Alpha 1-Antitrypsin Deficiency Gene Set

Dataset DisGeNET 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)
External Link https://www.disgenet.org/browser/0/1/0/C0221757
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Genes

67 genes associated with the disease Alpha 1-Antitrypsin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACRC acidic repeat containing
ADRA1D adrenoceptor alpha 1D
AMELX amelogenin, X-linked
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase
ATF6 activating transcription factor 6
ATP7B ATPase, Cu++ transporting, beta polypeptide
BPI bactericidal/permeability-increasing protein
CAT catalase
CELA1 chymotrypsin-like elastase family, member 1
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
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DBP D site of albumin promoter (albumin D-box) binding protein
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11
ELANE elastase, neutrophil expressed
ELN elastin
EYS eyes shut homolog (Drosophila)
FEV FEV (ETS oncogene family)
GC group-specific component (vitamin D binding protein)
GSTP1 glutathione S-transferase pi 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAMP hepcidin antimicrobial peptide
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
HFE hemochromatosis
IDO1 indoleamine 2,3-dioxygenase 1
IL10 interleukin 10
IL17D interleukin 17D
IL27 interleukin 27
IREB2 iron-responsive element binding protein 2
KLF10 Kruppel-like factor 10
KLF9 Kruppel-like factor 9
MAN1B1 mannosidase, alpha, class 1B, member 1
MMP12 matrix metallopeptidase 12
MPO myeloperoxidase
MSC musculin
MVK mevalonate kinase
MYDGF myeloid-derived growth factor
MYO15A myosin XVA
NPC1 Niemann-Pick disease, type C1
OTOA otoancorin
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PROP1 PROP paired-like homeobox 1
PRTN3 proteinase 3
SCO2 SCO2 cytochrome c oxidase assembly protein
SELENOS selenoprotein S
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SFXN1 sideroflexin 1
SMS spermine synthase
SVIP small VCP/p97-interacting protein
TERT telomerase reverse transcriptase
TFEB transcription factor EB
TGFB1 transforming growth factor, beta 1
TGM5 transglutaminase 5
TMBIM4 transmembrane BAX inhibitor motif containing 4
TNF tumor necrosis factor
TWIST1 twist family bHLH transcription factor 1
UBB ubiquitin B
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
VWF von Willebrand factor