Search for a gene
NF1 - neurofibromin 1
- Synonym(s) : neurofibromatosis, von Recklinghausen disease, Watson disease
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 17q11.2
- OMIM: 613113
- HGNC: 7765
- UniProtKB: P21359
- Genatlas: NF1
- GenCC: NF1
- Ensembl: ENSG00000196712
- IUPHAR-DB: -
- Reactome: P21359
- LOVD: NF1
Diseases list
- Disease-causing germline mutation(s) in Hereditary pheochromocytoma-paraganglioma
ORPHA:29072 
- Disease-causing germline mutation(s) in Neurofibromatosis-Noonan syndrome
ORPHA:638 - Disease-causing germline mutation(s) (loss of function) in Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
ORPHA:363700 - Disease-causing somatic mutation(s) in Alveolar rhabdomyosarcoma
ORPHA:99756 - Disease-causing somatic mutation(s) in Embryonal rhabdomyosarcoma
ORPHA:99757 - Disease-causing somatic mutation(s) in Juvenile myelomonocytic leukemia
ORPHA:86834 - Disease-causing somatic mutation(s) in Pleomorphic rhabdomyosarcoma
ORPHA:293199 - Role in the phenotype of 17q11.2 microduplication syndrome
ORPHA:139474 - Role in the phenotype of 17q11 microdeletion syndrome
ORPHA:97685
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.