|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.
|SERPINA1||serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1||2.88009|