GATA1 Gene - CISMeF

Preferred Label : GATA1 Gene;

NCIt synonyms : GATA Binding Protein 1 Gene; GATA1;

CISMeF acronym : GATA1;

NCIt definition : This gene is involved in erythropoiesis and transcriptional activation.;

Details

Origin ID

C28575;

UMLS CUI

C1333663;

HGNC gene
- GATA binding protein 1 [HGNC gene]
OMIM relation
- Gata-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GATA binding protein 1 [HGNC gene]
- GATA1 gene [LOINC component]
- Gata-binding protein 1 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Myeloid Leukemia Associated with Down Syndrome [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]
gene_encodes_gene_product
- Erythroid Transcription Factor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- GATA1 Exon 2 Mutation [NCIt concept]
- GATA1 Exon 3 Mutation [NCIt concept]
- GATA1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Myeloid Leukemia Associated with Down Syndrome [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]
- X-Linked Thrombocytopenia with Beta-Thalassemia [NCIt concept]
- X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Erythropoiesis [NCIt concept]
- Megakaryocyte Differentiation [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- GATA1 Gene Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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