alpha 1-antitrypsin deficiency Gene Set

Dataset GAD Gene-Disease Associations
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)
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Genes

2 genes associated with the disease alpha 1-antitrypsin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1