BBS9 wt Allele

Preferred Label : BBS9 wt Allele;

NCIt synonyms : D1; B1; Bardet-Biedl Syndrome 9 wt Allele; PTHB1; Parathyroid Hormone Responsive B1 Gene; PTH-Responsive B1 Gene; Parathyroid Hormone-Responsive B1 Gene; C18;

NCIt definition : Human BBS9 wild-type allele is located in the vicinity of 7p14 and is approximately 477 kb in length. This allele, which encodes protein PTHB1, is involved in ciliogenesis. Mutation of both copies of this gene is associated with Bardet-Biedl syndrome 9.;

NCIt note : There is a report of a chromosomal aberration involving the BBS9 gene and the PKD1L1 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : XM_005249700;

Details

Origin ID

C114661;

UMLS CUI

C3889128;

Automatic exact mappings (from CISMeF team)
- Apical segmental bronchus [FMA entity]
- Bardet-Biedl syndrome 9 [ORDO Gene]
- Bardet-Biedl syndrome 9 [HGNC gene]
- Leiomodin 1 [OMIM gene]
- Membrane-spanning 4 domains, subfamily a, member 1 [OMIM gene]
- Parathyroid hormone-responsive b1 gene [OMIM gene]
- first diagonal artery [Radlex concept]
- leiomodin 1 [ORDO Gene]
- membrane spanning 4-domains A1 [ORDO Gene]
OMIM relation
- Parathyroid hormone-responsive b1 gene [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Surface Extension [NCIt concept]

Keyword's position in hierarchy(ies) :

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