Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Gilbert syndrome
go back to main search page
Accession:DOID:2739 term browser browse the term
Definition:A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. (DO)
Synonyms:exact_synonym: Arias Type Hyperbilirubinemia;   Arias type hyperbilirubinemias;   Familial Nonhemolytic Jaundice;   Gilbert disease;   Gilbert's Disease;   Gilbert's Syndrome;   Gilbert-Lereboullet Syndrome;   Gilbert-Meulengracht syndrome;   Gilberts Disease;   Gilberts Syndrome;   HBLRG;   HYPERBILIRUBINEMIA, GILBERT TYPE;   Hyperbilirubinemia 1;   Hyperbilirubinemia I;   Meulengracht syndrome;   constitutional hyperbilirubinemia;   constitutional liver dysfunction;   hereditary nonhemolytic jaundice;   unconjugated benign bilirubinemia
 related_synonym: Gilbert Syndrome, Susceptibility To
 primary_id: MESH:D005878
 alt_id: OMIM:143500
 xref: EFO:0005556;   GARD:6507;   ICD10CM:E80.4;   NCI:C84729
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Gilbert syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO ClinVar Annotator: match by term: Gilbert syndrome ClinVar NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
OMIM
CTD
ClinVar
PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Pathologic Processes 7942
        bilirubin metabolic disorder 72
          Gilbert syndrome 7
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          inherited metabolic disorder 6206
            bilirubin metabolic disorder 72
              Hereditary Hyperbilirubinemia 16
                Gilbert syndrome 7
paths to the root