuberous sclerosis \| 1 C0085437 \| bacterial meningitis \| 1 C0003537 \| aphasia \| 1 C0155550 \| neural deafness \| 1 C1096063 \| intractable epilepsy \| 1 C1621958 \| glioblastoma multiforme \| 1 C0034063 \| pulmonary edema \| 1 C0020456 \| hyperglycemia \| 1 C0677607 \| hashimoto's thyroiditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:67) 1965 \| EIF2S1 \| CTD_human 7124 \| TNF \| CTD_human 4842 \| NOS1 \| CTD_human 1244 \| ABCC2 \| CTD_human 3162 \| HMOX1 \| CTD_human 7422 \| VEGFA \| CTD_human 3315 \| HSPB1 \| CTD_human 4843 \| NOS2 \| CTD_human 5979 \| RET \| CTD_human 57468 \| SLC12A5 \| CTD_human 3725 \| JUN \| CTD_human 4908 \| NTF3 \| CTD_human 9451 \| EIF2AK3 \| CTD_human 1756 \| DMD \| CTD_human 847 \| CAT \| CTD_human 8645 \| KCNK5 \| CTD_human 8678 \| BECN1 \| CTD_human 1268 \| CNR1 \| CTD_human 488 \| ATP2A2 \| CTD_human 1392 \| CRH \| CTD_human 2353 \| FOS \| CTD_human 5743 \| PTGS2 \| CTD_human 6640 \| SNTA1 \| CTD_human 627 \| BDNF \| CTD_human 4803 \| NGF \| CTD_human 6347 \| CCL2 \| CTD_human 4208 \| MEF2C \| CTD_human 3557 \| IL1RN \| CTD_human 6334 \| SCN8A \| CTD_human 3727 \| JUND \| CTD_human 55163 \| PNPO \| CTD_human 841 \| CASP8 \| CTD_human 2668 \| GDNF \| CTD_human 6714 \| SRC \| CTD_human 3920 \| LAMP2 \| CTD_human 3778 \| KCNMA1 \| CTD_human 288 \| ANK3 \| CTD_human 2056 \| EPO \| CTD_human 4915 \| NTRK2 \| CTD_human 958 \| CD40 \| CTD_human 2911 \| GRM1 \| CTD_human 361 \| AQP4 \| CTD_human 836 \| CASP3 \| CTD_human 6348 \| CCL3 \| CTD_human 4916 \| NTRK3 \| CTD_human 2185 \| PTK2B \| CTD_human 6755 \| SSTR5 \| CTD_human 2826 \| CCR10 \| CTD_human 1237 \| CCR8 \| CTD_human 834 \| CASP1 \| CTD_human 729230 \| CCR2 \| CTD_human 1236 \| CCR7 \| CTD_human 6754 \| SSTR4 \| CTD_human 6751 \| SSTR1 \| CTD_human 6752 \| SSTR2 \| CTD_human 6753 \| SSTR3 \| CTD_human 1000 \| CDH2 \| CTD_human 6547 \| SLC8A3 \| CTD_human 6546 \| SLC8A1 \| CTD_human 1232 \| CCR3 \| CTD_human 10803 \| CCR9 \| CTD_human 5610 \| EIF2AK2 \| CTD_human 2915 \| GRM5 \| CTD_human 2596 \| GAP43 \| CTD_human 8566 \| PDXK \| CTD_human 3726 \| JUNB \| CTD_human 2891 \| GRIA2 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:209) 64782 \| AEN \| 1.513 \| DISEASES 199 \| AIF1 \| 2.99 \| DISEASES 501 \| ALDH7A1 \| 2.849 \| DISEASES 10195 \| ALG3 \| 2.444 \| DISEASES 29929 \| ALG6 \| 1.486 \| DISEASES 273 \| AMPH \| 1.649 \| DISEASES 91056 \| AP5B1 \| 1.356 \| DISEASES 361 \| AQP4 \| 2.454 \| DISEASES 23237 \| ARC \| 2.437 \| DISEASES 79658 \| ARHGAP10 \| 2.003 \| DISEASES 415 \| ARSE \| 1.756 \| DISEASES 22809 \| ATF5 \| 1.055 \| DISEASES 84239 \| ATP13A4 \| 2.003 \| DISEASES 551 \| AVP \| 1.165 \| DISEASES 2583 \| B4GALNT1 \| 1.06 \| DISEASES 10018 \| BCL2L11 \| 1.359 \| DISEASES 627 \| BDNF \| 4.121 \| DISEASES 8678 \| BECN1 \| 1.07 \| DISEASES 90427 \| BMF \| 1.856 \| DISEASES 64115 \| C10orf54 \| 1.675 \| DISEASES 79680 \| C22orf29 \| 2.264 \| DISEASES 728 \| C5AR1 \| 1.105 \| DISEASES 23632 \| CA14 \| 1.075 \| DISEASES 773 \| CACNA1A \| 1.597 \| DISEASES 801 \| CALM1 \| 1.311 \| DISEASES 834 \| CASP1 \| 1.492 \| DISEASES 842 \| CASP9 \| 1.131 \| DISEASES 885 \| CCK \| 1.96 \| DISEASES 1235 \| CCR6 \| 1.241 \| DISEASES 959 \| CD40LG \| 1.256 \| DISEASES 441549 \| CDNF \| 1.146 \| DISEASES 1041 \| CDSN \| 1.215 \| DISEASES 1106 \| CHD2 \| 1.74 \| DISEASES 1137 \| CHRNA4 \| 1.143 \| DISEASES 1268 \| CNR1 \| 3.481 \| DISEASES 26047 \| CNTNAP2 \| 3.167 \| DISEASES 1325 \| CORT \| 1.587 \| DISEASES 64506 \| CPEB1 \| 1.067 \| DISEASES 1385 \| CREB1 \| 2.519 \| DISEASES 56259 \| CTNNBL1 \| 1.889 \| DISEASES 1524 \| CX3CR1 \| 2.365 \| DISEASES 1641 \| DCX \| 4.269 \| DISEASES 1649 \| DDIT3 \| 1.532 \| DISEASES 7913 \| DEK \| 1.235 \| DISEASES 1676 \| DFFA \| 1.096 \| DISEASES 81624 \| DIAPH3 \| 1.069 \| DISEASES 10059 \| DNM1L \| 2.348 \| DISEASES 1791 \| DNTT \| 2.445 \| DISEASES 8818 \| DPM2 \| 1.749 \| DISEASES 8445 \| DYRK2 \| 1.226 \| DISEASES 1944 \| EFNA3 \| 1.219 \| DISEASES 1945 \| EFNA4 \| 1.48 \| DISEASES 163126 \| EID2 \| 1.678 \| DISEASES 1967 \| EIF2B1 \| 1.406 \| DISEASES 284656 \| EPHA10 \| 1.649 \| DISEASES 2145 \| EZH1 \| 1.695 \| DISEASES 2159 \| F10 \| 1.628 \| DISEASES 2258 \| FGF13 \| 1.378 \| DISEASES 2259 \| FGF14 \| 1.341 \| DISEASES 2555 \| GABRA2 \| 1.017 \| DISEASES 2563 \| GABRD \| 1.309 \| DISEASES 2571 \| GAD1 \| 2.744 \| DISEASES 8811 \| GALR2 \| 3.285 \| DISEASES 2596 \| GAP43 \| 2.393 \| DISEASES 57459 \| GATAD2B \| 2.043 \| DISEASES 352954 \| GATS \| 1.528 \| DISEASES 2668 \| GDNF \| 1.061 \| DISEASES 2801 \| GOLGA2 \| 1.099 \| DISEASES 10243 \| GPHN \| 3.002 \| DISEASES 2897 \| GRIK1 \| 3.79 \| DISEASES 2898 \| GRIK2 \| 2.811 \| DISEASES 2899 \| GRIK3 \| 1.525 \| DISEASES 2902 \| GRIN1 \| 2.821 \| DISEASES 2903 \| GRIN2A \| 3.564 \| DISEASES 2912 \| GRM2 \| 3.183 \| DISEASES 2913 \| GRM3 \| 2.717 \| DISEASES 2918 \| GRM8 \| 2.467 \| DISEASES 352990 \| HCP5B \| 2.381 \| DISEASES 388585 \| HES5 \| 1.688 \| DISEASES 8359 \| HIST1H4A \| 1.831 \| DISEASES 8366 \| HIST1H4B \| 1.831 \| DISEASES 8364 \| HIST1H4C \| 1.831 \| DISEASES 8360 \| HIST1H4D \| 1.829 \| DISEASES 8367 \| HIST1H4E \| 1.831 \| DISEASES 8361 \| HIST1H4F \| 1.831 \| DISEASES 8294 \| HIST1H4I \| 1.831 \| DISEASES 8363 \| HIST1H4J \| 1.831 \| DISEASES 8362 \| HIST1H4K \| 1.831 \| DISEASES 8368 \| HIST1H4L \| 1.831 \| DISEASES 8370 \| HIST2H4A \| 1.831 \| DISEASES 554313 \| HIST2H4B \| 1.831 \| DISEASES 121504 \| HIST4H4 \| 1.831 \| DISEASES 3146 \| HMGB1 \| 2.384 \| DISEASES 9456 \| HOMER1 \| 2.901 \| DISEASES 3208 \| HPCA \| 1.386 \| DISEASES 3303 \| HSPA1A \| 2.491 \| DISEASES 3309 \| HSPA5 \| 1.264 \| DISEASES 3316 \| HSPB2 \| 1.486 \| DISEASES 3399 \| ID3 \| 1.849 \| DISEASES 3586 \| IL10 \| 1.034 \| DISEASES 58493 \| INIP \| 2.381 \| DISEASES 3684 \| ITGAM \| 1.099 \| DISEASES 3725 \| JUN \| 2.288 \| DISEASES 3735 \| KARS \| 1.67 \| DISEASES 3736 \| KCNA1 \| 2.209 \| DISEASES 3739 \| KCNA4 \| 1.528 \| DISEASES 3747 \| KCNC2 \| 1.848 \| DISEASES 3749 \| KCNC4 \| 2.441 \| DISEASES 3751 \| KCND2 \| 3.2 \| DISEASES 30820 \| KCNIP1 \| 2.619 \| DISEASES 30819 \| KCNIP2 \| 1.06 \| DISEASES 3766 \| KCNJ10 \| 2.432 \| DISEASES 8645 \| KCNK5 \| 1.197 \| DISEASES 3785 \| KCNQ2 \| 3.04 \| DISEASES 57582 \| KCNT1 \| 2.007 \| DISEASES 3916 \| LAMP1 \| 1.931 \| DISEASES 9211 \| LGI1 \| 3.483 \| DISEASES 3985 \| LIMK2 \| 2.629 \| DISEASES 149998 \| LIPI \| 1.403 \| DISEASES 4014 \| LOR \| 2.207 \| DISEASES 378938 \| MALAT1 \| 1.386 \| DISEASES 7873 \| MANF \| 1.161 \| DISEASES 4133 \| MAP2 \| 2.307 \| DISEASES 161357 \| MDGA2 \| 1.951 \| DISEASES 8972 \| MGAM \| 2.952 \| DISEASES 64223 \| MLST8 \| 2.176 \| DISEASES 4520 \| MTF1 \| 1.487 \| DISEASES 2475 \| MTOR \| 3.111 \| DISEASES 4566 \| MT-TK \| 2.442 \| DISEASES 9961 \| MVP \| 1.27 \| DISEASES 81565 \| NDEL1 \| 1.906 \| DISEASES 10763 \| NES \| 2.437 \| DISEASES 10725 \| NFAT5 \| 1.599 \| DISEASES 4803 \| NGF \| 1.061 \| DISEASES 378884 \| NHLRC1 \| 1.275 \| DISEASES 22871 \| NLGN1 \| 1.017 \| DISEASES 594857 \| NPS \| 1.903 \| DISEASES 4887 \| NPY2R \| 1.144 \| DISEASES 441478 \| NRARP \| 2.278 \| DISEASES 4908 \| NTF3 \| 1.695 \| DISEASES 170392 \| OIT3 \| 4.322 \| DISEASES 4987 \| OPRL1 \| 1.653 \| DISEASES 5025 \| P2RX4 \| 1.681 \| DISEASES 5027 \| P2RX7 \| 3.151 \| DISEASES 27328 \| PCDH11X \| 1.031 \| DISEASES 57526 \| PCDH19 \| 3.954 \| DISEASES 5121 \| PCP4 \| 1.154 \| DISEASES 5179 \| PENK \| 1.128 \| DISEASES 23236 \| PLCB1 \| 2.082 \| DISEASES 10687 \| PNMA2 \| 1.502 \| DISEASES 10450 \| PPIE \| 1.84 \| DISEASES 5625 \| PRODH \| 1.859 \| DISEASES 5743 \| PTGS2 \| 2.598 \| DISEASES 2185 \| PTK2B \| 1.542 \| DISEASES 53635 \| PTOV1 \| 1.032 \| DISEASES 5787 \| PTPRB \| 1.014 \| DISEASES 5803 \| PTPRZ1 \| 1.672 \| DISEASES 146713 \| RBFOX3 \| 4.889 \| DISEASES 5649 \| RELN \| 1.784 \| DISEASES 387 \| RHOA \| 1.1 \| DISEASES 6176 \| RPLP1 \| 1.811 \| DISEASES 404552 \| SCGB1D4 \| 1.266 \| DISEASES 6332 \| SCN7A \| 1.872 \| DISEASES 6334 \| SCN8A \| 3.259 \| DISEASES 51150 \| SDF4 \| 2.312 \| DISEASES 113675 \| SDSL \| 1.499 \| DISEASES 10500 \| SEMA6C \| 6.365 \| DISEASES 51460 \| SFMBT1 \| 1.269 \| DISEASES 6503 \| SLA \| 1.786 \| DISEASES 57468 \| SLC12A5 \| 4.295 \| DISEASES 6572 \| SLC18A3 \| 1.278 \| DISEASES 25769 \| SLC24A2 \| 2.1 \| DISEASES 8604 \| SLC25A12 \| 1.339 \| DISEASES 10165 \| SLC25A13 \| 1.111 \| DISEASES 6513 \| SLC2A1 \| 1.565 \| DISEASES 144195 \| SLC2A14 \| 1.076 \| DISEASES 6540 \| SLC6A13 \| 1.131 \| DISEASES 348932 \| SLC6A18 \| 1.399 \| DISEASES 6546 \| SLC8A1 \| 1.616 \| DISEASES 6547 \| SLC8A3 \| 2.116 \| DISEASES 10479 \| SLC9A6 \| 1.941 \| DISEASES 84679 \| SLC9A7 \| 1.237 \| DISEASES 23583 \| SMUG1 \| 2.35 \| DISEASES 57537 \| SORCS2 \| 1.593 \| DISEASES 25803 \| SPDEF \| 1.542 \| DISEASES 27286 \| SRPX2 \| 1.824 \| DISEASES 8428 \| STK24 \| 1.368 \| DISEASES 92335 \| STRADA \| 2.208 \| DISEASES 11171 \| STRAP \| 1.42 \| DISEASES 9900 \| SV2A \| 2.226 \| DISEASES 132204 \| SYNPR \| 2.239 \| DISEASES 6863 \| TAC1 \| 1.812 \| DISEASES 10618 \| TGOLN2 \| 1.489 \| DISEASES 79228 \| THOC6 \| 1.784 \| DISEASES 55858 \| TMEM165 \| 1.668 \| DISEASES 7124 \| TNF \| 1.298 \| DISEASES 7222 \| TRPC3 \| 2.757 \| DISEASES 7225 \| TRPC6 \| 2.183 \| DISEASES 283989 \| TSEN54 \| 1.367 \| DISEASES 706 \| TSPO \| 2.694 \| DISEASES 57348 \| TTYH1 \| 2.367 \| DISEASES 7337 \| UBE3A \| 1.361 \| DISEASES 51733 \| UPB1 \| 1.621 \| DISEASES 5212 \| VIT \| 2.141 \| DISEASES 7453 \| WARS \| 2.763 \| DISEASES 23038 \| WDTC1 \| 1.616 \| DISEASES 22803 \| XRN2 \| 1.681 \| DISEASES 404281 \| YY2 \| 2.439 \| DISEASES 9189 \| ZBED1 \| 1.316 \| DISEASES
Locus	(Waiting for update.)

