G2Cdb::Human Disease report
- Disease id
- D00000248
- Name
- Netherton syndrome
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002531 | SNAP25 synaptosomal-associated protein, 25kDa |
Y | (16670861) | Deletion (D) | Y |
| G00002531 | SNAP25 synaptosomal-associated protein, 25kDa |
Y | (16225619) | Microinsertion (MI) | Y |
| G00002531 | SNAP25 synaptosomal-associated protein, 25kDa |
Y | (16120162) | Single nucleotide polymorphism (SNP) | Y |
| G00002531 | SNAP25 synaptosomal-associated protein, 25kDa |
Y | (15942217) | Insertion (I) | Y |
| G00002531 | SNAP25 synaptosomal-associated protein, 25kDa |
Y | (15656819) | Single nucleotide polymorphism (SNP) | Y |