Source: GENOMICS_ENGLAND

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: C0024115
Disease: Lung diseases
Lung diseases
group 0.600 limited 0.983 0 0 1982 2019
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.530 limited 1.000 0 0 2005 2019
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.510 limited 1.000 0 0 2004 2017
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.370 strong 1.000 1 0 2007 2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.330 limited 1.000 0 0 2007 2019
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.320 strong 1.000 1 0 1999 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.320 limited 1.000 0 0 2005 2012
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.310 strong 1.000 1 0 1996 2017
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.310 limited 1.000 0 0 2006 2006
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.310 limited 1.000 0 0 2017 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.310 limited 1.000 0 0 2014 2014
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 0.743 0.385 1.4E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 strong 1.000 1 0 2002 2002
Entrez Id: 255520
Gene Symbol: ELMOD2
ELMOD2
ELMO domain containing 2 0.890 0.038 0.42
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 1.000 1 0 2006 2006
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
dedicator of cytokinesis 8 0.578 0.731 1.5E-11
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1
dynein axonemal light chain 1 0.682 0.500 8.9E-03
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4
latent transforming growth factor beta binding protein 4 0.604 0.654 0.50
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1
dynein axonemal assembly factor 1 0.633 0.654 8.5E-12
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
paired like homeobox 2B 0.565 0.731 0.94
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
endothelin 3 0.608 0.577 2.5E-02
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
dynein axonemal intermediate chain 2 0.666 0.500 9.5E-13
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
radial spoke head component 9 0.659 0.615 2.4E-09
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C0024115
Disease: Lung diseases
Lung diseases
group 0.300 limited 0 0