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	childhood absence epilepsy

Disease ID	742
Disease	childhood absence epilepsy
Definition	Generalized seizure that manifests in a form of a brief episode of impairment of consciousness with or without accompanying motor phenomena such as clonic-tonic components, automatisms, or autonomic components.
Synonym	absence epilepsy absence seizure absence seizure (disorder) absence seizure (finding) absence seizure disorder absence seizures absences epilepsy absences, typical convulsion petit mal epilepsy absence epilepsy idiopathic petit mal epilepsy petit mal epilepsy, minor epilepsy, petit mal mal petit mal petit seizure mal petit seizures mals petit minor epilepsy petit mal petit mal (disorder) petit mal convulsion petit mal epilepsy petit mal seizure petit mal seizures petit-mal epilepsy petit-mal seizure petit-mal seizures primary generalized epilepsy, minor pykno-epilepsy pyknoepilepsy pyknolepsy seizure petit mal seizures absence seizures, absence seizures, petit-mal typical absence typical absence seizure typical absence seizure (disorder) typical absence seizures
Orphanet	ORPHANET:64280
DOID	DOID:1825
UMLS	C0014553
SNOMED-CT	SNOMEDCT_US_2016_09_01:432241000124101;SNOMEDCT_US_2016_09_01:79631006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0014544 \| epilepsy \| 11 C0011570 \| depression \| 4 C0014544 \| epilepsies \| 3 C0270850 \| idiopathic generalized epilepsy \| 2 C0014553 \| absence epilepsy \| 2 C0679466 \| cognitive deficits \| 2 C0038220 \| status epilepticus \| 1 C0149931 \| migraine \| 1 C0013421 \| dystonia \| 1 C0014553 \| absence seizures \| 1 C0162635 \| angelman syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 773 \| CACNA1A \| CTD_human 1181 \| CLCN2 \| CTD_human 51305 \| KCNK9 \| CTD_human 2562 \| GABRB3 \| CTD_human 8629 \| JRK \| CTD_human 114327 \| EFHC1 \| CLINVAR;CTD_human 2566 \| GABRG2 \| CTD_human 9254 \| CACNA2D2 \| CTD_human 8912 \| CACNA1H \| CTD_human 50966 \| ECA1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:63) 103 \| ADAR \| 1.423 \| DISEASES 415 \| ARSE \| 1.571 \| DISEASES 477 \| ATP1A2 \| 1.615 \| DISEASES 6046 \| BRD2 \| 2.714 \| DISEASES 773 \| CACNA1A \| 2.96 \| DISEASES 774 \| CACNA1B \| 2.292 \| DISEASES 8913 \| CACNA1G \| 3.416 \| DISEASES 8912 \| CACNA1H \| 6.14 \| DISEASES 8911 \| CACNA1I \| 2.834 \| DISEASES 9254 \| CACNA2D2 \| 3.586 \| DISEASES 785 \| CACNB4 \| 2.533 \| DISEASES 859 \| CAV3 \| 3.364 \| DISEASES 57126 \| CD177 \| 1.426 \| DISEASES 1059 \| CENPB \| 1.829 \| DISEASES 1137 \| CHRNA4 \| 1.762 \| DISEASES 1141 \| CHRNB2 \| 2.193 \| DISEASES 4850 \| CNOT4 \| 2.067 \| DISEASES 26047 \| CNTNAP2 \| 2.388 \| DISEASES 56259 \| CTNNBL1 \| 1.338 \| DISEASES 124454 \| EARS2 \| 2.126 \| DISEASES 114327 \| EFHC1 \| 4.678 \| DISEASES 1999 \| ELF3 \| 1.966 \| DISEASES 5169 \| ENPP3 \| 1.339 \| DISEASES 2081 \| ERN1 \| 1.596 \| DISEASES 6624 \| FSCN1 \| 1.131 \| DISEASES 2558 \| GABRA5 \| 4.904 \| DISEASES 2563 \| GABRD \| 3.675 \| DISEASES 2566 \| GABRG2 \| 6.007 \| DISEASES 2567 \| GABRG3 \| 2.823 \| DISEASES 10243 \| GPHN \| 1.953 \| DISEASES 2898 \| GRIK2 \| 1.934 \| DISEASES 2912 \| GRM2 \| 2.554 \| DISEASES 2914 \| GRM4 \| 2.973 \| DISEASES 3712 \| IVD \| 1.245 \| DISEASES 3736 \| KCNA1 \| 1.635 \| DISEASES 3766 \| KCNJ10 \| 1.554 \| DISEASES 3785 \| KCNQ2 \| 2.208 \| DISEASES 3786 \| KCNQ3 \| 3.296 \| DISEASES 10656 \| KHDRBS3 \| 2.067 \| DISEASES 9211 \| LGI1 \| 3.096 \| DISEASES 378938 \| MALAT1 \| 1.172 \| DISEASES 4200 \| ME2 \| 4.362 \| DISEASES 114614 \| MIR155HG \| 1.548 \| DISEASES 64223 \| MLST8 \| 5.391 \| DISEASES 4602 \| MYB \| 1.058 \| DISEASES 23327 \| NEDD4L \| 1.757 \| DISEASES 81614 \| NIPA2 \| 4.445 \| DISEASES 54475 \| NLE1 \| 1.684 \| DISEASES 4923 \| NTSR1 \| 1.38 \| DISEASES 5454 \| POU3F2 \| 2.006 \| DISEASES 9588 \| PRDX6 \| 1.683 \| DISEASES 112476 \| PRRT2 \| 2.411 \| DISEASES 5813 \| PURA \| 2.273 \| DISEASES 10900 \| RUNDC3A \| 3.982 \| DISEASES 6324 \| SCN1B \| 1.898 \| DISEASES 85358 \| SHANK3 \| 1.879 \| DISEASES 51629 \| SLC25A39 \| 3.897 \| DISEASES 6513 \| SLC2A1 \| 4.096 \| DISEASES 22906 \| TRAK1 \| 2.972 \| DISEASES 60684 \| TRAPPC11 \| 3.033 \| DISEASES 89910 \| UBE3B \| 2.941 \| DISEASES 7453 \| WARS \| 4.485 \| DISEASES 7514 \| XPO1 \| 1.284 \| DISEASES
Locus	Symbol \| Locus(Total Locus:6) JRK \| 8q24.3 GABRG2 \| 5q34 CACNA1H \| 16p13.3 GABRA1 \| 5q34 SLC2A1 \| 1p34.2 GABRB3 \| 15q12

