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Details
Link-It Detail - Disease - Idiopathic generalized epilepsy
Debug Stats
  • ### Total Build Time: 19 ms 26.199 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 9.926 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 14.687 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Idiopathic generalized epilepsy C0270850
Relationships (22)

Relation Types:
diso_​to_​diso : 22


Relationships:
clinically_​similar : 1
expanded_​form_​of : 1
isa : 5
manifestation_​of : 13
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Absence Epilepsy C0014553
DISO_to_DISOisaimg Adolescent Myoclonic Epilepsies C0270853
DISO_to_DISOisaimg Benign Infantile Myoclonic Epilepsy C0751120
DISO_to_DISOmanifestation_ofimg Benign neonatal familial convulsions (see 601764, 121200, 121201, and 269720) C1833493
DISO_to_DISOmanifestation_ofimg Childhood absence epilepsy (ECA1 600131, ECA2 607681, ECA3 607682) C1833494
DISO_to_DISOmanifestation_ofimg Comprises several subtypes, including C1833492
DISO_to_DISOmanifestation_ofimg Disorder, Myoclonic Seizure C0014550
DISO_to_DISOmanifestation_ofimg EEG shows generalized, bilateral, synchronous, symmetrical discharge C1833489
DISO_to_DISOmanifestation_ofimg EEG shows spike and multispike waves, 3-4 Hz C1833490
DISO_to_DISOrelated_toimg EIG1 C2748799
DISO_to_DISOclinically_similarimg EPILEPSY IDIOPATHIC GRAND MAL C0518995
DISO_to_DISOrelated_toimg EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8 C2748800
DISO_to_DISOisaimg Early Childhood Epilepsy, Myoclonic C0393695
DISO_to_DISOmanifestation_ofimg Epilepsy with grand mal seizures on awakening (EGMA, 607628) C1833497
DISO_to_DISOisaimg Epilepsy with grand mal seizures on awakening (disorder) C0393697
DISO_to_DISOmanifestation_ofimg Generalized seizures, recurrent C1833488
DISO_to_DISOmanifestation_ofimg Homozygous 9-SNP haplotype in the promoter and coding region of malic enzyme 2 (ME2, 154270.0001) increases risk for IGE (odds ratio 6.1 with 95% confidence interval 2.9-12.7) C1833498
DISO_to_DISOexpanded_form_ofimg Idiopathic generalized epilepsy C0270850
DISO_to_DISOmanifestation_ofimg Juvenile absence epilepsy (JAE, 607631) C1833495
DISO_to_DISOmanifestation_ofimg Juvenile myoclonic epilepsy (JME, 606904) C3152042
DISO_to_DISOmanifestation_ofimg Susceptibility conferred by 9-SNP haplotype in malic enzyme 2 (ME2, 154270.0001) C1833491
DISO_to_DISOmanifestation_ofimg Tonic - clonic seizures C0494475
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanHCN1348980hyperpolarization activated cyclic nucleotide-gated potassium channel 1
img GENERIF, Score=717, Pubmed Id: 17931874, UMLKSK CUI: C0270850
HumanKCNMB327094potassium large conductance calcium-activated channel, subfamily M beta member 3
img GENERIF, Score=1000, Pubmed Id: 16958040, UMLKSK CUI: C0270850
HumanCACNA1G8913calcium channel, voltage-dependent, T type, alpha 1G subunit
img GENERIF, Score=756, Pubmed Id: 17397049, UMLKSK CUI: C0270850
HumanCACNA1H8912calcium channel, voltage-dependent, T type, alpha 1H subunit
img GENERIF, Score=923, Pubmed Id: 15852375, UMLKSK CUI: C0270850
HumanSCN2A6326sodium channel, voltage-gated, type II, alpha subunit
img GENERIF, Score=717, Pubmed Id: 17715289, UMLKSK CUI: C0270850
HumanOPRM14988opioid receptor, mu 1
img GENERIF, Score=1000, Pubmed Id: 12221164, UMLKSK CUI: C0270850
HumanHP3240haptoglobin
img GENERIF, Score=1000, Pubmed Id: 15490286, UMLKSK CUI: C0270850
HumanGAD22572glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
img GENERIF, Score=1000, Pubmed Id: 17167787, UMLKSK CUI: C0270850
HumanGABRG22566gamma-aminobutyric acid (GABA) A receptor, gamma 2
img GENERIF, Score=988, Pubmed Id: 17162195, UMLKSK CUI: C0270850
HumanCLCN21181chloride channel, voltage-sensitive 2
img GENERIF, Score=988, Pubmed Id: 15252188, UMLKSK CUI: C0270850
img GENERIF, Score=1000, Pubmed Id: 16932951, UMLKSK CUI: C0270850
img GENERIF, Score=1000, Pubmed Id: 15508929, UMLKSK CUI: C0270850
HumanCHRNA41137cholinergic receptor, nicotinic, alpha 4 (neuronal)
img GENERIF, Score=1000, Pubmed Id: 17385675, UMLKSK CUI: C0270850
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
img GENERIF, Score=1000, Pubmed Id: 12461694, UMLKSK CUI: C0270850
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270850Idiopathic generalized epilepsy0self