Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Palmdelphin	NCIT_C105939	[Palmdelphin (551 aa, ~63 kDa) is encoded by the human PALMD gene. This protein may play a role in plasma membrane dynamics.]
Epigen	NCIT_C105920	[Epigen (154 aa, ~17 kDa) is encoded by the human EPGN gene. This protein plays a role in survival, proliferation, and migration of epidermal cells.]
5p15	NCIT_C105921	[A chromosome band present on 5p.]
A2M Gene	NCIT_C105922	[This gene has activity as a protease inhibitor.]
A2M wt Allele	NCIT_C105923	[Human A2M wild-type allele is located in the vicinity of 12p13.31 and is approximately 49 kb in length. This allele, which encodes alpha-2-macroglobulin protein, plays a role in various processes as a protease inhibitor. Mutations in this gene are associated with alpha-2-macroglobulin deficiency and susceptibility to Alzheimer disease.]
Alpha-2-Macroglobulin	NCIT_C105924	[Alpha-2-macroglobulin (1474 aa, ~163 kDa) is encoded by the human A2M gene. This protein has activity as a protease inhibitor.]
TMTC1 Gene	NCIT_C105925	[This gene is a mitochondrial integral membrane protein of unknown function.]
TMTC1 wt Allele	NCIT_C105926	[Human TMTC1 wild-type allele is located in the vicinity of 12p11.22 and is approximately 284 kb in length. This allele, which encodes transmembrane and TPR repeat-containing protein 1, a mitochondrial integral membrane protein of unknown function.]
Transmembrane and TPR Repeat-Containing Protein 1	NCIT_C105927	[Transmembrane and TPR repeat-containing protein 1 (882 aa, ~99 kDa) is encoded by the human TMTC1 gene. This protein is a mitochondrial integral membrane protein of unknown function.]
EDNRB Gene	NCIT_C105928	[This gene is involved in cell signaling.]
EDNRB wt Allele	NCIT_C105929	[Human EDNRB wild-type allele is located in the vicinity of 13q22 and is approximately 24 kb in length. This allele, which encodes endothelin receptor type B protein, plays a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. Mutations in this gene are associated with ABCD syndrome, Waardenburg syndrome, type 4A, and susceptibility to Hirschsprung disease 2.]
Melanogenesis Pathway	NCIT_C91468
Arf6 Trafficking Pathway	NCIT_C91543
Endothelin Pathway	NCIT_C91580
Blepharoconjunctivitis	NCIT_C34430	[Inflammation of both the eyelids and the conjunctiva.]
WHODAS 2.0 12+24-item Version Interviewer-administered - Standing Up From Sitting Down	NCIT_C130871	[World Health Organization Disability Assessment Schedule 2.0 12+24-item Version Interviewer-administered (WHODAS 2.0 12+24-item Version Interviewer-administered) In the past 30 days, how much difficulty did you have in: Standing up from sitting down?]
WHODAS 2.0 12 24-item Version Interviewer-administered Questionnaire Question	NCIT_C130303	[A question associated with the WHODAS 2.0 12+24-item Version Interviewer-administered questionnaire.]
Blind Loop Syndrome	NCIT_C34431	[A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.]
WHODAS 2.0 12+24-item Version Interviewer-administered - Moving Around Inside Your Home	NCIT_C130872	[World Health Organization Disability Assessment Schedule 2.0 12+24-item Version Interviewer-administered (WHODAS 2.0 12+24-item Version Interviewer-administered) In the past 30 days, how much difficulty did you have in: Moving around inside your home?]
Bone Development Disorder	NCIT_C34432	[Any disorder of development of the bone.]