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Details
Link-It Detail - Disease - Hyperlipoproteinemia Type II
Debug Stats
  • ### Total Build Time: 159 ms 43.976 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 350 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= 1,006 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=47 ms Completed: 47 ms rowSize= 4.147 KB
  • CONCEPT_RELATIONSHIPS gt=64 ms Completed: 64 ms rowSize= 13.194 KB
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 23.583 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlipoproteinemia Type II C0020445
Definition (1)
A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Lipid Metabolism, Inborn Errors C0023772
img Hyperlipoproteinemias C0020476
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lipid Metabolism, Inborn Errors C0023772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lipid Metabolism, Inborn Errors C0023772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Hyperlipoproteinemias C0020476
Relationships (49)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 23
diso_​to_​diso : 20
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 33
associated_​with : 1
isa : 7
mapped_​to : 2
may_​treat : 4
permuted_​term_​of : 1
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN302img genetic aspects C0017399
DISO_to_PHEN254img genetic aspects C0017399
DISO_to_ANAT181img In Blood C0005768
DISO_to_ANAT138img In Blood C0005768
DISO_to_DISO135img Complication Aspects C1171258
DISO_to_DISO130img Complication Aspects C1171258
DISO_to_CHEM97img Low Density Lipoprotein Receptor C0034821
DISO_to_CHEM74img Low Density Lipoprotein Receptor C0034821
DISO_to_CHEM65img Agents, Anticholesteremic C0003277
DISO_to_CHEM56img Cholesterol, LDL C0023824
DISO_to_CHEM55img Hydroxymethylglutaryl-CoA Reductase Inhibitors C0360714
DISO_to_CHEM54img Hydroxymethylglutaryl-CoA Reductase Inhibitors C0360714
DISO_to_CHEM53img Agents, Anticholesteremic C0003277
DISO_to_CHEM52img Cholesterol, LDL C0023824
DISO_to_PHYS47img Mutation C0026882
DISO_to_PHYS46img Mutation C0026882
DISO_to_CHEM40img Azetidines C0004490
DISO_to_CHEM39img Lipoproteins, LDL C0023823
DISO_to_CHEM33img Acids, Heptanoic C0019227
DISO_to_CHEM33img Pyrroles C0034325
DISO_to_CHEM31img SIMVASTATIN C0074554
DISO_to_DISO31img Arteriosclerosis C0003850
DISO_to_DISO30img Coronary Artery Disease C1956346
DISO_to_CHEM29img SIMVASTATIN C0074554
DISO_to_DISO29img Atherosclerosis C0004153
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
img GENERIF, Score=734, Pubmed Id: 16183066, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 18559913, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 12730697, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 15099351, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 16211558, UMLKSK CUI: C0020445
HumanADIPOQ9370adiponectin, C1Q and collagen domain containing
img GENERIF, Score=734, Pubmed Id: 17123536, UMLKSK CUI: C0020445
HumanPON15444paraoxonase 1
img GENERIF, Score=1000, Pubmed Id: 15642273, UMLKSK CUI: C0020445
HumanNPPA4878natriuretic peptide A
img GENERIF, Score=734, Pubmed Id: 16721833, UMLKSK CUI: C0020445
HumanMTTP4547microsomal triglyceride transfer protein
img GENERIF, Score=1000, Pubmed Id: 15864113, UMLKSK CUI: C0020445
HumanMPO4353myeloperoxidase
img GENERIF, Score=901, Pubmed Id: 17875305, UMLKSK CUI: C0020445
HumanMEF2A4205myocyte enhancer factor 2A
img OMIM, Score=1000, UMLKSK CUI: C0020445
HumanLDLR3949low density lipoprotein receptor
Click here to display 27 evidence detail records.
HumanEGFR1956epidermal growth factor receptor
img GENERIF, Score=651, Pubmed Id: 15100232, UMLKSK CUI: C0020445
HumanCETP1071cholesteryl ester transfer protein, plasma
img GENERIF, Score=1000, Pubmed Id: 17848121, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 15856070, UMLKSK CUI: C0020445
HumanAPOE348apolipoprotein E
img GAD, Score=1000, Pubmed Id: 1998645, UMLKSK CUI: C0020445
HumanAPOB338apolipoprotein B
img GENERIF, Score=1000, Pubmed Id: 17566095, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 17964958, UMLKSK CUI: C0020445
img GENERIF, Score=734, Pubmed Id: 16776623, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 14967814, UMLKSK CUI: C0020445
img GENERIF, Score=923, Pubmed Id: 16596945, UMLKSK CUI: C0020445
img GENERIF, Score=1000, Pubmed Id: 17194460, UMLKSK CUI: C0020445
HumanAPOA1335apolipoprotein A-I
img GENERIF, Score=1000, Pubmed Id: 12742997, UMLKSK CUI: C0020445
HumanAGT183angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
img GENERIF, Score=1000, Pubmed Id: 18300856, UMLKSK CUI: C0020445
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
img GAD, Score=1000, Pubmed Id: 12624133, UMLKSK CUI: C0020445
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020445Hyperlipoproteinemia Type II0self