PKD1 wt Allele

Preferred Label : PKD1 wt Allele;

NCIt synonyms : Polycystic Kidney Disease 1 (Autosomal Dominant) wt Allele; Polycystin 1 Gene; PBP;

NCIt definition : Human PKD1 wild-type allele is located in the vicinity of 16p13.3 and is approximately 47 kb in length. This allele, which encodes polycystin-1 protein, is involved in the development of the kidney. Mutations in the gene are associated with polycystic kidney disease autosomal dominant type 1.;

GenBank Accession Number : L33243;

Details

Origin ID

C75895;

UMLS CUI

C2698695;

OMIM relation
- Polycystin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Polycystic Kidney Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Organogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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