Terminology Service for NFDI4Health
All terms in NCIT
| Label | Id | Description |
|---|---|---|
| Disease Steps Clinical Classification | NCIT_C112519 | [A standardized rating scale developed by Hohol et al in 1995, which is a self-assessment scale of functional disability in multiple sclerosis patients primarily based on ambulation. The questionnaire contains 1 question which is scored ranging from 0 (normal) to 6 (confined to wheelchair). There is an additional score for 'U' (unclassifiable) for patients who do not fit into the 0 to 6 classification categories.] |
| Clinical Classification | NCIT_C118969 | [A named instrument whose output is an ordinal or categorical score that serves as a surrogate for, or ranking of, disease status or other physiological or biological status.] |
| Nuclear Receptor Subfamily 5 Group A Member 2 | NCIT_C112512 | [Nuclear receptor subfamily 5 group A member 2 (541 aa, ~61 kDa) is encoded by the human NR5A2 gene. This protein is involved in both transcriptional regulation and hormone binding.] |
| Nuclear Receptor | NCIT_C17671 | [Proteins that regulate transcription via interaction with chromatin and basal transcription machinery at the promoter regions of genes. Nuclear receptors are ligand-dependent transcription factors including steroids, retinoids, vitamin D, unliganded thyroid hormone, and orphan receptors (unknown ligands). Coregulators (coactivators or corepressors) are important in mediating these interactions and thereby modulate positive or negative receptor activity.] |
| NPR1 Gene | NCIT_C112513 | [This gene plays a role in ligand-dependent cyclic GMP synthesis.] |
| Vascular Permeability Alteration | NCIT_C40864 | [Vascular Permeability Alteration involves a qualitative change in the existing capacity of substances to pass from the vascular lumen, through a blood vessel wall, into surrounding tissue, or vice versa.] |
| NPR1 wt Allele | NCIT_C112514 | [Human NPR1 wild-type allele is located within 1q21-q22 and is approximately 15 kb in length. This allele, which encodes atrial natriuretic peptide receptor 1 protein, is involved in both natriuretic peptide binding and GTP metabolism.] |
| Atrial Natriuretic Peptide Receptor 1 | NCIT_C112515 | [Atrial natriuretic peptide receptor 1 (1061 aa, ~119 kDa) is encoded by the human NPR1 gene. This protein plays a role in both guanylate cyclase activity and natriuretic peptide binding.] |
| Lyase | NCIT_C16804 | [Trivial name applied, together with dehydratase, to certain hydro-lyases (EC class 4.2.1) catalyzing hydration-dehydration.] |
| Ribosome Assembly Interference | NCIT_C40540 | [Ribosome Assembly Interference involves inhibition or restraint of the formation of ribosomes.] |
| Ribosomal Interaction | NCIT_C40539 | [Ribosomal Interaction involves temporary non-covalent binding between biomolecules and ribosomes.] |
| NR5A2 Gene | NCIT_C112510 | [This gene is involved in ligand-dependent transcriptional regulation.] |
| Nuclear Receptor Gene | NCIT_C20709 | [Nuclear Receptor Genes (NR Superfamily) encode over 300 ligand-dependent Nuclear Receptor (NRs) transcription factors: steroid, retinoid, vitamin D, TH, and orphan receptors (unknown ligands). Transducing hormone signals into gene transcription, NRs regulate development, pattern formation, cell proliferation, cell differentiation, and homeostasis in target tissues. NRs share a common organization: an (N) modulatory domain, a conserved central Cys-rich region of two C4 zinc fingers that bind to specific upstream ligand-responsive target DNA elements, and a (C) ligand-binding domain. Stabilizing hydrophobic zinc finger interactions contribute to DNA binding specificity, homodimerization, and interaction with other proteins. Ligand-bound NR conformation allows coactivator interaction with the hormone-binding domain that mediates interaction with heat shock proteins, cyclophilins, and hormone. (NCI)] |
| Transcription Initiation | NCIT_C20147 | [Transcription Initiation involves RNA polymerase (and usually other factors) binding at a specific gene promoter DNA site followed by local DNA unwinding and inauguration of the 5-prime to 3-prime biosynthesis of an RNA transcript complementary to the DNA template.] |
| Serotonin Receptor Binding | NCIT_C40542 | [A process that involves the binding of serotonin to the serotonin receptor. These interactions are involved in regulation of mood, appetite, sleep, muscle contraction and some cognitive functions including memory and learning.] |
| NR5A2 wt Allele | NCIT_C112511 | [Human NR5A2 wild-type allele is located in the vicinity of 1q32.1 and is approximately 150 kb in length. This allele, which encodes nuclear receptor subfamily 5 group A member 2 protein, plays a role in ligand-dependent regulation of gene transcription.] |
| Maturity Onset Diabetes of the Young Pathway | NCIT_C91449 | |
| 1q32.1 | NCIT_C25013 | [A chromosome band present on 1q] |
| Sodium Channel Binding | NCIT_C40543 | [A process that involves the binding of a neurotransmitter to a ligand-gated sodium channel protein. This interaction plays a role in the regulation of signaling pathways that mediate muscle cell depolarization.] |
| Electric Warmer | NCIT_C112509 | [A device that converts electricity to heat.] |