KRIT1 wt Allele

Preferred Label : KRIT1 wt Allele;

NCIt synonyms : CAM; CCM1 wt Allele; KRIT1, Ankyrin Repeat Containing wt Allele; CCM1; Cerebral Cavernous Malformations 1 Gene;

NCIt definition : Human KRIT1 wild-type allele is located within 7q21-q22 and is approximately 102 kb in length. This allele, which encodes Krev interaction trapped protein 1, may play a role in integrin signaling modulation. Mutations in the gene, which encode for products that terminate prematurely, are a factor in familial cerebral cavernous malformations.;

GenBank Accession Number : NM_001013406;

Details

Origin ID

C52505;

UMLS CUI

C1706432;

Automatic exact mappings (from CISMeF team)
- Cataract 5, multiple types [OMIM Phenotype]
- Cell adhesion molecule [FMA entity]
- Computer aided manufacturing [UNESCO concept]
- Computer-Aided manufacturing [MeSH concept]
- Confusion Assessment Method (CAM) [LOINC component]
- KRIT1 ankyrin repeat containing [ORDO Gene]
- Krit1 ankyrin repeat-containing protein 1 [OMIM gene]
- complementary and integrative medicine [MedlinePlus Topic]
- complementary medicine [Q-code]
- complementary therapies [MeSH Descriptor]
False automatic mappings
- Cerebral cavernous malformations [OMIM Phenotype]
- Cerebrofacial arteriovenous metameric syndrome [ORDO Disease]
- Crassulacean Acid Metabolism [MeSH Descriptor]
OMIM relation
- Krit1 ankyrin repeat-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 7: 91520065-91472934 [NCIt concept]
gene_in_chromosomal_location
- 7q21-q22 [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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