| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (Human Disease Ontology, DOID_0050831) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C536841 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Familial encephalopathy with neuroserpin inclusion bodies from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| SERPINI1 | serpin peptidase inhibitor, clade I (neuroserpin), member 1 | 2.88009 |
