NF1 Gene - CISMeF

Preferred Label : NF1 Gene;

NCIt synonyms : Neurofibromin 1 Gene;

NCIt related terms : NF1;

CISMeF acronym : NF1;

NCIt definition : This gene plays a role in signal transduction and cytoskeletal remodeling.;

Détails

Origin ID

C17424;

UMLS CUI

C0085113;

Automatic exact mappings (from CISMeF team)
- NF1 gene [LOINC component]
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type I [OMIM Phenotype]
- Neurofibromin 1 [OMIM gene]
- genes, neurofibromatosis 1 [MeSH Descriptor]
- genes, neurofibromatosis 1 [MeSH concept]
- neurofibromatosis 1 [DO Concept]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromin 1 [ORDO Gene]
- neurofibromin 1 [MeSH Descriptor]
HGNC gene
- neurofibromin 1 [HGNC gene]
OMIM relation
- Neurofibromatosis, type I [OMIM Phenotype]
See also inter- (CISMeF)
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NF1 gene [LOINC component]
- Neurofibromin 1 [OMIM gene]
- genes, neurofibromatosis 1 [MeSH concept]
- genes, neurofibromatosis 1 [MeSH Descriptor]
- neurofibromin 1 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Neurofibromin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious Inactivating NF1 Gene Mutation [NCIt concept]
- Deleterious NF1 Gene Mutation [NCIt concept]
- NF1 Gene Deletion [NCIt concept]
- NF1 Gene Frameshift Mutation [NCIt concept]
- NF1 Gene Inactivation [NCIt concept]
- NF1 Gene Mutation [NCIt concept]
- NF1 Gene Nonsense Mutation [NCIt concept]
- NF1 Gene Rearrangement [NCIt concept]
- NF1 NM_001042492.2:c.4394A>G [NCIt concept]
- NF1 NM_001042492.2:c.6926del [NCIt concept]
- NF1 NP_001035957.1:p.N1465S [NCIt concept]
- NF1 NP_001035957.1:p.S2309Cfs*10 [NCIt concept]
- NF1 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Mesenchymal Glioblastoma [NCIt concept]
- NF1-Associated Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Neurofibroma [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
gene_mapped_to_disease
- Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential [NCIt concept]
- Bladder Neurofibroma [NCIt concept]
- Breast Neurofibroma [NCIt concept]
- Cardiac Neurofibroma [NCIt concept]
- Cellular Neurofibroma [NCIt concept]
- Childhood Neurofibroma [NCIt concept]
- Diffuse Neurofibroma [NCIt concept]
- Epithelioid Neurofibroma [NCIt concept]
- Esophageal Neurofibroma [NCIt concept]
- Gallbladder Neurofibroma [NCIt concept]
- Mediastinal Neurofibroma [NCIt concept]
- Melanotic Neurofibroma [NCIt concept]
- NF1-Associated Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Neurofibroma [NCIt concept]
- Neurofibroma with Atypia [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas [NCIt concept]
- Oral Cavity Neurofibroma [NCIt concept]
- Orbital Neurofibroma [NCIt concept]
- Pacinian Neurofibroma [NCIt concept]
- Penile Neurofibroma [NCIt concept]
- Plexiform Neurofibroma [NCIt concept]
- Recurrent Neurofibromatosis Type 1 [NCIt concept]
- Refractory Neurofibromatosis Type 1 [NCIt concept]
- Sinonasal Neurofibroma [NCIt concept]
- Skin Neurofibroma [NCIt concept]
- Solitary Neurofibroma [NCIt concept]
- Spinal Cord Neurofibroma [NCIt concept]
- Tongue Neurofibroma [NCIt concept]
- Unresectable Plexiform Neurofibroma [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
genetic_biomarker_related_to
- NF1 Gene Alteration Positive [NCIt concept]
- NF1 Gene Mutation Negative [NCIt concept]
- NF1 Mutation Analysis [NCIt concept]
- NF1 Mutation Analysis Testing Method [NCIt concept]
- NF1 Mutation Analysis Was Not Performed [NCIt concept]
- NF1 Mutation Analysis Was Performed [NCIt concept]
- NF1 Mutation Positive Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- NF1 Positive [NCIt concept]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Not Known if NF1 Mutation Analysis Was Performed [NCIt concept]
- RAS/BRAF/NF1 Triple Wild Type [NCIt concept]
- Specify NF1 Mutation [NCIt concept]
- Was NF1 Mutation Analysis Performed Question [NCIt concept]

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