KIT wt Allele - CISMeF

Preferred Label : KIT wt Allele;

NCIt synonyms : C-KIT; CD117; SCFR; V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog wt Allele; SCF Receptor Gene; Stem Cell Factor Receptor Gene; KIT; C-KIT wt Allele;

NCIt definition : Human KIT wild-type allele is located within 4q11-q12 and is approximately 83 kb in length. This allele, which encodes mast/stem cell growth factor receptor protein, plays a role in the mediation of transmembrane-receptor interactions. Mutations in the gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism.;

GenBank Accession Number : X06182;

Details

Origin ID

C51741;

UMLS CUI

C1704888;

OMIM relation
- Kit protooncogene, receptor tyrosine kinase [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_associated_with_disease
- Germ Cell Tumor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- C-KIT Somatic Point Mutation [NCIt concept]
gene_has_physical_location
- 4: 55365089-55447783 [NCIt concept]
gene_in_chromosomal_location
- 4q11-q12 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastrointestinal Autonomic Nerve Tumor [NCIt concept]
- Gastrointestinal Stromal Tumor [NCIt concept]
- Systemic Mastocytosis [NCIt concept]
gene_plays_role_in_process
- Hematopoietic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Spermatogenesis [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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