KBTBD4 Gene - CISMeF

Preferred Label : KBTBD4 Gene;

NCIt synonyms : Kelch Repeat and BTB Domain Containing 4 Gene; KBTBD4;

NCIt definition : This gene may be involved in the assembly of cullin-3-containing E3 ubiquitin-transferase complexes.;

Details

Origin ID

C186678;

UMLS CUI

C1428245;

Automatic exact mappings (from CISMeF team)
- Kelch repeat- and btb/poz domain-containing protein 4 [OMIM gene]
HGNC gene
- kelch repeat and BTB domain containing 4 [HGNC gene]
OMIM relation
- Kelch repeat- and btb/poz domain-containing protein 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Kelch repeat- and btb/poz domain-containing protein 4 [OMIM gene]
- kelch repeat and BTB domain containing 4 [HGNC gene]
gene_encodes_gene_product
- Kelch Repeat and BTB Domain-Containing Protein 4 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- KBTBD4 Gene Mutation [NCIt concept]
- KBTBD4 Small In-Frame Insertion Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Pineal Parenchymal Tumor of Intermediate Differentiation [NCIt concept]
gene_mapped_to_disease
- Childhood Pineal Parenchymal Tumor of Intermediate Differentiation [NCIt concept]
- Pineal Parenchymal Tumor of Intermediate Differentiation [NCIt concept]
gene_plays_role_in_process
- Ubiquitination [NCIt concept]

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