Source: CURATED

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 91 605 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 1 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: 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 1 0 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 2 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 1 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: 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 0 2013 2013
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 0 0 2005 2005
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