alpha 1-Antitrypsin Deficiency Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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

25 genes associated with the alpha 1-Antitrypsin Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CRP C-reactive protein, pentraxin-related
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
GSTP1 glutathione S-transferase pi 1
HFE hemochromatosis
HYKK hydroxylysine kinase
IL10 interleukin 10
IREB2 iron-responsive element binding protein 2
MAN1B1 mannosidase, alpha, class 1B, member 1
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP3 matrix metallopeptidase 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SFTPB surfactant protein B
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor