WT1 wt Allele - CISMeF

Preferred Label : WT1 wt Allele;

NCIt synonyms : WT33; Wilms Tumor 1 Gene; WAGR; WIT-2; GUD; NPHS4; AWT1; WT1 Transcription Factor wt Allele; WT-1;

NCIt definition : Human WT1 wild-type allele is located in the vicinity of 11p13 and is approximately 48 kb in length. This allele, which encodes Wilms' tumor protein, plays a role in the modulation of both transcription and urogenital development. Mutations in the gene are linked to Wilms' tumor.;

NCIt note : The WT1 gene is expressed as multiple distinct isoforms some of which arise from a non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG. (Entrez Gene);

GenBank Accession Number : NM_000378;

Details

Origin ID

C53122;

UMLS CUI

C1704667;

OMIM relation
- Wt1 transcription factor [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_abnormality
- Inactivating WT1 Gene Mutation [NCIt concept]
gene_in_chromosomal_location
- 11p13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Denys-Drash Syndrome [NCIt concept]
- WAGR Syndrome [NCIt concept]
- Wilms Tumor [NCIt concept]
gene_is_element_in_pathway
- Interferon Signaling Modulation Pathway [NCIt concept]
- Tert Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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