NPHS2 wt Allele

Preferred Label : NPHS2 wt Allele;

NCIt synonyms : NPHS2, Podocin Gene; PDCN; Nephrosis 2, Idiopathic, Steroid-Resistant (Podocin) Gene; NPHS2 Stomatin Family Member, Podocin wt Allele; SRN1;

NCIt definition : Human NPHS2 wild-type allele is located in the vicinity of 1q25.2 and is approximately 25 kb in length. This allele, which encodes podocin protein, is involved in glomerular function. Mutations in the gene are associated with nephrotic syndrome 2 (steroid-resistant nephrotic syndrome).;

NCI Metathesaurus CUI : CL1798748;

GenBank Accession Number : AJ279254;

Details

Origin ID

C190147;

UMLS CUI

C5780955;

False automatic mappings
- Nephrotic syndrome, type 2 [OMIM Phenotype]
OMIM relation
- Nphs2 stomatin family member, podocin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- NPHS2 stomatin family member, podocin [ORDO Gene]
- Nphs2 stomatin family member, podocin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q25.2 [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) :

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