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Details
Link-It Detail - Disease - Romano-Ward Syndrome
Debug Stats
  • ### Total Build Time: 27 ms 24.792 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 11.271 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 5.573 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Romano-Ward Syndrome C0035828
Definition (1)
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Long QT Syndrome C0023976
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Long QT Syndrome C0023976
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430505img Long QT Syndrome C0023976
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Long QT Syndrome C0023976
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306605img Long QT Syndrome C0023976
Relationships (24)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 1
diso_​to_​diso : 14
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 5
alias_​of : 1
associated_​with : 1
is_​associated_​anatomic_​site_​of : 4
manifestation_​of : 11
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_CHEM17img KCNQ 001 POTASSIUM CHANNEL C0531002
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_PHYS7img Missense Mutation C0599155
DISO_to_PHYS7img Mutation C0026882
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_DISOmanifestation_ofimg Association of cardiac events with exercise C1859065
DISO_to_DISOmanifestation_ofimg Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 192500.0001) C1860468
DISO_to_DISOmanifestation_ofimg Death, Sudden, Cardiac C0085298
DISO_to_DISOmanifestation_ofimg GEI (gene-environment interaction) - association of cardiac events with drug administration C1859068
DISO_to_DISOmanifestation_ofimg Hearing normal C0234725
DISO_to_DISOassociated_withimg Jervell-Lange Nielsen Syndrome C0022387
DISO_to_DISOrelated_toimg LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO C1843738
DISO_to_DISOrelated_toimg LONG QT SYNDROME 1/2, DIGENIC (disorder) C3277700
DISO_to_DISOmanifestation_ofimg Patients with a more severe phenotype have been reported with mutations in more than 1 LQTS-related gene C1860470
DISO_to_DISOmanifestation_ofimg Prolong QT interval on EKG C0743431
DISO_to_DISOalias_ofimg Romano-Ward Syndrome C0035828
DISO_to_DISOmanifestation_ofimg Syncope C0039070
DISO_to_DISOmanifestation_ofimg Torsades de Pointes C0040479
DISO_to_DISOmanifestation_ofimg Ventricular Fibrillation C0042510
DISO_to_PHYSmanifestation_ofimg GENET HETEROGENEITY C0242960
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanKCNE29992potassium voltage-gated channel, Isk-related family, member 2
img OMIM, Score=1000, UMLKSK CUI: C0035828
HumanKCNQ13784potassium voltage-gated channel, KQT-like subfamily, member 1
img GENERIF, Score=1000, Pubmed Id: 15511625, UMLKSK CUI: C0035828
img GENERIF, Score=933, Pubmed Id: 18308161, UMLKSK CUI: C0035828
img OMIM, Score=1000, UMLKSK CUI: C0035828
img GENERIF, Score=923, Pubmed Id: 18400097, UMLKSK CUI: C0035828
HumanKCNH23757potassium voltage-gated channel, subfamily H (eag-related), member 2
img GENERIF, Score=1000, Pubmed Id: 17560885, UMLKSK CUI: C0035828
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0035828Romano-Ward Syndrome0self