alpha 1-antitrypsin deficiency Gene Set

Dataset DISEASES Text-mining 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)
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Genes

91 genes co-occuring with the disease alpha 1-antitrypsin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 2.73685
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 2.18235
ELANE elastase, neutrophil expressed 1.99132
ADRA1D adrenoceptor alpha 1D 1.92529
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 1.71317
TMBIM4 transmembrane BAX inhibitor motif containing 4 1.70042
ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 1.1422
PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z 1.11645
SLPI secretory leukocyte peptidase inhibitor 1.09629
SERPINA13P serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene 0.986428
PRTN3 proteinase 3 0.952856
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 0.853631
SYVN1 synovial apoptosis inhibitor 1, synoviolin 0.821257
SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha 0.811821
UBE2G1 ubiquitin-conjugating enzyme E2G 1 0.798282
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.772479
PIM3 Pim-3 proto-oncogene, serine/threonine kinase 0.755342
HYKK hydroxylysine kinase 0.740299
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.716828
UBE2G2 ubiquitin-conjugating enzyme E2G 2 0.695504
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 0.686691
GGT1 gamma-glutamyltransferase 1 0.683493
GC group-specific component (vitamin D binding protein) 0.677504
HFE hemochromatosis 0.661594
TTR transthyretin 0.652484
CBR3 carbonyl reductase 3 0.646953
ATF6 activating transcription factor 6 0.644981
SLC38A4 solute carrier family 38, member 4 0.641039
EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 0.636708
ORM2 orosomucoid 2 0.616703
AFP alpha-fetoprotein 0.536183
SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 0.533088
CXCL8 chemokine (C-X-C motif) ligand 8 0.530381
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 0.527676
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.506507
ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 0.494648
IREB2 iron-responsive element binding protein 2 0.472604
GGT2 gamma-glutamyltransferase 2 0.465416
MLX MLX, MAX dimerization protein 0.46466
CANX calnexin 0.461639
CD79A CD79a molecule, immunoglobulin-associated alpha 0.458619
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 0.447687
KRT18 keratin 18, type I 0.4443
VIMP VCP-interacting membrane selenoprotein 0.439786
BPI bactericidal/permeability-increasing protein 0.439034
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 0.437906
ALB albumin 0.437154
SFTPB surfactant protein B 0.420641
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 0.418768
DYNLL1 dynein, light chain, LC8-type 1 0.418019
MPO myeloperoxidase 0.41465
PIM2 Pim-2 proto-oncogene, serine/threonine kinase 0.402692
WRAP73 WD repeat containing, antisense to TP73 0.398589
ELN elastin 0.397471
MMP26 matrix metallopeptidase 26 0.389281
CTSG cathepsin G 0.385565
MANBA mannosidase, beta A, lysosomal 0.373328
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.350452
ADAM17 ADAM metallopeptidase domain 17 0.330295
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 0.304142
HAMP hepcidin antimicrobial peptide 0.302337
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 0.301976
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4 0.295851
TFEB transcription factor EB 0.293334
XBP1 X-box binding protein 1 0.291898
JAG1 jagged 1 0.285444
AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase 0.27794
THEM4 thioesterase superfamily member 4 0.275445
SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene) 0.263722
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.263368
ATP7B ATPase, Cu++ transporting, beta polypeptide 0.255241
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 0.252774
GSTP1 glutathione S-transferase pi 1 0.25207
GSTA1 glutathione S-transferase alpha 1 0.25207
CRP C-reactive protein, pentraxin-related 0.249608
AZU1 azurocidin 1 0.244345
REXO1L1P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene 0.236312
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.236312
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 0.234225
GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) 0.232142
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.226952
ALPPL2 alkaline phosphatase, placental-like 2 0.222822
ALPP alkaline phosphatase, placental 0.222479
ALPL alkaline phosphatase, liver/bone/kidney 0.222136
GSTM3 glutathione S-transferase mu 3 (brain) 0.210925
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.206913
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 0.194865
ATM ATM serine/threonine kinase 0.192344
LBP lipopolysaccharide binding protein 0.185016
CTSS cathepsin S 0.166995
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 0.164571