B9D2 wt Allele

Preferred Label : B9D2 wt Allele;

NCIt synonyms : MKS10; MKSR2; Stumpy, Mouse, Homolog of Gene; B9 Protein Domain 2 wt Allele; MGC4093; ICIS-1;

NCIt definition : Human B9D2 wild-type allele is located in the vicinity of 19q13.2 and is approximately 10 kb in length. This allele, which encodes B9 domain-containing protein 2, is involved in ciliogenesis. Mutation of the gene is associated with Meckel syndrome 10.;

GenBank Accession Number : BC004157;

Details

Origin ID

C113280;

UMLS CUI

C3812227;

Automatic exact mappings (from CISMeF team)
- B9 domain containing 2 [ORDO Gene]
- B9 domain-containing protein 2 [OMIM gene]
- Meckel syndrome, type 10 [OMIM Phenotype]
OMIM relation
- B9 domain-containing protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_plays_role_in_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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