Disease ID	742
Disease	childhood absence epilepsy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001250 \| Seizures \| 11 HP:0000716 \| Depression \| 4 HP:0100543 \| Cognitive deficits \| 3 HP:0002069 \| Generalized tonic clonic seizures \| 3 HP:0001249 \| Mental retardation \| 2 HP:0002133 \| Status epilepticus \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0002888 \| Ependymoma \| 1 HP:0002373 \| Febrile convulsions \| 1 HP:0011972 \| Decreased CSF glucose \| 1 HP:0002356 \| Writer's cramp \| 1 HP:0002883 \| Rapid breathing \| 1 HP:0001332 \| Dystonia \| 1 HP:0002121 \| Petit mal seizures \| 1

Disease ID	742
Disease	childhood absence epilepsy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0494475 \| generalized tonic-clonic seizures C0014553 \| absence seizures
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0036572 \| seizures \| 3 C0234428 \| impaired consciousness \| 1 C0494475 \| generalized tonic-clonic seizures \| 1

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

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

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909673	21930603	2566	GABRG2	umls:C0014553	BeFree	The R46W mutation is located in a region homologous to a GABA(A) receptor γ2 subunit missense mutation, R82Q, that is associated with CAE and febrile seizures in humans.	0.125438769	2011	GABRG2	5	162093965	G	A
rs137852779	NA	114327	EFHC1	umls:C0014553	CLINVAR	NA	0.240814326	NA	EFHC1	6	52438538	A	G
rs137852780	NA	114327	EFHC1	umls:C0014553	CLINVAR	NA	0.240814326	NA	EFHC1	6	52454147	G	A
rs4906902	17215107	27319	BHLHE22	umls:C0014553	BeFree	Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE).	0.000814326	2007	GABRB3	15	26774621	A	G
rs4906902	17215107	2562	GABRB3	umls:C0014553	BeFree	Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE.	0.133168625	2007	GABRB3	15	26774621	A	G
rs71651682	22303015	2562	GABRB3	umls:C0014553	BeFree	GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.	0.133168625	2012	GABRB3	15	26772759	C	T

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	742
Disease	childhood absence epilepsy
Case	(Waiting for update.)

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