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: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 None 0.979 2327 632 1989 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.700 moderate 0.952 21 3 2000 2019
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.600 None 1.000 17 0 2005 2019
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
dynactin subunit 4 0.472 0.846 0.73
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.540 None 1.000 4 1 2012 2019
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.390 None 0.909 11 1 2004 2017
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.370 None 1.000 7 1 2006 2019
Entrez Id: 22802
Gene Symbol: CLCA4
CLCA4
chloride channel accessory 4 0.729 0.385 7.0E-15
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.340 None 1.000 4 0 2004 2015
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
TNF receptor superfamily member 1A 0.409 0.923 0.99
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.310 None 1.000 1 0 2006 2006
Entrez Id: 2212
Gene Symbol: FCGR2A
FCGR2A
Fc fragment of IgG receptor IIa 0.480 0.769 2.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 6804
Gene Symbol: STX1A
STX1A
syntaxin 1A 0.621 0.654 0.98
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.310 None 1.000 1 2 2013 2013
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
serine protease 1 0.563 0.692 4.1E-11
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.240 None 1.000 5 0 1996 2019
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
chloride voltage-gated channel 2 0.626 0.462 5.5E-12
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.230 None 1.000 4 0 1996 2004
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
mucin 2, oligomeric mucus/gel-forming 0.486 0.808 9.4E-10
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.230 None 1.000 3 0 1997 2006
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
mucin 1, cell surface associated 0.384 0.885 1.9E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.210 None 1.000 2 0 2002 2009
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
mannose binding lectin 2 0.390 0.846 2.7E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.200 None 0.913 23 2 1999 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.200 None 0.957 23 1 1991 2019
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3
solute carrier family 9 member A3 0.612 0.615 0.98
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.190 None 1.000 9 1 2006 2018
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.160 None 1.000 6 2 1998 2019
Entrez Id: 4585
Gene Symbol: MUC4
MUC4
mucin 4, cell surface associated 0.506 0.769 2.8E-54
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.120 None 1.000 2 2 2007 2015
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
C-X-C motif chemokine ligand 8 0.310 0.962 2.7E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 0.962 80 3 1992 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 0.970 33 0 1993 2019
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 0.962 26 0 1992 2019
Entrez Id: 54498
Gene Symbol: SMOX
SMOX
spermine oxidase 0.603 0.769 0.40
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 0.880 25 0 1990 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
interleukin 1 beta 0.276 0.962 0.13
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 1.000 18 2 1996 2019