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Details
Link-It Detail - Disease - Long QT Syndrome
Debug Stats
  • ### Total Build Time: 166 ms 63.361 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 646 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 999 bytes
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 1.408 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 6.691 KB
  • CONCEPT_RELATIONSHIPS gt=95 ms Completed: 95 ms rowSize= 13.633 KB
  • CONCEPT_GENES gt=34 ms Completed: 34 ms rowSize= 38.339 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Long QT Syndrome C0023976
Definition (1)
A ventricular arrhythmia characterized by syncopal episodes and a long QT interval, sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. (NCI)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Arrhythmias, Cardiac C0003811
img Heart Defects, Congenital C0018798
Children (3)
img Jervell-Lange Nielsen Syndrome C0022387
img Romano-Ward Syndrome C0035828
img Andersen Syndrome C1563715
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Arrhythmias, Cardiac C0003811
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Arrhythmias, Cardiac C0003811
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Heart Defects, Congenital C0018798
Relationships (88)

Relation Types:
diso_​to_​anat : 14
diso_​to_​chem : 32
diso_​to_​diso : 29
diso_​to_​phen : 2
diso_​to_​phys : 11


Relationships:
none : 75
expanded_​form_​of : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 5
isa : 2
mapped_​to : 4
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN466img genetic aspects C0017399
DISO_to_DISO444img chemically induced C0007994
DISO_to_DISO381img chemically induced C0007994
DISO_to_PHEN348img genetic aspects C0017399
DISO_to_DISO182img Torsades de Pointes C0040479
DISO_to_DISO176img Complication Aspects C1171258
DISO_to_DISO143img Complication Aspects C1171258
DISO_to_DISO137img Torsades de Pointes C0040479
DISO_to_CHEM128img Potassium Channels, Voltage-Gated C0814023
DISO_to_CHEM113img ERG Potassium Channels C1563386
DISO_to_CHEM113img Ether-A-Go-Go Potassium Channels C1563386
DISO_to_CHEM77img Potassium Channel C0032824
DISO_to_CHEM77img Potassium Channels C0032824
DISO_to_CHEM76img Anti-Arrhythmia Agents C0003195
DISO_to_CHEM76img Sodium Channel C0037492
DISO_to_CHEM76img Sodium Channels C0037492
DISO_to_PHYS76img Heart Rate C0018810
DISO_to_DISO72img Death, Sudden, Cardiac C0085298
DISO_to_PHYS69img Mutation C0026882
DISO_to_CHEM64img ANTIPSYCHOTICS C0040615
DISO_to_DISO64img Arrhythmias, Cardiac C0003811
DISO_to_CHEM61img Sodium Channel C0037492
DISO_to_ANAT60img Heart Conduction System C0018796
DISO_to_CHEM59img Anti-Arrhythmia Agents C0003195
DISO_to_CHEM58img KCNQ 001 POTASSIUM CHANNEL C0531002
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C0023976
HumanAKAP910142A kinase (PRKA) anchor protein (yotiao) 9
img GENERIF, Score=1000, Pubmed Id: 18093912, UMLKSK CUI: C0023976
HumanKCNE29992potassium voltage-gated channel, Isk-related family, member 2
img GAD, Score=1000, Pubmed Id: 11289718, UMLKSK CUI: C0023976
HumanSNTA16640syntrophin, alpha 1
img GENERIF, Score=694, Pubmed Id: 18591664, UMLKSK CUI: C0023976
HumanSCN5A6331sodium channel, voltage-gated, type V, alpha subunit
img GAD, Score=1000, Pubmed Id: 11289718, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11743032, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 18245395, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11136691, UMLKSK CUI: C0023976
img GENERIF, Score=923, Pubmed Id: 12574983, UMLKSK CUI: C0023976
img GENERIF, Score=845, Pubmed Id: 16301357, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11997281, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 12849668, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 18065446, UMLKSK CUI: C0023976
img GAD, Score=833, Pubmed Id: 7889574, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 14654377, UMLKSK CUI: C0023976
img GENERIF, Score=884, Pubmed Id: 12208804, UMLKSK CUI: C0023976
img GAD, Score=862, Pubmed Id: 12208804, UMLKSK CUI: C0023976
img GENERIF, Score=923, Pubmed Id: 12820704, UMLKSK CUI: C0023976
img GENERIF, Score=884, Pubmed Id: 18451998, UMLKSK CUI: C0023976
HumanSCN4B6330sodium channel, voltage-gated, type IV, beta subunit
img GENERIF, Score=694, Pubmed Id: 17592081, UMLKSK CUI: C0023976
HumanRYR26262ryanodine receptor 2 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 15466642, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 16188589, UMLKSK CUI: C0023976
img GENERIF, Score=679, Pubmed Id: 16188589, UMLKSK CUI: C0023976
HumanKCNQ13784potassium voltage-gated channel, KQT-like subfamily, member 1
Click here to display 25 evidence detail records.
HumanKCNJ123768potassium inwardly-rectifying channel, subfamily J, member 12
INFERRED, Score=800, UMLKSK CUI: C0023976
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
INFERRED, Score=800, UMLKSK CUI: C0023976
HumanKCNH23757potassium voltage-gated channel, subfamily H (eag-related), member 2
img GENERIF, Score=1000, Pubmed Id: 18599551, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11997281, UMLKSK CUI: C0023976
img GENERIF, Score=717, Pubmed Id: 16253915, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 12442276, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 18774102, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11743032, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 17171344, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 12402336, UMLKSK CUI: C0023976
img GENERIF, Score=1000, Pubmed Id: 14714110, UMLKSK CUI: C0023976
img GENERIF, Score=717, Pubmed Id: 12885765, UMLKSK CUI: C0023976
HumanKCNE13753potassium voltage-gated channel, Isk-related family, member 1
img GENERIF, Score=923, Pubmed Id: 16266404, UMLKSK CUI: C0023976
img GAD, Score=1000, Pubmed Id: 11289718, UMLKSK CUI: C0023976
HumanKCND33752potassium voltage-gated channel, Shal-related subfamily, member 3
img GENERIF, Score=1000, Pubmed Id: 15563876, UMLKSK CUI: C0023976
HumanKCND23751potassium voltage-gated channel, Shal-related subfamily, member 2
img GENERIF, Score=1000, Pubmed Id: 15563876, UMLKSK CUI: C0023976
HumanCAV3859caveolin 3
img GENERIF, Score=1000, Pubmed Id: 17060380, UMLKSK CUI: C0023976
HumanAR367androgen receptor
img GENERIF, Score=1000, Pubmed Id: 18599551, UMLKSK CUI: C0023976
HumanANK2287ankyrin 2, neuronal
img GENERIF, Score=884, Pubmed Id: 16864073, UMLKSK CUI: C0023976
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023976Long QT Syndrome0self