BCOR wt Allele

Preferred Label : BCOR wt Allele;

NCIt synonyms : MAA2; KIAA1575; FLJ20285; BCL6 Co-Repressor Gene; BCL6 Corepressor wt Allele; ANOP2; MCOPS2;

NCIt definition : Human BCOR wild-type allele is located in the vicinity of Xp11.4 and is approximately 128 kb in length. This allele, which encodes BCL-6 corepressor protein, is involved in transcriptional regulation. Mutation of the gene is associated with microphthalmia syndromic type 2.;

GenBank Accession Number : AF317391;

Details

Origin ID

C101092;

UMLS CUI

C3541257;

Automatic exact mappings (from CISMeF team)
- BCL6 corepressor [ORDO Gene]
- Bcl6 corepressor [OMIM gene]
- Microphthalmia, syndromic 2 [OMIM Phenotype]
- microphthalmia, syndromic 2 [MeSH Supplementary Concept]
- syndromic microphthalmia 2 [DO Concept]
OMIM relation
- Bcl6 corepressor [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_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with BCOR Mutation [NCIt concept]
- Central Nervous System Tumor with BCOR Internal Tandem Duplication [NCIt concept]
- Clear Cell Sarcoma of the Kidney [NCIt concept]
- Sarcoma with BCOR Genetic Alterations [NCIt concept]
gene_is_element_in_pathway
- HDAC Class II Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Odontogenesis [NCIt concept]
- Pattern Formation [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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