alpha 1-antitrypsin deficiency Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (Human Disease Ontology, DOID_13372)
Similar Terms
Downloads & Tools

Genes

1 genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1