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Details
Link-It Detail - Disease - Gilbert Disease
Debug Stats
  • ### Total Build Time: 135 ms 29.924 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 290 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=9 ms Completed: 9 ms rowSize= 566 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 2.858 KB
  • CONCEPT_RELATIONSHIPS gt=99 ms Completed: 99 ms rowSize= 10.887 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 13.600 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Gilbert Disease C0017551
Gilbert Disease (disorder)
Definition (1)
An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hyperbilirubinemia, Hereditary C0020435
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hyperbilirubinemia, Hereditary C0020435
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Hyperbilirubinemia, Hereditary C0020435
Relationships (24)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 14
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 12
associated_​with : 2
clinically_​similar : 1
manifestation_​of : 8
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN54img genetic aspects C0017399
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_CHEM36img Glucuronosyltransferase C0041560
DISO_to_CHEM34img Glucuronosyltransferase C0041560
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_ANAT18img In Blood C0005768
DISO_to_ANAT14img In Blood C0005768
DISO_to_DISO12img Hyperbilirubinemia C0020433
DISO_to_CHEM11img Bilirubin C0005437
DISO_to_DISO8img Hyperbilirubinemia C0020433
DISO_to_PHYS8img Mutation C0026882
DISO_to_PHYS8img Polymorphism, Genetic C0032529
DISO_to_CHEMassociated_withimg Indirect reacting bilirubin C0301719
DISO_to_DISOmanifestation_ofimg Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1A1, 191740.0010) C2675157
DISO_to_DISOmanifestation_ofimg Common (up to 7% of the population) C1840442
DISO_to_DISOmanifestation_ofimg Decreased bilirubin concentration with phenobarbital administration C1847499
DISO_to_DISOmanifestation_ofimg Decreased hepatic UDP-glucuronyl-transferase activity C1840439
DISO_to_DISOmanifestation_ofimg Does not lead to hepatic failure C2675158
DISO_to_DISOclinically_similarimg Gilbert Disease C0017551
DISO_to_DISOused_forimg Hereditary Hyperbilirubinemia C0020435
DISO_to_DISOmanifestation_ofimg Hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration) C3276935
DISO_to_DISOmanifestation_ofimg Liver function tests normal C0438235
DISO_to_DISOassociated_withimg Neonatal jaundice with Gilbert syndrome C0410976
DISO_to_DISOmanifestation_ofimg Rarely produces clinical jaundice C1840443
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanUGT1A154658UDP glucuronosyltransferase 1 family, polypeptide A1
img GENERIF, Score=1000, Pubmed Id: 18343383, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 15049432, UMLKSK CUI: C0017551
img GENERIF, Score=1000, Pubmed Id: 17850628, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 11764096, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 11141380, UMLKSK CUI: C0017551
img GENERIF, Score=1000, Pubmed Id: 18491077, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 12078936, UMLKSK CUI: C0017551
img GENERIF, Score=1000, Pubmed Id: 14647407, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 12732365, UMLKSK CUI: C0017551
img GENERIF, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551
img GAD, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551
img OMIM, Score=1000, UMLKSK CUI: C0017551
HumanUGT1A654578UDP glucuronosyltransferase 1 family, polypeptide A6
img GAD, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551
HumanUGT1A754577UDP glucuronosyltransferase 1 family, polypeptide A7
img GENERIF, Score=1000, Pubmed Id: 18349289, UMLKSK CUI: C0017551
img GENERIF, Score=1000, Pubmed Id: 17850628, UMLKSK CUI: C0017551
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017551Gilbert Disease0self