Source: CLINVAR

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 0.979 532 560 1989 2020
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 0 1 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 0 1 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 0 1 1998 2019