Familial encephalopathy with neuroserpin inclusion bodies Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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://www.omim.org/entry/604218
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Genes

1 genes associated with the Familial encephalopathy with neuroserpin inclusion bodies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1