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Details
Link-It Detail - Disease - Hypoalphalipoproteinemias
Debug Stats
  • ### Total Build Time: 77 ms 20.764 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 428 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=2 ms Completed: 2 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= 556 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 1,006 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.839 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 3.936 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 10.336 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypoalphalipoproteinemias C0473527
Definition (1)
Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hypolipoproteinemias C0020623
Children (2)
img Lecithin Acyltransferase Deficiency C0023195
img Tangier Disease C0039292
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hypolipoproteinemias C0020623
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hypolipoproteinemias C0020623
Relationships (6)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 3
diso_​to_​phen : 1


Relationships:
none : 3
isa : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_ANAT8img In Blood C0005768
DISO_to_CHEM8img Cholesterol, HDL C0023822
DISO_to_DISOmapped_toimg Familial HDL deficiency C2931838
DISO_to_DISOpermuted_term_ofimg Hypoalphalipoproteinemias C0473527
DISO_to_DISOisaimg Lecithin Acyltransferase Deficiency C0023195
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanTERT7015telomerase reverse transcriptase
INFERRED, Score=800, UMLKSK CUI: C0473527
HumanLCAT3931lecithin-cholesterol acyltransferase
img GAD, Score=1000, Pubmed Id: 12048121, UMLKSK CUI: C0473527
img GENERIF, Score=694, Pubmed Id: 12048121, UMLKSK CUI: C0473527
img OMIM, Score=1000, UMLKSK CUI: C0473527
img GAD, Score=1000, Pubmed Id: 16115486, UMLKSK CUI: C0473527
HumanGBA2629glucosidase, beta, acid
img GENERIF, Score=694, Pubmed Id: 12048121, UMLKSK CUI: C0473527
HumanCRP1401C-reactive protein, pentraxin-related
img GENERIF, Score=1000, Pubmed Id: 12701054, UMLKSK CUI: C0473527
HumanAPOC3345apolipoprotein C-III
img GAD, Score=1000, Pubmed Id: 12048121, UMLKSK CUI: C0473527
HumanAPOA1335apolipoprotein A-I
img GENERIF, Score=694, Pubmed Id: 12048121, UMLKSK CUI: C0473527
img GAD, Score=1000, Pubmed Id: 12048121, UMLKSK CUI: C0473527
HumanABCD1215ATP-binding cassette, sub-family D (ALD), member 1
INFERRED, Score=800, UMLKSK CUI: C0473527
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
INFERRED, Score=800, UMLKSK CUI: C0473527
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0473527Hypoalphalipoproteinemias0self