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Details
Link-It Detail - Disease - CBG DEFICIENCY
Debug Stats
  • ### Total Build Time: 90 ms 9.294 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=62 ms Completed: 62 ms rowSize= 6.060 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 1.697 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CBG DEFICIENCY C1852529
Relationships (13)

Relation Types:
diso_​to_​diso : 12
diso_​to_​phys : 1


Relationships:
alias_​of : 1
manifestation_​of : 11
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg CBG DEFICIENCY C1852529
DISO_to_DISOrelated_toimg CORTICOSTEROID-BINDING GLOBULIN, ELEVATED C1969107
DISO_to_DISOmanifestation_ofimg Caused by mutation in the serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6, 122500.0001) C2674349
DISO_to_DISOmanifestation_ofimg Decreased cortisol-binding globulin C2674347
DISO_to_DISOmanifestation_ofimg Decreased serum cortisol C0241002
DISO_to_DISOmanifestation_ofimg GENERALIZED FATIGUE C0241898
DISO_to_DISOmanifestation_ofimg Hypertension C0020538
DISO_to_DISOmanifestation_ofimg Hypotension C0020649
DISO_to_DISOmanifestation_ofimg Many patients are asymptomatic C2674350
DISO_to_DISOmanifestation_ofimg Normal ACTH C0858293
DISO_to_DISOmanifestation_ofimg Normal free urinary cortisol C2674348
DISO_to_DISOmanifestation_ofimg Variable phenotype C1837514
DISO_to_PHYSmanifestation_ofimg Fatigue, Muscle C0242979
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSERPINA6866serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
img GENERIF, Score=1000, Pubmed Id: 17245537, UMLKSK CUI: C1852529
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1852529CBG DEFICIENCY0self