UNG wt Allele - CISMeF

Preferred Label : UNG wt Allele;

NCIt synonyms : HIGM4; HIGM5; UNG15; DGU; UDG; Uracil DNA Glycosylase wt Allele; UNG1; UNG2; Uracil-DNA Glycosylase Gene; DNA Glycosylase, Uracil Gene;

NCIt definition : Human UNG wild-type allele is located within 12q23-q24.1 and is approximately 13 kb in length. This allele, which encodes uracil-DNA glycosylase protein, is involved in the removal of uracil from DNA.;

GenBank Accession Number : A64377;

Details

Origin ID

C106307;

UMLS CUI

C3811713;

Automatic exact mappings (from CISMeF team)
- Cyclin o [OMIM gene]
- Hyper-IgM syndrome type 4 [ORDO Disease]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 4 [OMIM Phenotype]
- Immunodeficiency with hyper-igm, type 5 [OMIM Phenotype]
- Uracil-dna glycosylase [OMIM gene]
- cyclin O [ORDO Gene]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
- immunodeficiency with hyper IgM type 5 [DO Concept]
- immunodeficiency with hyper-IgM type 4 [DO Concept]
- uracil DNA glycosylase [ORDO Gene]
OMIM relation
- Uracil-dna glycosylase [OMIM gene]
See also inter- (CISMeF)
- Hyper-IgM syndrome due to uracil N glycosylase [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q23-q24.1 [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
gene_plays_role_in_process
- Base Excision Repair [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Immunoglobulin Gene Rearrangement Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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