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Details
Link-It Detail - Disease - Lipid Metabolism Disorders
Debug Stats
  • ### Total Build Time: 83 ms 38.276 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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=0 Completed: 0 ms rowSize= 554 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.656 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.518 KB
  • CONCEPT_RELATIONSHIPS gt=20 ms Completed: 20 ms rowSize= 12.970 KB
  • CONCEPT_GENES gt=55 ms Completed: 55 ms rowSize= 18.576 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipid Metabolism Disorders C0154251
Definition (1)
condition in which there is a deviation or interruption in the processing of lipids in the body: synthesis, absorption, transport, storage, and utilization.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolic Diseases C0025517
Children (6)
img Lipomatosis C0023801
img Dyslipidemias C0242339
img Lipodystrophy C0023787
img Lipidoses C0023794
img Lipid Metabolism, Inborn Errors C0023772
img Xanthomatosis C0043325
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255173img Metabolic Diseases C0025517
Relationships (48)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 6
diso_​to_​diso : 36
diso_​to_​phen : 1
diso_​to_​phys : 3


Relationships:
none : 22
classified_​as : 5
classifies : 2
isa : 5
mapped_​to : 13
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_ANAT22img In Blood C0005768
DISO_to_PHYS20img Lipid Metabolism C0598783
DISO_to_CHEM11img Lipids C0023779
DISO_to_DISO11img chemically induced C0007994
DISO_to_DISO8img Muscular Diseases C0026848
DISO_to_DISO6img Glucose Metabolism Disorders C1257958
DISO_to_DISO6img Metabolic Syndrome X C0524620
DISO_to_CHEM5img Cholesterol C0008377
DISO_to_CHEM5img Fatty Acids C0015684
DISO_to_CHEM5img Hypolipidemic Agents C0086440
DISO_to_PHYS5img Mutation C0026882
DISO_to_ANAT4img Adipose Tissue C0001527
DISO_to_CHEM4img Lipase C0023764
DISO_to_CHEM4img Sphingolipids C0037900
DISO_to_DISO4img Angiogenesis, Corneal C0085109
DISO_to_DISO4img Animal Disease Models C0012644
DISO_to_DISO4img Kidney Diseases C0022658
DISO_to_DISO4img Obesity C0028754
DISO_to_DISO4img Oxidative Stress C0242606
DISO_to_PHYS4img GENET PREDISPOSITION C0314657
DISO_to_DISOmapped_toimg 6-B7 DISORDERS OF FATTY ACID METABOLISM C0268634
DISO_to_DISOisaimg Benign symmetrical lipomatosis C2931642
DISO_to_DISOmapped_toimg CACT DEFICIENCY C0342791
Genes (188)

Species:
human : 188
Page Size
Current 25
  Page 1 of 8
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCLN9497231ceroid-lipofuscinosis, neuronal 9
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanGPIHBP1338328glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanLIPI149998lipase, member I
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanCPT1C126129carnitine palmitoyltransferase 1C
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanAPOA5116519apolipoprotein A-V
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanASAM79827
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanLMF164788lipase maturation factor 1
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanABCG864241ATP-binding cassette, sub-family G (WHITE), member 8
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanABCG564240ATP-binding cassette, sub-family G (WHITE), member 5
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanSLC28A364078solute carrier family 28 (concentrative nucleoside transporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanPNPLA257104patatin-like phospholipase domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanAPOB48R55911
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanAPTX54840aprataxin
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanACSL551703acyl-CoA synthetase long-chain family member 5
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanANGPTL451129angiopoietin-like 4
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0154251
HumanSLC27A628965solute carrier family 27 (fatty acid transporter), member 6
img GENERIF, Score=902, Pubmed Id: 12556534, UMLKSK CUI: C0154251
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
INFERRED, Score=800, UMLKSK CUI: C0154251
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0154251Lipid Metabolism Disorders0self