Terminology Service for NFDI4Health
KIT Gene
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http://purl.obolibrary.org/obo/NCIT_C18609
This gene plays a role in cellular hematopoiesis and differentiations. Mutations in the gene are associated with several diseases, including acute myelogenous leukemia, gastrointestinal tumors, and mast cell disease. [ ]
Term info
Label
KIT Gene
Synonyms
- KIT
- KIT Gene
- V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene
Subsets
NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
KIT Gene
HGNC ID
HGNC:6342
Legacy Concept Name
C-KIT_Gene
Maps To
KIT
OMIM Number
164920
Preferred Name
KIT Gene
Semantic Type
Gene or Genome
UMLS CUI
C1416655
code
C18609
Term relations
Subclass of:
- Receptor Tyrosine Kinase Gene
- Gene_Involved_In_Pathogenesis_Of_Disease some Systemic Mastocytosis
- Gene_Involved_In_Pathogenesis_Of_Disease some Gastrointestinal Stromal Tumor
- Gene_Plays_Role_In_Process some Spermatogenesis
- Gene_Plays_Role_In_Process some Tyrosine Phosphorylation
- Gene_Plays_Role_In_Process some Melanogenesis
- Gene_Involved_In_Pathogenesis_Of_Disease some Gastrointestinal Autonomic Nerve Tumor
- Gene_Plays_Role_In_Process some Hematopoietic Process
- Gene_Has_Abnormality some C-KIT Somatic Point Mutation
- Gene_Plays_Role_In_Process some Signal Transduction
- Gene_Associated_With_Disease some Germ Cell Tumor