Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
EPGN wt Allele	NCIT_C105919	[Human EPGN wild-type allele is located in the vicinity of 4q13.3 and is approximately 7 kb in length. This allele, which encodes epigen protein, is involved in epidermal cell survival, proliferation, and migration.]
JAK2 NM_004972.3:c.1848_1849delTGinsCT	NCIT_C105909	[A complex substitution where the nucleotide sequence at positions 1848 and 1849 of the coding sequence of the JAK2 gene has changed from thymine-guanine to cytosine-thymine.]
GLIS2 Gene	NCIT_C105900	[This gene is involved in transcriptional regulation and signaling pathway modulation.]
GLIS2 wt Allele	NCIT_C105901	[Human GLIS2 wild-type allele is located in the vicinity of 16p13.3 and is approximately 25 kb in length. This allele, which encodes zinc finger protein GLIS2, plays a role in the modulation of both signaling and transcription. Mutation of the gene is associated with type 7 nephronophthisis.]
Zinc Finger Protein GLIS2	NCIT_C105902	[Zinc finger protein GLIS2 (524 aa, ~56 kDa) is encoded by the human GLIS2 gene. This protein is involved in the regulation of transcription and the repression of signaling pathways.]
Lauren Classification	NCIT_C105904	[A classification scheme in which gastric adenocarcinomas are separated into diffuse adenocarcinoma, intestinal type adenocarcinoma, mixed adenocarcinoma, or indeterminate type adenocarcinoma.]
Cytochrome P450 2A6	NCIT_C105905	[Cytochrome P450 2A6 (494 aa, ~57 kDa) is encoded by the human CYP2A6 gene. This protein is involved in the metabolism of xenobiotics.]
Tyrosine-Protein Kinase JAK2	NCIT_C28494	[Tyrosine-protein kinase JAK2 (1132 aa, ~131 kDa) is encoded by the human JAK2 gene. This protein is involved in immunity, tyrosine phosphorylation and signal transduction.]
JAK2 Gene	NCIT_C24529	[This gene is involved in erythropoiesis and signal transduction.]
Claudin-Low	NCIT_C105907	[A genetic profile indicating low expression of cellular tight junction proteins, including E-cadherin, which is often associated with triple-negative breast cancer and tumor-infiltrating lymphocytes.]
JAK2 NP_004963.1:p.V617X	NCIT_C117283	[A change in the amino acid residue at position 617 in the tyrosine-protein kinase JAK2 protein where valine has been replaced by another amino acid. A change to phenylalanine at this position is associated with polycythemia vera.]
Endothelin Receptor Type B	NCIT_C105930	[Endothelin receptor type B (442 aa, ~50 kDa) is encoded by the human EDNRB gene. This protein is involved in vasoconstriction and vasodilation.]
FGD5 Gene	NCIT_C105931	[This gene plays a role in the reorganization of the actin cytoskeleton.]
FGD5 wt Allele	NCIT_C105932	[Human FGD5 wild-type allele is located in the vicinity of 3p25.1 and is approximately 116 kb in length. This allele, which encodes FYVE, RhoGEF and PH domain-containing protein 5, is involved in both signal transduction and the reorganization of the actin cytoskeleton.]
FYVE, RhoGEF and PH Domain-Containing Protein 5	NCIT_C105933	[FYVE, RhoGEF and PH domain-containing protein 5 (1462 aa, ~160 kDa) is encoded by the human FGD5 gene. This protein plays a role in both signal transduction and the reorganization of the actin cytoskeleton.]
LDB2 Gene	NCIT_C105934	[This gene is involved in the regulation of transcription.]
LDB2 wt Allele	NCIT_C105935	[Human LDB2 wild-type allele is located in the vicinity of 4p16 and is approximately 397 kb in length. This allele, which encodes LIM domain-binding protein 2, plays a role in the modulation of gene transcription.]
LIM Domain-Binding Protein 2	NCIT_C105936	[LIM domain-binding protein 2 (373 aa, ~43 kDa) is encoded by the human LDB2 gene. This protein is involved in transcription factor regulation.]
PALMD Gene	NCIT_C105937	[This gene may play a role in plasma membrane dynamics.]
PALMD wt Allele	NCIT_C105938	[Human PALMD wild-type allele is located in the vicinity of 1p22-p21 and is approximately 49 kb in length. This allele, which encodes palmdelphin protein, may be involved in plasma membrane dynamics.]