KIT Gene - CISMeF

Preferred Label : KIT Gene;

NCIt synonyms : V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene; C-KIT Gene;

NCIt related terms : KIT;

CISMeF acronym : KIT;

NCIt definition : 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.;

Details

Origin ID

C18609;

UMLS CUI

C0920288;

Automatic exact mappings (from CISMeF team)
- KIT gene [LOINC component]
- KIT proto-oncogene, receptor tyrosine kinase [ORDO Gene]
- Kit - unit of product usage (qualifier value) [SNOMED CT concept]
- Kit protooncogene, receptor tyrosine kinase [OMIM gene]
- stem cell factor receptor activity [GO term]
HGNC gene
- KIT proto-oncogene, receptor tyrosine kinase [HGNC gene]
OMIM relation
- Kit protooncogene, receptor tyrosine kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KIT gene [LOINC component]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Germ Cell Tumor [NCIt concept]
gene_encodes_gene_product
- Mast/Stem Cell Growth Factor Receptor Kit [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- C-KIT Somatic Point Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating KIT Gene Mutation [NCIt concept]
- C-KIT Somatic Point Mutation [NCIt concept]
- C-KIT Tyrosine Kinase Protein Overexpression [NCIt concept]
- KIT Exon 11 Mutation [NCIt concept]
- KIT Exon 13 Mutation [NCIt concept]
- KIT Exon 14 Mutation [NCIt concept]
- KIT Exon 17 Mutation [NCIt concept]
- KIT Exon 18 Mutation [NCIt concept]
- KIT Exon 8 Mutation [NCIt concept]
- KIT Exon 9 Mutation [NCIt concept]
- KIT Gene Amplification [NCIt concept]
- KIT Gene Mutation [NCIt concept]
- KIT Gene Rearrangement [NCIt concept]
- KIT NM_000222.2:c.1669T>A [NCIt concept]
- KIT NM_000222.2:c.1669T>C [NCIt concept]
- KIT NM_000222.2:c.1676T>C [NCIt concept]
- KIT NM_000222.2:c.1727T>C [NCIt concept]
- KIT NM_000222.2:c.1924A>G [NCIt concept]
- KIT NM_000222.2:c.1939C>T [NCIt concept]
- KIT NM_000222.2:c.1958T>C [NCIt concept]
- KIT NM_000222.2:c.1961T>C [NCIt concept]
- KIT NM_000222.2:c.2447A>T [NCIt concept]
- KIT NM_000222.2:c.2458G>T [NCIt concept]
- KIT NM_000222.2:c.2464A>T [NCIt concept]
- KIT NM_000222.2:c.2466T>A [NCIt concept]
- KIT NM_000222.2:c.2466T>G [NCIt concept]
- KIT NM_000222.2:c.2466T>R [NCIt concept]
- KIT NM_000222.2:c.2485G>C [NCIt concept]
- KIT NM_000222.2:c.2492T>C [NCIt concept]
- KIT NM_000222.2:c.2537A>G [NCIt concept]
- KIT NM_000222.2:c.2554G>A [NCIt concept]
- KIT NM_000222.2:c.2576T>C [NCIt concept]
- KIT NM_000222.3:c.1676T>A [NCIt concept]
- KIT NP_000213.1:p.A829P [NCIt concept]
- KIT NP_000213.1:p.D816V [NCIt concept]
- KIT NP_000213.1:p.D820Y [NCIt concept]
- KIT NP_000213.1:p.G648D [NCIt concept]
- KIT NP_000213.1:p.I653T [NCIt concept]
- KIT NP_000213.1:p.K642E [NCIt concept]
- KIT NP_000213.1:p.K818Q [NCIt concept]
- KIT NP_000213.1:p.L576P [NCIt concept]
- KIT NP_000213.1:p.L647F [NCIt concept]
- KIT NP_000213.1:p.L813P [NCIt concept]
- KIT NP_000213.1:p.L831P [NCIt concept]
- KIT NP_000213.1:p.L859P [NCIt concept]
- KIT NP_000213.1:p.L862P [NCIt concept]
- KIT NP_000213.1:p.N822K [NCIt concept]
- KIT NP_000213.1:p.N822Y [NCIt concept]
- KIT NP_000213.1:p.S590I [NCIt concept]
- KIT NP_000213.1:p.S840I [NCIt concept]
- KIT NP_000213.1:p.S850G [NCIt concept]
- KIT NP_000213.1:p.V559A [NCIt concept]
- KIT NP_000213.1:p.V559D [NCIt concept]
- KIT NP_000213.1:p.V654A [NCIt concept]
- KIT NP_000213.1:p.V852I [NCIt concept]
- KIT NP_000213.1:p.W557R [NCIt concept]
- KIT NP_000213.1:p.Y846C [NCIt concept]
- KIT Non-Exon 9 Mutation [NCIt concept]
- KIT Protein Variant [NCIt concept]
- Non-synonymous KIT Gene Mutation [NCIt concept]
- Somatic KIT Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Gastrointestinal Autonomic Nerve Tumor [NCIt concept]
- Gastrointestinal Stromal Tumor [NCIt concept]
- Systemic Mastocytosis [NCIt concept]
gene_mapped_to_disease
- Advanced Gastrointestinal Stromal Tumor [NCIt concept]
- Aggressive Systemic Mastocytosis [NCIt concept]
- Aggressive Systemic Mastocytosis with an Associated Germ Cell Tumor [NCIt concept]
- Benign Epithelioid Cell Type Gastrointestinal Stromal Tumor [NCIt concept]
- Benign Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Benign Gastrointestinal Stromal Tumor [NCIt concept]
- Bone Marrow Mastocytosis [NCIt concept]
- Childhood Gastrointestinal Stromal Tumor [NCIt concept]
- Colorectal Gastrointestinal Stromal Tumor [NCIt concept]
- Dedifferentiated Gastrointestinal Stromal Tumor [NCIt concept]
- Epithelioid Cell Type Gastrointestinal Stromal Tumor [NCIt concept]
- Esophageal Gastrointestinal Stromal Tumor [NCIt concept]
- Extragastrointestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Gastric Gastrointestinal Stromal Tumor of Uncertain Malignant Potential [NCIt concept]
- Gastric Malignant Gastrointestinal Stromal Tumor [NCIt concept]
- Gastric and Omental Gastrointestinal Stromal Tumor by AJCC v8 Stage [NCIt concept]
- Gastrointestinal Autonomic Nerve Tumor [NCIt concept]
- Gastrointestinal Stromal Tumor [NCIt concept]
- Gastrointestinal Stromal Tumor by AJCC v8 Stage [NCIt concept]
- Gastrointestinal Stromal Tumor of Uncertain Malignant Potential [NCIt concept]
- Gastrointestinal Stromal Tumor of the Gastrointestinal Tract [NCIt concept]
- Indolent Systemic Mastocytosis [NCIt concept]
- Locally Advanced Gastrointestinal Stromal Tumor [NCIt concept]
- Malignant Epithelioid Cell Type Gastrointestinal Stromal Tumor [NCIt concept]
- Malignant Gastrointestinal Stromal Tumor [NCIt concept]
- Malignant Mastocytosis [NCIt concept]
- Mast Cell Leukemia [NCIt concept]
- Mast Cell Leukemia with an Associated Myeloid Neoplasm [NCIt concept]
- Mast Cell Sarcoma [NCIt concept]
- Mesenteric Gastrointestinal Stromal Tumor [NCIt concept]
- Metastatic Gastrointestinal Stromal Tumor [NCIt concept]
- Mixed Cell Type Gastrointestinal Stromal Tumor [NCIt concept]
- Omentum Gastrointestinal Stromal Tumor [NCIt concept]
- Peritoneal Gastrointestinal Stromal Tumor [NCIt concept]
- Piebaldism [NCIt concept]
- Rectal Gastrointestinal Stromal Tumor [NCIt concept]
- Recurrent Gastrointestinal Stromal Tumor [NCIt concept]
- Recurrent Malignant Mastocytosis [NCIt concept]
- Recurrent Mast Cell Leukemia [NCIt concept]
- Refractory Malignant Gastrointestinal Stromal Tumor [NCIt concept]
- Refractory Malignant Mastocytosis [NCIt concept]
- Retroperitoneal Gastrointestinal Stromal Tumor [NCIt concept]
- Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor by AJCC v8 Stage [NCIt concept]
- Smoldering Systemic Mastocytosis [NCIt concept]
- Smoldering Systemic Mastocytosis with an Associated Myeloid Neoplasm [NCIt concept]
- Spindle Cell Type Gastrointestinal Stromal Tumor [NCIt concept]
- Stage I Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage I Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Stage I Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IA Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IB Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IB Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage II Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage II Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage II Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Stage II Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage III Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage III Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IIIA Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IIIA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IIIA Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IIIA Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IIIB Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IIIB Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IIIB Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IIIB Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IV Gastric Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IV Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Stage IV Small Intestinal Gastrointestinal Stromal Tumor [NCIt concept]
- Stage IV Small Intestinal, Esophageal, Colorectal, Mesenteric, and Peritoneal Gastrointestinal Stromal Tumor AJCC v8 [NCIt concept]
- Systemic Mastocytosis [NCIt concept]
- Systemic Mastocytosis with an Associated Germ Cell Tumor [NCIt concept]
- Systemic Mastocytosis with an Associated Myeloid Neoplasm [NCIt concept]
- Unresectable Malignant Gastrointestinal Stromal Tumor [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]
genetic_biomarker_related_to
- CD117 Expression Measurement [NCIt concept]
- Hereditary Gastrointestinal Stromal Tumor [NCIt concept]
- Is Another KIT Mutation Present [NCIt concept]
- KIT Gene Mutation Negative [NCIt concept]
- KIT K642E Negative [NCIt concept]
- KIT L576P Negative [NCIt concept]
- KIT Mutation Analysis [NCIt concept]
- KIT Mutation Analysis Testing Method [NCIt concept]
- KIT Mutation Analysis Was Not Performed [NCIt concept]
- KIT Mutation Analysis Was Performed [NCIt concept]
- KIT Negative [NCIt concept]
- KIT Overexpression Positive [NCIt concept]
- KIT Positive [NCIt concept]
- KIT V559A Negative [NCIt concept]
- KIT V559D Negative [NCIt concept]
- KIT W557R Negative [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Kit Measurement [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Kit [Presence] in Blood by Immune Stain [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Kit [Presence] in Bone Marrow by Immune Stain [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Kit [Presence] in Tissue by Immune Stain [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Kit [Presence] in Unspecified Specimen by Immune Stain [NCIt concept]
- Not Known if KIT Mutation Analysis Was Performed [NCIt concept]
- Specify KIT Exons Assessed [NCIt concept]
- Specify KIT Mutation [NCIt concept]
- Specify Other KIT Mutation [NCIt concept]
- Was KIT Mutation Analysis Performed [NCIt concept]

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