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Details
Link-It Detail - Disease - Brugada Syndrome
Debug Stats
  • ### Total Build Time: 22 ms 27.016 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 540 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 4.125 KB
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 13.212 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 6.485 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Brugada Syndrome C1142166
Definition (1)
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Arrhythmias, Cardiac C0003811
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Arrhythmias, Cardiac C0003811
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306604img Arrhythmias, Cardiac C0003811
Relationships (31)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 4
diso_​to_​diso : 18
diso_​to_​phen : 1
diso_​to_​phys : 2


Relationships:
none : 19
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 4
manifestation_​of : 5
mapped_​to : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN181img genetic aspects C0017399
DISO_to_DISO148img Complication Aspects C1171258
DISO_to_CHEM90img Sodium Channel C0037492
DISO_to_DISO75img Ventricular Fibrillation C0042510
DISO_to_ANAT63img Cardiac conduction system C0018796
DISO_to_CHEM59img Muscle Protein C0026832
DISO_to_DISO58img chemically induced C0007994
DISO_to_DISO55img Tachycardia, Ventricular C0042514
DISO_to_DISO46img Death, Sudden, Cardiac C0085298
DISO_to_CHEM34img Anti-Arrhythmia Agents C0003195
DISO_to_DISO33img Long QT Syndrome C0023976
DISO_to_PHYS31img Mutation C0026882
DISO_to_DISO26img Arrhythmias, Cardiac C0003811
DISO_to_DISO25img Atrial Fibrillation C0004238
DISO_to_DISO23img Fever C0015967
DISO_to_PHYS19img Missense Mutation C0599155
DISO_to_ANAT16img Heart Ventricle C0018827
DISO_to_CHEM14img AJMALINE C0001888
DISO_to_DISO14img Cardiac Arrest C0018790
DISO_to_ANATis_associated_anatomic_site_ofimg Cardiovascular System C0007226
DISO_to_ANATis_associated_anatomic_site_ofimg Chest C0817096
DISO_to_ANATis_associated_anatomic_site_ofimg Heart C0018787
DISO_to_ANATis_associated_anatomic_site_ofimg Respiratory System C0035237
DISO_to_DISOexpanded_form_ofimg Brugada Syndrome C1142166
DISO_to_DISOrelated_toimg CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) C2748542
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanGPD1L23171glycerol-3-phosphate dehydrogenase 1-like
img GENERIF, Score=1000, Pubmed Id: 18762705, UMLKSK CUI: C1142166
img GENERIF, Score=1000, Pubmed Id: 17967977, UMLKSK CUI: C1142166
HumanSCN5A6331sodium channel, voltage-gated, type V, alpha subunit
Click here to display 32 evidence detail records.
HumanCACNB2783calcium channel, voltage-dependent, beta 2 subunit
img GENERIF, Score=734, Pubmed Id: 17224476, UMLKSK CUI: C1142166
HumanCACNA2D1781calcium channel, voltage-dependent, alpha 2/delta subunit 1
img GENERIF, Score=734, Pubmed Id: 17224476, UMLKSK CUI: C1142166
HumanCACNA1C775calcium channel, voltage-dependent, L type, alpha 1C subunit
img GENERIF, Score=734, Pubmed Id: 17224476, UMLKSK CUI: C1142166
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1142166Brugada Syndrome0self