Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
WT2 wt Allele	NCIT_C49436	[Human WT2 wild-type allele is located in the vicinity of 11p15.5 and its length has not been determined. This allele, which encodes an unknown protein, is putatively involved in the inhibition of cell growth. WT2 gene dysfunction is associated with nephroblastoma and Wiedemann-Beckwith syndrome.]
Day Times Nanomole Per Liter Per Gram	NCIT_C112260	[Days times nanomoles per liter, divided by grams.]
PPP2R1B wt Allele	NCIT_C49437	[Human PPP2R1B wild-type allele is located in the vicinity of 11q23.2 and is approximately 40 kb in length. This allele, which encodes serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform protein, plays a role in coordinating the assembly of the protein phosphatase 2A heterodimer. Functional PPP2R1B gene polymorphisms are associated with lung cancer.]
PPP2R1B Gene	NCIT_C24691	[This gene plays a role in the negative control of cell growth and division.]
Day Times Nanomole Per Liter Per Kilogram	NCIT_C112261	[Days times nanomoles per liter, divided by kilograms.]
EIPR1 wt Allele	NCIT_C49430	[Human EIPR1 wild-type allele is located in the vicinity of 2p25.3 and is approximately 189 kb in length. This allele, which encodes protein TSSC1, plays a role in the organization of chromatin.]
2p25.3	NCIT_C25998	[A chromosome band present on 2p]
PPP3CC wt Allele	NCIT_C49431	[Human PPP3CC wild-type allele is located in the vicinity of 8p21.3 and is approximately 100 kb in length. This allele, which encodes serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform protein, is involved in calcium-dependent, calmodulin-stimulated protein dephosphorylation. The PPP3CC gene is associated with susceptibility to schizophrenia.]
PPP3CC Gene	NCIT_C38526	[This gene is involved in the regulation of signal transduction.]
Psychosocial Assessment	NCIT_C126879	[The act of determining, usually through interviews and observation, the state of an individual's psychological state and social environment.]
Supportive Care	NCIT_C15747	[Supportive care is that which helps the patient and their family to cope with cancer and treatment of it from pre-diagnosis, through the process of diagnosis and treatment, to cure, continuing illness or death and into bereavement. It helps the patient to maximize the benefits of treatment and to live as well as possible with the effects of the disease. Supportive therapy may provide a patient with friendship, encouragement, practical advice such as access to community resources or how to develop a more active social life, vocational counseling, suggestions for minimizing friction with family members, and, above all, hope that the life of the patient may be improved. In all situations, supportive therapy involves the teaching of such life skills as managing medication, learning to socialize, handling finances, and getting a job.]
TSSC4 wt Allele	NCIT_C49432	[Human TSSC4 wild-type allele is located in the vicinity of 11p15.5 and is approximately 3 kb in length. This allele, which encodes protein TSSC4, is putatively involved in the inhibition of cell growth. The TSSC4 gene is located in a chromosomal region that is important with respect to tumor suppression. Alterations in this region are associated with many types of cancer such as breast, lung and ovarian cancers.]
TSSC4 Gene	NCIT_C20803	[This gene is involved in transcriptional regulation, genetic imprinting and silencing.]
11p15.5	NCIT_C13488	[A chromosome band present on 11p]
PPP2CA wt Allele	NCIT_C49433	[Human PPP2CA wild-type allele is located in the vicinity of 5q31.1 and is approximately 30 kb in length. This allele, which encodes serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform protein, plays a role in the dephosphorylation of phosphoproteins.]
PPP2CA Gene	NCIT_C20398	[This gene plays a role in the inhibition of the G2-M transition in the cell cycle.]
Congenital Disorder of Glycosylation Type Ij	NCIT_C126874	[A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPAGT1 gene, encoding UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase.]
Carbohydrate-Deficient Glycoprotein Syndrome	NCIT_C84615	[An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.]
Glycogen Storage Disease Type VI	NCIT_C126875	[An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The condition is characterized by mild-moderate hypoglycemia, growth retardation and hepatomegaly.]
Glycogen Storage Disease	NCIT_C61272	[An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.]