NGF wt Allele - CISMeF

Preferred Label : NGF wt Allele;

NCIt synonyms : Nerve Growth Factor (Beta Polypeptide) wt Allele; HSAN5; NGFB; Beta-NGF;

NCIt definition : Human NGF wild-type allele is located in the vicinity of 1p13.1 and is approximately 52 kb in length. This allele, which encodes beta-nerve growth factor protein, is involved in the modulation of both the growth and the differentiation of neurons. Mutation of the gene is associated with hereditary sensory and autonomic neuropathy type 5.;

GenBank Accession Number : NM_002506;

Details

Origin ID

C105375;

UMLS CUI

C3541297;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Nerve growth factor [OMIM gene]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- nerve growth factor [ORDO Gene]
OMIM relation
- Nerve growth factor [OMIM gene]
See also inter- (CISMeF)
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.1 [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
- Erk1/Erk2 MAPK Signaling Pathway [NCIt concept]
- MAP Kinase Downregulation Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- NTRK1/PI3K/PLC-Gamma Signaling Pathway [NCIt concept]
- Nerve Growth Factor Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Neurotrophic Factor-Mediated NTRK1 Signaling Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Trka Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Neural Development [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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