PKHD1 Gene - CISMeF

Preferred Label : PKHD1 Gene;

NCIt synonyms : PKHD1, Fibrocystin/Polyductin Gene; PKHD1;

CISMeF acronym : PKHD1;

NCIt definition : This gene may be involved in signaling and differentiation of the collecting duct and biliary system.;

NCI Metathesaurus CUI : CL552124;

Details

Origin ID

C150298;

UMLS CUI

C1418605;

Automatic exact mappings (from CISMeF team)
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- PKHD1 gene [LOINC component]
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- autosomal recessive polycystic kidney disease [DO Concept]
HGNC gene
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
OMIM relation
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
- PKHD1 gene [LOINC component]
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
gene_encodes_gene_product
- Fibrocystin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Stimulation of Cell Proliferation [NCIt concept]
genetic_biomarker_related_to
- Autosomal Recessive Polycystic Kidney Disease [NCIt concept]

Keyword's position in hierarchy(ies) :

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