ASXL1 wt Allele

Preferred Label : ASXL1 wt Allele;

NCIt synonyms : MGC117280; Additional Sex Combs Like 1 (Drosophila) Gene; RP11-358N2.1; KIAA0978; MGC71111; ASXL Transcriptional Regulator 1 wt Allele; Additional Sex Combs Like 1, Transcriptional Regulator 1 Gene; MDS; BOPS;

NCIt definition : Human ASXL1 wild-type allele is located in the vicinity of 20q11 and is approximately 81 kb in length. This allele, which encodes putative Polycomb group protein ASXL1, may play a role in the regulation of both chromatin structure and transcription. Mutation of the gene is associated with both myelodysplastic syndromes and chronic myelomonocytic leukemia.;

GenBank Accession Number : AJ438952;

Details

Origin ID

C97321;

UMLS CUI

C3273357;

Automatic exact mappings (from CISMeF team)
- ASXL transcriptional regulator 1 [ORDO Gene]
- Asxl transcriptional regulator 1 [OMIM gene]
- Bohring-opitz syndrome [OMIM Phenotype]
- MDS [MedDRA LLT]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-dieker lissencephaly syndrome [OMIM Phenotype]
- Myelodysplastic syndrome [OMIM Phenotype]
- Myelodysplastic syndromes [Bloc CIM-11]
- myelodysplastic syndromes [MedlinePlus Topic]
OMIM relation
- Asxl transcriptional regulator 1 [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 ASXL1 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Somatic Mutation [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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