MBD4 wt Allele

Preferred Label : MBD4 wt Allele;

NCIt synonyms : MED1; Methyl-CpG Binding Domain Protein 4 wt Allele;

NCIt definition : Human MBD4 wild-type allele is located in the vicinity of 3q21.3 and is approximately 9 kb in length. This allele, which encodes methyl-CpG-binding domain protein 4, plays a role in DNA mismatch repair.;

GenBank Accession Number : AF072250;

Details

Origin ID

C106164;

UMLS CUI

C3812251;

Automatic exact mappings (from CISMeF team)
- Mediator complex subunit 1 [OMIM gene]
- Methyl-cpg-binding domain protein 4 [OMIM gene]
- Multiple epiphyseal dysplasia type 1 [ORDO Disease]
- multiple epiphyseal dysplasia 1 [DO Concept]
OMIM relation
- Methyl-cpg-binding domain protein 4 [OMIM gene]
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_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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