SF3B1 Gene - CISMeF

Preferred Label : SF3B1 Gene;

NCIt synonyms : Splicing Factor 3b Subunit 1 Gene;

NCIt related terms : SF3B1;

CISMeF acronym : SF3B1;

NCIt definition : This gene is involved in mRNA splicing.;

Details

Origin ID

C98284;

UMLS CUI

C1419980;

HGNC gene
- splicing factor 3b subunit 1 [HGNC gene]
OMIM relation
- Splicing factor 3b, subunit 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SF3B1 gene [LOINC component]
- Splicing factor 3b, subunit 1 [OMIM gene]
- splicing factor 3b subunit 1 [HGNC 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_encodes_gene_product
- Splicing Factor 3B Subunit 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- SF3B1 Gene Mutation [NCIt concept]
- SF3B1 NP_036565.2:p.A774X [NCIt concept]
- SF3B1 NP_036565.2:p.D781X [NCIt concept]
- SF3B1 NP_036565.2:p.E622X [NCIt concept]
- SF3B1 NP_036565.2:p.G740X [NCIt concept]
- SF3B1 NP_036565.2:p.G742X [NCIt concept]
- SF3B1 NP_036565.2:p.H662X [NCIt concept]
- SF3B1 NP_036565.2:p.I704X [NCIt concept]
- SF3B1 NP_036565.2:p.K666X [NCIt concept]
- SF3B1 NP_036565.2:p.K700X [NCIt concept]
- SF3B1 NP_036565.2:p.K741X [NCIt concept]
- SF3B1 NP_036565.2:p.N626X [NCIt concept]
- SF3B1 NP_036565.2:p.R625X [NCIt concept]
- SF3B1 NP_036565.2:p.T663X [NCIt concept]
- SF3B1 NP_036565.2:p.V701X [NCIt concept]
- SF3B1 NP_036565.2:p.Y623X [NCIt concept]
- SF3B1 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with SF3B1 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Mutated SF3B1 [NCIt concept]
- Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with SF3B1 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Mutated SF3B1 [NCIt concept]
- Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis [NCIt concept]
gene_plays_role_in_process
- RNA Splicing [NCIt concept]
genetic_biomarker_related_to
- SF3B1 Gene Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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