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Details
Link-It Detail - Disease - Aortic Valve Stenosis
Debug Stats
  • ### Total Build Time: 42 ms 40.061 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 364 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 1,005 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1,014 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.786 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 14.261 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 18.988 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aortic Valve Stenosis C0003507
Definition (1)
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Ventricular Outflow Obstruction C0042512
img Heart Valve Diseases C0018824
Children (2)
img Aortic Stenosis, Supravalvular C0003499
img Aortic Stenosis, Subvalvular C0003500
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Ventricular Outflow Obstruction C0042512
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Valve Diseases C0018824
Relationships (104)

Relation Types:
diso_​to_​anat : 20
diso_​to_​chem : 9
diso_​to_​diso : 63
diso_​to_​phen : 3
diso_​to_​phys : 9


Relationships:
none : 83
associated_​with : 1
classified_​as : 1
clinically_​similar : 3
isa : 11
location_​of : 1
mapped_​to : 2
parent_​is_​cdrh : 1
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT797img Aortic Valve C0003501
DISO_to_DISO480img Complication Aspects C1171258
DISO_to_DISO322img Complication Aspects C1171258
DISO_to_ANAT280img Aortic Valve C0003501
DISO_to_DISO241img Aortic Valve Insufficiency C0003504
DISO_to_DISO209img Calcinosis C0006663
DISO_to_DISO143img Aortic Valve Insufficiency C0003504
DISO_to_DISO136img Calcinosis C0006663
DISO_to_ANAT109img In Blood C0005768
DISO_to_DISO95img DYSFUNCTION, LEFT VENTRICULAR C0242698
DISO_to_ANAT81img Aorta C0003483
DISO_to_DISO74img COMPL POSTOP C0032787
DISO_to_DISO73img Hypertrophy, Left Ventricular C0149721
DISO_to_PHYS70img Left Ventricular Function C0080310
DISO_to_PHEN67img Failure, Prosthesis C0033586
DISO_to_DISO64img Mitral Valve Insufficiency C0026266
DISO_to_ANAT60img Heart Ventricle C0018827
DISO_to_DISO58img Coronary Artery Disease C1956346
DISO_to_PHYS58img Stroke Volume C0038455
DISO_to_PHYS57img Hemodynamics C0019010
DISO_to_DISO53img Hypertrophy, Left Ventricular C0149721
DISO_to_ANAT50img In Blood C0005768
DISO_to_CHEM50img Hydroxymethylglutaryl-CoA Reductase Inhibitors C0360714
DISO_to_DISO49img Mitral Valve Stenosis C0026269
DISO_to_ANAT48img Aorta, Thoracic C1522460
Genes (108)

Species:
human : 108
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0003507
HumanTRIM50135892tripartite motif containing 50
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanMUC1694025mucin 16, cell surface associated
img GENERIF, Score=1000, Pubmed Id: 17662495, UMLKSK CUI: C0003507
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanMYLK285366myosin light chain kinase 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0003507
HumanGTF2IRD284163GTF2I repeat domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanOBSCN84033obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanC20orf779133
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanACE259272angiotensin I converting enzyme 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanJPH257158junctophilin 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanMRPS2256945mitochondrial ribosomal protein S22
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanNSUN555695NOP2/Sun domain family, member 5
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanMYOZ251778myozenin 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanUQCRQ27089ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanMLYCD23417malonyl-CoA decarboxylase
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanFBLN510516fibulin 5
INFERRED, Score=800, UMLKSK CUI: C0003507
HumanSCO29997SCO2 cytochrome c oxidase assembly protein
INFERRED, Score=800, UMLKSK CUI: C0003507
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003507Aortic Valve Stenosis0self