Source: LHGDN

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 78 0 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 3 0 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 2 0 2005 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 1 0 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 2 0 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 1 0 2004 2015
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: 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: 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 1 0 2002 2009
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 1 0 1991 2019
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 1 0 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 1 0 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 5 0 1992 2019
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 1.000 2 0 1992 2008
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 0.909 2 0 1998 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 1.000 1 0 1999 2019
Entrez Id: 4353
Gene Symbol: MPO
MPO
myeloperoxidase 0.377 0.923 7.1E-15
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.100 None 1.000 1 0 1996 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 1 0 1993 2019
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
adrenoceptor beta 2 0.442 0.923 0.53
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.090 None 1.000 3 0 2002 2018
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
serine peptidase inhibitor Kazal type 1 0.492 0.808 0.31
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.090 None 1.000 2 0 1990 2016
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.090 None 1.000 1 0 2007 2020
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
interleukin 17A 0.324 0.923 4.3E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.080 None 1.000 1 0 2007 2018
Entrez Id: 51297
Gene Symbol: BPIFA1
BPIFA1
BPI fold containing family A member 1 0.617 0.577 1.2E-08
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.080 None 0.875 1 0 2007 2019
Entrez Id: 7097
Gene Symbol: TLR2
TLR2
toll like receptor 2 0.361 0.923 1.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.070 None 1.000 1 0 2004 2019
Entrez Id: 1179
Gene Symbol: CLCA1
CLCA1
chloride channel accessory 1 0.659 0.538 3.3E-09
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.070 None 1.000 1 0 1998 2019