Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.700 None 0.978 172 3 1978 2020
Entrez Id: 260431
Gene Symbol: COPD
COPD
Pulmonary disease, chronic obstructive, severe early-onset 0.456 0.885
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.100 None 1.000 22 0 2000 2019
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.100 None 0.923 13 0 1981 2019
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.030 None 1.000 3 0 1997 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.030 None 1.000 3 0 2003 2019
Entrez Id: 388007
Gene Symbol: SERPINA13P
SERPINA13P
serpin family A member 13, pseudogene 0.619 0.692
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.030 None 1.000 3 0 1995 2005
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.030 None 1.000 3 1 2005 2017
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
serpin family A member 3 0.486 0.846 8.8E-14
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.030 None 0.667 3 0 1985 1990
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
serpin family G member 1 0.507 0.769 0.96
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.020 None 1.000 2 0 2003 2011
Entrez Id: 146
Gene Symbol: ADRA1D
ADRA1D
adrenoceptor alpha 1D 0.636 0.731 4.0E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2
Gene Symbol: A2M
A2M
alpha-2-macroglobulin 0.529 0.769 4.5E-11
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.020 None 0.500 2 0 1981 1983
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.020 None 1.000 2 0 2015 2017
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.020 None 1.000 1 0 2007 2008
Entrez Id: 55829
Gene Symbol: SELENOS
SELENOS
selenoprotein S 0.628 0.615 1.4E-09
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 56886
Gene Symbol: UGGT1
UGGT1
UDP-glucose glycoprotein glucosyltransferase 1 0.682 0.385 5.2E-10
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
proteinase 3 0.503 0.808 3.8E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51643
Gene Symbol: TMBIM4
TMBIM4
transmembrane BAX inhibitor motif containing 4 0.743 0.500 3.9E-06
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 53342
Gene Symbol: IL17D
IL17D
interleukin 17D 0.464 0.808 0.20
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56005
Gene Symbol: MYDGF
MYDGF
myeloid derived growth factor 0.451 0.846 3.5E-06
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54738
Gene Symbol: FEV
FEV
FEV transcription factor, ETS family member 0.593 0.692 8.1E-03
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5292
Gene Symbol: PIM1
PIM1
Pim-1 proto-oncogene, serine/threonine kinase 0.482 0.769 0.85
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 51726
Gene Symbol: DNAJB11
DNAJB11
DnaJ heat shock protein family (Hsp40) member B11 0.751 0.346 0.23
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
disease 0.010 None 1.000 1 0 2017 2017