NDP wt Allele - CISMeF

Preferred Label : NDP wt Allele;

NCIt synonyms : EVR2; ND; FEVR; Norrin Cystine Knot Growth Factor NDP wt Allele; NDP, Norrin Cystine Knot Growth Factor Gene; NORRIN; Exudative Vitreoretinopathy 2 (X-Linked) Gene; Norrie Disease (Pseudoglioma) Gene;

NCIt definition : Human NDP wild-type allele is located in the vicinity of Xp11.3 and is approximately 25 kb in length. This allele, which encodes norrin protein, is involved in G protein-coupled receptor-dependent activation of the Wnt signaling pathway. Mutations in the gene are associated with Norrie disease and X-linked exudative vitreoretinopathy.;

NCI Metathesaurus CUI : CL1926552;

GenBank Accession Number : X65882;

Details

Origin ID

C203900;

UMLS CUI

C5891006;

OMIM relation
- Norrin cystine knot growth factor ndp [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.3 [NCIt concept]
gene_plays_role_in_process
- Cytokine Receptor Activation [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Nervous System Development [NCIt concept]
- Sight [NCIt concept]

Keyword's position in hierarchy(ies) :

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