CSMD1 wt Allele

Preferred Label : CSMD1 wt Allele;

NCIt synonyms : KIAA1890; CUB and Sushi Multiple Domains 1 wt Allele;

NCIt definition : Human CSMD1 wild-type allele is located in the vicinity of 8p23.2 and is approximately 2,059 kb in length. This allele, which encodes CUB and sushi domain-containing protein 1, may be involved in the modulation of complement. Mutation or deletion of the gene is associated with invasive ductal breast carcinoma, colorectal adenocarcinoma and head and neck carcinomas.;

GenBank Accession Number : NM_033225;

PubMed : 20393555;

Details

Origin ID

C88932;

UMLS CUI

C2982397;

Automatic exact mappings (from CISMeF team)
- Cub and sushi multiple domains 1 [OMIM gene]
OMIM relation
- Cub and sushi multiple domains 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Colorectal Adenocarcinoma [NCIt concept]
- Head and Neck Carcinoma [NCIt concept]
- Invasive Breast Carcinoma of No Special Type [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Deletion Mutation [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients