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Details
Link-It Detail - Disease - Hyperlipidemia, Familial Combined
Debug Stats
  • ### Total Build Time: 116 ms 52.581 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 364 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 436 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=14 ms Completed: 14 ms rowSize= 1,000 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.142 KB
  • CONCEPT_RELATIONSHIPS gt=62 ms Completed: 62 ms rowSize= 12.739 KB
  • CONCEPT_GENES gt=30 ms Completed: 30 ms rowSize= 32.557 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlipidemia, Familial Combined C0020474
Definition (1)
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hyperlipidemias C0020473
img Lipid Metabolism, Inborn Errors C0023772
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hyperlipidemias C0020473
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
Relationships (34)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 10
diso_​to_​diso : 20
diso_​to_​phen : 2


Relationships:
none : 17
classifies : 1
isa : 2
mapped_​to : 13
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT69img In Blood C0005768
DISO_to_PHEN58img genetic aspects C0017399
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_ANAT46img In Blood C0005768
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_DISO17img Complication Aspects C1171258
DISO_to_CHEM14img Hypolipidemic Agents C0086440
DISO_to_CHEM13img Apolipoproteins B C0003593
DISO_to_CHEM13img Heptanoic Acids C0019227
DISO_to_CHEM13img Pyrroles C0034325
DISO_to_CHEM12img Lipoproteins, LDL C0023823
DISO_to_CHEM10img Fenofibrate C0033228
DISO_to_CHEM10img Hydroxymethylglutaryl-CoA Reductase Inhibitors C0360714
DISO_to_CHEM10img Triglycerides C0041004
DISO_to_CHEM9img Agents, Anticholesteremic C0003277
DISO_to_CHEM8img Lipoproteins C0023820
DISO_to_DISO8img Cardiovascular Diseases C0007222
DISO_to_DISOmapped_toimg Atypical xanthoma disseminatum C1275338
DISO_to_DISOmapped_toimg Cutaneous Verruciform Xanthoma C0346054
DISO_to_DISOmapped_toimg Cutaneous xanthoma C1304249
DISO_to_DISOclassifiesimg Disease of lipid metabolism C0154251
DISO_to_DISOmapped_toimg Eruptive xanthoma C0221252
DISO_to_DISOmapped_toimg Generalised plane xanthoma C0473568
DISO_to_DISOpermuted_term_ofimg Hyperlipidemia, Familial Combined C0020474
DISO_to_DISOmapped_toimg Hyperlipoproteinemia Type III C0020479
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanAPOA5116519apolipoprotein A-V
img GENERIF, Score=1000, Pubmed Id: 17157483, UMLKSK CUI: C0020474
HumanTXNIP10628thioredoxin interacting protein
img GENERIF, Score=1000, Pubmed Id: 15136067, UMLKSK CUI: C0020474
HumanADIPOQ9370adiponectin, C1Q and collagen domain containing
img GENERIF, Score=1000, Pubmed Id: 18762168, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 16106049, UMLKSK CUI: C0020474
HumanLZTR18216leucine-zipper-like transcription regulator 1
img GENERIF, Score=1000, Pubmed Id: 17972059, UMLKSK CUI: C0020474
HumanUSF17391upstream transcription factor 1
img GENERIF, Score=1000, Pubmed Id: 14991056, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 15976322, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 16076849, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 16531745, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 15959806, UMLKSK CUI: C0020474
HumanSCD6319stearoyl-CoA desaturase (delta-9-desaturase)
img GENERIF, Score=1000, Pubmed Id: 18340007, UMLKSK CUI: C0020474
HumanRXRG6258retinoid X receptor, gamma
img GENERIF, Score=1000, Pubmed Id: 17272748, UMLKSK CUI: C0020474
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img GENERIF, Score=1000, Pubmed Id: 14680975, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 11979403, UMLKSK CUI: C0020474
HumanPPARA5465peroxisome proliferator-activated receptor alpha
img GENERIF, Score=756, Pubmed Id: 12468272, UMLKSK CUI: C0020474
HumanPON15444paraoxonase 1
img GENERIF, Score=1000, Pubmed Id: 18096166, UMLKSK CUI: C0020474
HumanSERPINE15054serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
img GENERIF, Score=1000, Pubmed Id: 18262228, UMLKSK CUI: C0020474
HumanLPL4023lipoprotein lipase
img GENERIF, Score=1000, Pubmed Id: 12370850, UMLKSK CUI: C0020474
img GAD, Score=1000, Pubmed Id: 12915220, UMLKSK CUI: C0020474
HumanIRS13667insulin receptor substrate 1
img GENERIF, Score=1000, Pubmed Id: 12370850, UMLKSK CUI: C0020474
HumanFN12335fibronectin 1
img GENERIF, Score=756, Pubmed Id: 12401883, UMLKSK CUI: C0020474
HumanFABP22169fatty acid binding protein 2, intestinal
img GENERIF, Score=1000, Pubmed Id: 12370850, UMLKSK CUI: C0020474
HumanCD36948CD36 molecule (thrombospondin receptor)
img GENERIF, Score=1000, Pubmed Id: 16219805, UMLKSK CUI: C0020474
HumanC3718complement component 3
img GENERIF, Score=756, Pubmed Id: 12006395, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 11979403, UMLKSK CUI: C0020474
HumanAPOE348apolipoprotein E
img GENERIF, Score=1000, Pubmed Id: 18262228, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 17127808, UMLKSK CUI: C0020474
img GAD, Score=1000, Pubmed Id: 12915220, UMLKSK CUI: C0020474
img GENERIF, Score=1000, Pubmed Id: 17848837, UMLKSK CUI: C0020474
HumanAPOB338apolipoprotein B
img GENERIF, Score=1000, Pubmed Id: 17698072, UMLKSK CUI: C0020474
HumanAPOA2336apolipoprotein A-II
img GENERIF, Score=1000, Pubmed Id: 12738753, UMLKSK CUI: C0020474
HumanAPOA1335apolipoprotein A-I
img GENERIF, Score=1000, Pubmed Id: 17698072, UMLKSK CUI: C0020474
HumanADRB3155adrenoceptor beta 3
img GENERIF, Score=1000, Pubmed Id: 12370850, UMLKSK CUI: C0020474
HumanADD1118adducin 1 (alpha)
img GAD, Score=1000, Pubmed Id: 11775124, UMLKSK CUI: C0020474
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020474Hyperlipidemia, Familial Combined0self