ASXL1 Gene - CISMeF

Preferred Label : ASXL1 Gene;

NCIt synonyms : ASXL Transcriptional Regulator 1 Gene;

NCIt related terms : ASXL1;

CISMeF acronym : ASXL1;

NCIt definition : This gene may be involved in both transcriptional regulation and chromatin remodeling.;

Details

Origin ID

C97320;

UMLS CUI

C1425445;

Automatic exact mappings (from CISMeF team)
- ASXL transcriptional regulator 1 [ORDO Gene]
- ASXL1 gene [LOINC component]
- Asxl transcriptional regulator 1 [OMIM gene]
HGNC gene
- ASXL transcriptional regulator 1 [HGNC gene]
OMIM relation
- Asxl transcriptional regulator 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ASXL transcriptional regulator 1 [HGNC gene]
- ASXL1 gene [LOINC component]
- Asxl transcriptional regulator 1 [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Putative Polycomb Group Protein ASXL1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ASXL1 Gene Mutation [NCIt concept]
- ASXL1 Gene Rearrangement [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with ASXL1 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Somatic Mutation [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with ASXL1 Mutation [NCIt concept]
- Bohring-Opitz Syndrome [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- Bohring-Opitz Syndrome [NCIt concept]
- Clonal Hematopoiesis of Indeterminate Potential [NCIt concept]

Keyword's position in hierarchy(ies) :

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