Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
TSC1 Gene Mutation	NCIT_C118398	[A change in the nucleotide sequence of the TSC1 gene.]
Turcot Syndrome Type 1	NCIT_C40463	[An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.]
Turcot Syndrome	NCIT_C3938	[An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.]
Turcot Syndrome Type 2	NCIT_C40464	[An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis.]
Jaw Keratocyst	NCIT_C40465
CPNE1 wt Allele	NCIT_C112830	[Human CPNE1 wild-type allele is located in the vicinity of 20q11.22 and is approximately 39 kb in length. This allele, which encodes copine-1 protein, is involved in both vesicle transport and calcium binding.]
CPNE1 Gene	NCIT_C112828	[This gene plays a role in both calcium binding and vesicle transport.]
20q11.22	NCIT_C39289	[A chromosome band present on 20q]
Cutaneous Melanoma cM1a TNM Finding v7	NCIT_C88408	[Cutaneous melanoma with metastases to skin, subcutaneous tissues, or distant lymph nodes associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)]
Cutaneous Melanoma cM1b TNM Finding v7	NCIT_C88409	[Cutaneous melanoma with metastases to lung associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)]
Alkylation Process	NCIT_C40468	[Alkylating Activity in biological systems is typically a process of covalent bonding in which a chemical substance replaces hydrogen atom(s) in biologically active molecules with alkyl radical(s), hindering proper function. DNA alkylation results in strand cross-linking and can inhibit DNA replication.]
Amino Acid Receptor Binding	NCIT_C40469	[A process that involves the binding of any member of the group of amino acid neurotransmitters, including glutamate, aspartate, serine, glycine and gamma-aminobutyric acid, to their respective receptors. These interactions are involved in neurotransmission.]
Angiotensin II Receptor Binding	NCIT_C40471	[A process that involves the non-covalent binding of angiotensin II to an angiotensin receptor family protein. These interactions are involved in signaling that modulates both blood vessel constriction and blood pressure.]
Anion Transporter Binding	NCIT_C40472	[Anion Transporter Binding involves temporary non-covalent interaction of a molecule through intermolecular physical forces of attraction with an anion transporter protein that moves the bound ion carrying a negative charge across a cell membrane with or against a concentration gradient.]
Cutaneous Melanoma cM1c TNM Finding v7	NCIT_C88410	[Cutaneous melanoma with metastases to all other visceral sites associated with normal serum lactate dehydrogenase (LDH) or distant metastases to any site associated with an elevated serum LDH. (from AJCC 7th Ed.)]
Harlequin Reaction	NCIT_C112829	[Transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants.]
ZIM2 wt Allele	NCIT_C112868	[Human ZIM2 wild-type allele is located in the vicinity of 19q13.4 and is approximately 66 kb in length. This allele, which encodes zinc finger imprinted 2 protein, may be involved in the regulation of transcription.]
ZIM2 Gene	NCIT_C112867	[This gene may play a role in transcriptional regulation.]
Zinc Finger Imprinted 2	NCIT_C112869	[Zinc finger imprinted 2 (527 aa, ~61 kDa) is encoded by the human ZIM2 gene. This protein may play a role in gene expression.]
Spontaneous Preterm Birth	NCIT_C112864	[Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes.]