Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
PTPN22 wt Allele	NCIT_C49524	[Human PTPN22 wild-type allele is located within 1p13.3-p13.1 and is approximately 123 kb in length. This allele, which encodes tyrosine-protein phosphatase non-receptor type 22 protein, plays a role in the dephosphorylation of protein-tyrosine phosphates. Functional PTPN22 gene polymorphisms are associated with susceptibility to insulin-dependent diabetes mellitus, rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto thyroiditis.]
PTPN22 Gene	NCIT_C24707	[This gene plays a role in the regulation of the immune system, the development of autoimmunity and the cellular response to pathogens.]
CCNE1 wt Allele	NCIT_C49525	[Human CCNE1 wild-type allele is located within 19q12 and is approximately 12 kb in length. This allele, which encodes G1/S-specific cyclin-E1 protein, is involved in the regulation of the G1/S transition of the cell cycle. Variant allelic overexpression has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis.]
CCNE1 Gene	NCIT_C21412	[This gene regulates the G1/S phase of the cell cycle by cyclin expression.]
Platelet Membrane Glycoprotein 1b Alpha Chain	NCIT_C126548	[Platelet glycoprotein Ib alpha chain (652 aa, ~72 kDa) is encoded by the human GP1BA gene. This protein plays a role in von Willebrand factor binding.]
GP1BB Gene	NCIT_C126549	[This gene is involved in the regulation of blood coagulation.]
Positive Regulation of Platelet Aggregation Process	NCIT_C40712	[Any platelet aggregation process that increases the rate, frequency or extent of platelet aggregation.]
Platelet Activation	NCIT_C40854	[Platelet Activation involves initiation of a set of stimulated platelet activities involved in aggregation of platelets and fibrin during blood coagulation.]
PTPN12 wt Allele	NCIT_C49520	[Human PTPN12 wild-type allele is located in the vicinity of 7q11.23 and is approximately 103 kb in length. This allele, which encodes tyrosine-protein phosphatase non-receptor type 12 protein, plays a role in the dephosphorylation of protein-tyrosine phosphates. Defects in the PTPN12 gene are associated with colon cancer.]
PTPN12 Gene	NCIT_C24706	[This gene plays a role in the regulation of cell shape and mobility.]
GABRA3 wt Allele	NCIT_C126544	[Human GABRA3 wild-type allele is located in the vicinity of Xq28 and is approximately 285 kb in length. This allele, which encodes gamma-aminobutyric acid receptor subunit alpha-3 protein, plays a role in both the inhibition of neurotransmission and chloride transport.]
GABRA3 Gene	NCIT_C126543	[This gene is involved in neurotransmission and ligand-gated ion transport.]
Gamma-Aminobutyric Acid Receptor Subunit Alpha-3	NCIT_C126545	[Gamma-aminobutyric acid receptor subunit alpha-3 (492 aa, ~55 kDa) is encoded by the human GABRA3 gene. This protein is involved in both ligand-gated chloride transport and the inhibition of neurotransmission.]
GP1BA Gene	NCIT_C126546	[This gene plays a role in platelet aggregation.]
GP1BA wt Allele	NCIT_C126547	[Human GP1BA wild-type allele is located in the vicinity of 17p13.2 and is approximately 3 kb in length. This allele, which encodes platelet glycoprotein Ib alpha chain protein, is involved in the regulation of blood coagulation. Mutation of the gene is associated with Bernard-Soulier syndrome type A1 and platelet-type von Willebrand disease and with increased susceptibility to nonarteritic anterior ischemic optic neuropathy.]
DLST Gene	NCIT_C126540	[This gene plays a role in both the citric acid cycle and lysine degradation.]
DLST wt Allele	NCIT_C126541	[Human DLST wild-type allele is located in the vicinity of 14q24.3 and is approximately 22 kb in length. This allele, which encodes dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial protein, is involved in both lysine degradation and the tricarboxylic acid cycle.]
Dihydrolipoyllysine-Residue Succinyltransferase Component of 2-Oxoglutarate Dehydrogenase Complex, Mitochondrial	NCIT_C126542	[Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (453 aa, ~49 kDa) is encoded by the human DLST gene. This protein plays a role in both the Krebs cycle and lysine catabolism.]
Transferase	NCIT_C17210	[Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). The classification is based on the scheme "donor: acceptor group transferase". (EC 2 class)]
Neuronal Transmission	NCIT_C21575	[Any process in which a presynaptic cell transfers a signal to a postsynaptic cell, by either release of a neurotransmitter or by passage of an electrical current via specialized channels. This process is essential to all neuronal functions.]