PKD1 Gene - CISMeF

Preferred Label : PKD1 Gene;

NCIt synonyms : Polycystic Kidney Disease 1 (Autosomal Dominant) Gene;

NCIt related terms : PKD1;

CISMeF acronym : PKD1;

NCIt definition : This gene plays a role in kidney development.;

Détails

Origin ID

C75894;

UMLS CUI

C1418599;

Automatic exact mappings (from CISMeF team)
- PKD1 gene [LOINC component]
- Polycystic kidney disease 1 with or without polycystic liver disease [OMIM Phenotype]
- Polycystin 1 [OMIM gene]
- polycystic kidney disease 1 [DO Concept]
- polycystic kidney, autosomal dominant [MeSH Descriptor]
- polycystin 1, transient receptor potential channel interacting [ORDO Gene]
HGNC gene
- polycystin 1, transient receptor potential channel interacting [HGNC gene]
OMIM relation
- Polycystin 1 [OMIM gene]
See also inter- (CISMeF)
- Polycystic kidney disease 1 with or without polycystic liver disease [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PKD1 gene [LOINC component]
- Polycystin 1 [OMIM gene]
- polycystin 1, transient receptor potential channel interacting [HGNC gene]
gene_encodes_gene_product
- Polycystin-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Organogenesis [NCIt concept]
genetic_biomarker_related_to
- Autosomal Dominant Polycystic Kidney Disease Type I [NCIt concept]
- Polycystin-1 Measurement [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients