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Details
Link-It Detail - Disease - Cardiovascular Abnormalities
Debug Stats
  • ### Total Build Time: 239 ms 37.441 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 267 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1,001 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1,003 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.438 KB
  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 13.093 KB
  • CONCEPT_GENES gt=218 ms Completed: 218 ms rowSize= 17.971 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cardiovascular Abnormalities C0243050
Definition (1)
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Cardiovascular Diseases C0007222
img Congenital Abnormalities C0000768
Children (2)
img Heart Defects, Congenital C0018798
img Vascular Malformations C0158570
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C00072222img Cardiovascular Diseases C0007222
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
Relationships (59)

Relation Types:
diso_​to_​anat : 17
diso_​to_​chem : 1
diso_​to_​diso : 39
diso_​to_​phen : 2


Relationships:
none : 39
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
isa : 15
mapped_​to : 2
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO17img Aneurysm C0002940
DISO_to_DISO17img Deglutition Disorders C0011168
DISO_to_ANAT14img Inferior vena cava structure C0042458
DISO_to_DISO14img Abnormalities, Multiple C0000772
DISO_to_DISO14img chemically induced C0007994
DISO_to_ANAT12img Aorta, Thoracic C1522460
DISO_to_DISO12img Abnormalities, Multiple C0000772
DISO_to_ANAT9img Pulmonary Veins C0034090
DISO_to_ANAT8img Aorta, Thoracic C1522460
DISO_to_ANAT8img Structure of subclavian artery C0038530
DISO_to_ANAT7img Structure of subclavian artery C0038530
DISO_to_DISO7img ABNORM DRUG IND C0000771
DISO_to_ANAT6img Heart Atria C0018792
DISO_to_ANAT6img Pulmonary Artery C0034052
DISO_to_ANAT6img Superior vena cava structure C0042459
DISO_to_DISO6img Hemangioma C0018916
DISO_to_ANAT5img Blood Vessel C0005847
DISO_to_ANAT5img Inferior vena cava structure C0042458
DISO_to_DISO5img Cardiovascular Diseases C0007222
DISO_to_DISO5img chemically induced C0007994
DISO_to_ANAT4img Aortic Valve C0003501
DISO_to_ANAT4img Cardiovascular System C0007226
Genes (158)

Species:
human : 158
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanISM2145501isthmin 2
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanNKX2-6137814
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanJAM383700junctional adhesion molecule 3
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanDNAL183544dynein, axonemal, light chain 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanTMEM4379188transmembrane protein 43
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanCRELD178987cysteine-rich with EGF-like domains 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanDNAI264446dynein, axonemal, intermediate chain 2
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanDNAH756171dynein, axonemal, heavy chain 7
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanCFC155997cripto, FRL-1, cryptic family 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanBCOR54880BCL6 corepressor
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanRAB2351715RAB23, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
INFERRED, Score=800, UMLKSK CUI: C0243050
HumanTXNDC351314
INFERRED, Score=800, UMLKSK CUI: C0243050
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0243050Cardiovascular Abnormalities0self