UGT1A1 Gene - CISMeF

Preferred Label : UGT1A1 Gene;

NCIt synonyms : UDP Glucuronosyltransferase Family 1 Member A1 Gene;

NCIt related terms : UGT1A1;

CISMeF acronym : UGT1A1;

NCIt definition : This gene is involved in controlling serum levels of bilirubin and in glucuronidation.;

Details

Origin ID

C20128;

UMLS CUI

C0537026;

HGNC gene
- UDP glucuronosyltransferase family 1 member A1 [HGNC gene]
OMIM relation
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- UDP glucuronosyltransferase family 1 member A1 [HGNC gene]
- UGT1A1 gene [LOINC component]
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- UDP-Glucuronosyltransferase 1-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- UGT1A1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Crigler-Najjar Syndrome [NCIt concept]
- Gilbert Syndrome [NCIt concept]
gene_plays_role_in_process
- Estrogen Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
genetic_biomarker_related_to
- Homozygous UGT1A1*28 Positive [NCIt concept]
- Homozygous UGT1A1*36 Positive [NCIt concept]
- Homozygous UGT1A1*37 Positive [NCIt concept]
- Homozygous UGT1A1*6 Positive [NCIt concept]
- UGT1A1 Gene Mutation Negative [NCIt concept]
- UGT1A1 Polymorphism Positive [NCIt concept]
- UGT1A1*1/*36 Positive [NCIt concept]
- UGT1A1*1/*37 Positive [NCIt concept]
- UGT1A1*28 Allele Negative [NCIt concept]
- UGT1A1*28 [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- UGT1A1*28/*37 Positive [NCIt concept]
- UGT1A1*36/*28 Positive [NCIt concept]
- UGT1A1*36/*37 Positive [NCIt concept]
- UGT1A1*6/*28 Positive [NCIt concept]

Keyword's position in hierarchy(ies) :

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