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: 710
Gene Symbol: SERPING1
SERPING1 		serpin family G member 1 0.507 0.769 0.96
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.320 strong 1.000 1 0 1989 2018
Entrez Id: 717
Gene Symbol: C2
C2 		complement C2 0.617 0.692 1.3E-16
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.330 strong 1.000 1 0 1985 2010
Entrez Id: 720
Gene Symbol: C4A
C4A 		complement C4A (Rodgers blood group) 0.563 0.769 1.5E-11
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 1675
Gene Symbol: CFD
CFD 		complement factor D 0.587 0.731 6.7E-06
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 729
Gene Symbol: C6
C6 		complement C6 0.700 0.615 5.9E-22
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 727
Gene Symbol: C5
C5 		complement C5 0.550 0.731 8.1E-24
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 10747
Gene Symbol: MASP2
MASP2 		mannan binding lectin serine peptidase 2 0.582 0.692 3.0E-14
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 730
Gene Symbol: C7
C7 		complement C7 0.751 0.423 1.1E-14
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.420 strong 1.000 1 0 1977 2004