Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
NSAA - Stand Up From Chair	NCIT_C132538	[North Star Ambulatory Assessment (NSAA) Stand up from the chair keeping your arms folded if you can.]
NSAA - Stand on One Leg - Right	NCIT_C132539	[North Star Ambulatory Assessment (NSAA) Can you stand on your right leg for as long as you can?]
Granulocyte-Macrophage Colony-Stimulating Factor	NCIT_C20545	[Granulocyte-macrophage colony-stimulating factor (144 aa, ~16 kDa) is encoded by the human CSF2 gene. This protein plays a role in the positive regulation of the growth and differentiation of cells in the granulocyte, macrophage, eosinophil and erythrocyte lineages.]
Colony Stimulating Factor	NCIT_C20586	[A substance that stimulates the production of blood cells. Colony-stimulating factors include granulocyte colony-stimulating factor (G-CSF), granulocyte-macrophage colony-stimulating factor (GM-CSF), and promegapoietin.]
Sonogram	NCIT_C20546
Fibroblast Growth Factor 2	NCIT_C20547	[Fibroblast growth factor 2 (288 aa, ~31 kDa) is encoded by the human FGF2 gene. This protein plays a role in the regulation of cell proliferation, angiogenesis, and limb and nervous system development.]
Fibroblast Growth Factor 1	NCIT_C20548	[Fibroblast growth factor 1 (17 aa, ~155 kDa) is encoded by the human FGF1 gene. This protein plays a role in cell proliferation, angiogenesis, cell differentiation, and cell migration.]
TAF12 Gene	NCIT_C20541	[This gene is involved in transcriptional initiation.]
TAF13 Gene	NCIT_C20542	[This gene is involved in transcriptional initiation.]
Basal Transcription Factor Gene	NCIT_C30096	[Human Basal Transcription Factor Genes encode Basal Transcription Factors, a diverse group of general factors required for transcription of all eukaryotic PolII genes. Initiation of transcription from eukaryotic protein-coding genes is a complex process requiring RNA polymerase II (PolII) and a cadre of transcription factors. The general transcription factors and PolII form a multiprotein complex near the transcription start site by interacting with core promoter elements. The most common core element is the TATA box, typically 25-30 bp upstream of the start site.]
TSQM Version 1.4 Questionnaire Question	NCIT_C132530	[A question associated with the TSQM Version 1.4 questionnaire.]
TFIIA Subunit Gene	NCIT_C20544	[The three subunits of the TFIIA complex (alpha, bet, and gamma) are encoded by the GTF2A1 and GTF2A2 genes. TFIIA has multiple roles in transcription initiation by RNA polymerase II. First, the association of TFIIA and TBP stabilizes the TBP-TATA element interaction. In so doing, TFIIA also stimulates transcription by displacing TBP-associated repressors and counteracts the ability to inhibit TBP binding to DNA. Second, TFIIA serves as a cofactor for the activators and coactivators. Third, TFIIA is required for the isomerization and extension of TFIID-promoter contacts and for stabilizing interactions between TFIID and initiator sequences. (from PMID 10364255)]
North Star Ambulatory Assessment Clinical Classification	NCIT_C132531	[A standardized 17-item scale that was developed by Elaine Scott and Michelle Eagle in 2011 to measure functional motor ability in ambulant children and adolescents with Duchenne muscular dystrophy. The instrument, which is partly based on the Hammersmith Motor Ability Scale (2003), utilizes a 3-point rating scale to grade activities ranging from standing to running, as well as abilities that are necessary for a patient to remain functionally ambulant and that are known to progressively deteriorate in untreated DMD.]
Fibroblast Growth Factor 4	NCIT_C20550	[Fibroblast growth factor 4 (206 aa, ~22 kDa) is encoded by the human FGF4 gene. This protein plays a role in the modulation of cell proliferation, cell differentiation, and embryonic development.]
TBPL1 Gene	NCIT_C20551	[This gene is involved in transcriptional activation and spermiogenesis.]
PDGFRA NP_006197.1:p.D842V	NCIT_C107570	[A change in the amino acid residue at position 842 in the platelet-derived growth factor receptor alpha protein where aspartic acid has been replaced by valine.]
PDGFRA Protein Variant	NCIT_C107569	[A variation in the amino acid sequence for the platelet-derived growth factor receptor alpha protein.]
PDGFRA NM_006206.4:c.2525A>T	NCIT_C107568	[A nucleotide substitution at position 2525 of the coding sequence of the PDGFRA gene where adenine has been mutated to thymine.]
PROS1 Gene	NCIT_C107571	[This gene plays a role in inhibiting blood coagulation.]
PROS1 wt Allele	NCIT_C107572	[Human PROS1 wild-type allele is located in the vicinity of 3q11.2 and is approximately 101 kb in length. This allele, which encodes vitamin K-dependent protein S, is involved in the regulation of coagulation. Mutations in this gene are associated with both autosomal dominant and autosomal recessive thrombophilia due to protein S deficiency.]