EPO wt Allele - CISMeF

Preferred Label : EPO wt Allele;

NCIt synonyms : EP; Erythropoietin wt Allele; MVCD2;

NCIt definition : Human EPO wild-type allele is located within 7q22 and is approximately 3 kb in length. This allele, which encodes erythropoietin protein, plays a role in erythroid differentiation and in the initiation of hemoglobin synthesis.;

GenBank Accession Number : NM_000799;

Details

Origin ID

C49784;

UMLS CUI

C1706321;

Automatic exact mappings (from CISMeF team)
- Ectopic pregnancy [ICD-11 Category]
- Elastosis perforans serpiginosa [OMIM Phenotype]
- Erythropoietin [OMIM gene]
- Exophthalmos producing substance (substance) [SNOMED CT concept]
- Interleukin-1 (substance) [SNOMED CT concept]
- Microvascular complications of diabetes, susceptibility to, 2 [OMIM Phenotype]
- Pneumonia caused by Mycoplasma pneumoniae (disorder) [SNOMED CT concept]
- Sleeping [LOINC component]
- epidemiology [MeSH Descriptor]
- erythropoietin [ORDO Gene]
- sleep [MeSH Descriptor]
False automatic mappings
- Meier-gorlin syndrome 1 [OMIM Phenotype]
OMIM relation
- Erythropoietin [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_has_physical_location
- 7: 99963074-99965974 [NCIt concept]
gene_in_chromosomal_location
- 7q22 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- EPO Signaling Pathway [NCIt concept]
- Erythrocyte Differentiation Pathway [NCIt concept]
- Erythropoietin Neuroprotection Pathway [NCIt concept]
- Erythropoietin Signaling Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
- Hematopoiesis Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cytokine Receptor Activation [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Erythropoiesis [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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