Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Gene Product Sequence Variation	NCIT_C97928	[A variation in the amino acid sequence of a specific gene product.]
Mast/Stem Cell Growth Factor Receptor Kit	NCIT_C17328	[Mast/stem cell growth factor receptor Kit (976 aa, ~110 kDa) is encoded by the human KIT gene. This protein is involved in cell survival, tyrosine phosphorylation and ligand-mediated signaling.]
KIT Gene	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.]
KIT Gene Mutation	NCIT_C39712	[A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.]
PKM Gene	NCIT_C74441	[This gene is involved in cellular metabolism in muscle cells.]
Phosphotransferase Gene	NCIT_C25871	[A Phosphotransferase Gene encodes one of a large group of enzymes that transfer phosphate, diphosphate, nucleotidyl residues, and other groups. Many phosphotransferases catalyze the conversion of a proenzyme to an active enzyme or catalyze the transfer of phosphate groups to form triphosphates (e.g., ATP). Phosphotransferases have also been subdivided according to the acceptor group.]
Glycolysis	NCIT_C28152	[A series of anaerobic chemical reactions that cells utilize to produce energy. Glycolysis is a biochemical pathway in which glucose is catabolized into lactate or pyruvate via enzymatic reactions to generate ATP.]
Recovering or Resolving	NCIT_C49496	[One of the possible results of an adverse event outcome that indicates that the event is improving.]
Hyperkalemic Mineralocorticoid Resistance	NCIT_C126812	[A genetically heterogynous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4), regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid.]
PKM wt Allele	NCIT_C74442	[Human PKM wild-type allele is located in the vicinity of 15q23 and is approximately 33 kb in length. This allele, which encodes pyruvate kinase PKM protein, plays a role in the progression of glycolysis. Aberrant expression of the M2 isoform of the gene may be involved in the regulation of cancer cell growth and proliferation.]
Aldosterone Synthase Deficiency	NCIT_C126813	[An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting.]
Pyruvate Kinase PKM	NCIT_C74443	[Pyruvate kinase PKM (531 aa, ~58 kDa) is encoded by the human PKM gene. This protein is involved in muscle cell glycolysis and may play a role in bacterial pathogenesis.]
Phosphotransferase	NCIT_C16984	[A class of enzymes that transfer phosphate or phosphate-containing molecules to organic substrates. These proteins play a role in the regulation of many cellular processes.]
Recovered or Resolved	NCIT_C49498	[One of the possible results of an adverse event outcome that indicates that the event has improved or recuperated.]
Clinical Course General	NCIT_C49493
Aldosterone Synthase Deficiency Type 1	NCIT_C126814	[Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone.]
Action Taken with Study Treatment	NCIT_C49499	[The reason that changes were made to the specific therapy under study.]
Treatment Regimen	NCIT_C15697	[A treatment plan that specifies the dosage, the schedule, and the duration of treatment.]
Aldosterone Synthase Deficiency Type 2	NCIT_C126815	[Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone.]
Not Recovered or Not Resolved	NCIT_C49494	[One of the possible results of an adverse event outcome that indicates that the event has not improved or recuperated.]