Neurofibromin - CISMeF

Preferred Label : Neurofibromin;

NCIt synonyms : Neurofibromatosis-Related Protein NF-1; NF1;

NCIt definition : Neurofibromin (2839 aa, 319 kDa) is encoded by the human NF1 gene. This protein plays a role in the regulation of Ras signaling.;

Details

Origin ID

C17412;

UMLS CUI

C4316858;

Currated CISMeF NLP mapping
- Neurofibromin (substance) [SNOMED CT concept]
OMIM relation
- Neurofibromatosis, type I [OMIM Phenotype]
See also inter- (CISMeF)
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- NF1 Gene [NCIt concept]
- Signaling Pathway Gene [NCIt concept]
gene_product_has_biochemical_function
- Signaling Protein [NCIt concept]
gene_product_has_gene_product_variant
- NF1 NP_001035957.1:p.N1465S [NCIt concept]
- NF1 NP_001035957.1:p.S2309Cfs*10 [NCIt concept]
- NF1 Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- Nuclear Localization Signal [NCIt concept]
gene_product_is_element_in_pathway
- ATF-2 Transcription Factor Signaling Pathway [NCIt concept]
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Syndecan-2-Mediated Signaling Pathway [NCIt concept]
- hSWI-SNF Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Neurofibromatosis Type 1 [NCIt concept]
gene_product_plays_role_in_biological_process
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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