Familial Encephalopathy With Neuroserpin Inclusion Bodies Gene Set

Dataset	DisGeNET 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	https://www.disgenet.org/browser/0/1/0/C1858680
Similar Terms
Downloads & Tools

Genes

7 genes associated with the disease Familial Encephalopathy With Neuroserpin Inclusion Bodies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol	Name
HSP90B1	heat shock protein 90kDa beta (Grp94), member 1
HSPA5	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
MAPT	microtubule-associated protein tau
PSEN1	presenilin 1
PSEN2	presenilin 2
SERPINA1	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINI1	serpin peptidase inhibitor, clade I (neuroserpin), member 1