C9orf72 Gene - CISMeF

Preferred Label : C9orf72 Gene;

NCIt synonyms : C9orf72-SMCR8 Complex Subunit Gene; C9orf72;

NCIt definition : This gene plays a role in the regulation of both cellular stress responses and autophagy.;

Details

Origin ID

C101398;

UMLS CUI

C1428691;

Automatic exact mappings (from CISMeF team)
- C9orf72-SMCR8 complex subunit [ORDO Gene]
Currated CISMeF NLP mapping
- C9orf72 gene [LOINC component]
- C9orf72-SMCR8 complex subunit [HGNC gene]
- Chromosome 9 open reading frame 72 [OMIM gene]
HGNC gene
- C9orf72-SMCR8 complex subunit [HGNC gene]
OMIM relation
- Chromosome 9 open reading frame 72 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- C9orf72 gene [LOINC component]
- C9orf72-SMCR8 complex subunit [HGNC gene]
- Chromosome 9 open reading frame 72 [OMIM gene]
gene_encodes_gene_product
- Guanine Nucleotide Exchange Factor C9orf72 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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