NPHS1 wt Allele

Preferred Label : NPHS1 wt Allele;

NCIt synonyms : Nephrin Gene; CNF; Nephrosis 1, Congenital, Finnish Type (Nephrin) Gene; NPHS1 Adhesion Molecule, Nephrin wt Allele; NPHS1, Nephrin Gene; NPHN;

NCIt definition : Human NPHS1 wild-type allele is located in the vicinity of 19q13.12 and is approximately 44 kb in length. This allele, which encodes nephrin protein, is involved in the maintenance of the slit diaphragm in the glomerulus and in smooth muscle cell development. Mutation of the gene is associated with nephrotic syndrome 1 (Finnish-type congenital nephrosis 1).;

NCI Metathesaurus CUI : CL1798669;

GenBank Accession Number : NM_004646;

Details

Origin ID

C189787;

UMLS CUI

C5702685;

False automatic mappings
- Nephrotic syndrome, type 1 [OMIM Phenotype]
OMIM relation
- Nephrin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- NPHS1 adhesion molecule, nephrin [ORDO Gene]
- Nephrin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Nephrin Signaling Pathway in the Kidney Podocyte [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients