PKHD1 wt Allele

Preferred Label : PKHD1 wt Allele;

NCIt synonyms : Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive) Gene; Polycystic Kidney and Hepatic Disease 1 Gene; TIGM1; TIG Multiple Domains 1 Gene; PKHD1, Fibrocystin/Polyductin wt Allele; FCYT; ARPKD; FPC; Fibrocystin/Polyductin Complex Gene; PKD4;

NCIt definition : Human PKHD1 wild-type allele is located within 6p12.3-p12.2 and is approximately 473 kb in length. This allele, which encodes fibrocystin protein, may play a role in kidney and biliary development and in receptor signaling. Mutations in this gene are associated with autosomal recessive polycystic kidney disease (polycystic kidney and hepatic disease 1; polycystic kidney disease 4).;

NCI Metathesaurus CUI : CL552127;

GenBank Accession Number : AF480064;

Details

Origin ID

C150299;

UMLS CUI

C4723863;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Autosomal recessive polycystic kidney disease [ICD-11 More detail]
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- 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]
- ciliary pocket collar [GO term]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
- polycystin 2, transient receptor potential cation channel [ORDO Gene]
OMIM relation
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
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]

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