Disease ID	930
Disease	status epilepticus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:67) HP:0001250 \| Seizures \| 36 HP:0001298 \| Encephalopathy \| 31 HP:0002383 \| Encephalitis \| 12 HP:0006846 \| Acute encephalopathy \| 12 HP:0000969 \| Dropsy \| 4 HP:0030692 \| Brain tumor \| 4 HP:0001297 \| Cerebral vascular events \| 4 HP:0200134 \| Epileptic encephalopathy \| 4 HP:0001289 \| Confusion \| 3 HP:0002045 \| Abnormally low body temperature \| 3 HP:0001259 \| Coma \| 3 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0100646 \| Thyroiditis \| 2 HP:0001945 \| Fever \| 2 HP:0001695 \| Cardiac arrest \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0000738 \| Sensory hallucination \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0002354 \| Memory loss \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0008619 \| Bilateral sensorineural hearing impairment \| 1 HP:0002480 \| Hepatic encephalopathy \| 1 HP:0000750 \| Late-onset speech development \| 1 HP:0012847 \| Epilepsia partialis continua \| 1 HP:0001287 \| Meningitis \| 1 HP:0100735 \| Hypertensive crisis \| 1 HP:0002401 \| Strokelike episodes \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0012174 \| Glioblastoma multiforme \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002353 \| Abnormal EEG \| 1 HP:0002529 \| Neuronal loss in central nervous system \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0030359 \| Squamous cell lung carcinoma \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0002329 \| Drowsiness \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0007359 \| Partial seizures \| 1 HP:0002367 \| Visual hallucinations \| 1 HP:0002955 \| Granulomatosis \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0002126 \| Polymicrogyria \| 1 HP:0003074 \| High blood glucose \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0001944 \| Dehydration \| 1 HP:0100546 \| Narrowing of carotid artery \| 1 HP:0003739 \| Myoclonic spasms \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0003150 \| Glutaric aciduria \| 1 HP:0002381 \| Aphasia \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0100022 \| Movement disorder \| 1 HP:0003401 \| Paresthesia \| 1 HP:0000716 \| Depression \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0012072 \| Aciduria \| 1 HP:0006927 \| Unilateral polymicrogyria \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0010566 \| Hamartoma \| 1 HP:0100806 \| Sepsis \| 1

Disease ID	930
Disease	status epilepticus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2707258 \| infections C1963101 \| encephalopathy C1962972 \| proteinuria C1868998 \| cytotoxic edema C1739395 \| takotsubo cardiomyopathy C0740265 \| acid-base disorders C0426980 \| motor symptom C0235169 \| excitability C0233763 \| visual hallucinations C0162557 \| fulminant hepatic failure C0036572 \| seizures C0035204 \| respiratory disorders C0032285 \| pneumoniae C0027927 \| neurosyphilis C0027765 \| neurologic disorders C0022660 \| acute renal failure C0018989 \| hemiparesis C0015695 \| fatty liver C0012739 \| disseminated intravascular coagulation C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0085584 \| encephalopathy \| 31 C0036572 \| seizures \| 22 C0233763 \| visual hallucinations \| 1 C0027927 \| neurosyphilis \| 1 C0032285 \| pneumoniae \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113994097	18294203	5428	POLG	umls:C0038220	BeFree	Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.	0.081628651	2008	POLG	15	89323426	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	930
Disease	status epilepticus
Case	(Waiting for update.)

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