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: 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: 966
Gene Symbol: CD59
CD59 		CD59 molecule (CD59 blood group) 0.469 0.808 0.61
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 715
Gene Symbol: C1R
C1R 		complement C1r 0.638 0.654 0.78
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 712
Gene Symbol: C1QA
C1QA 		complement C1q A chain 0.623 0.654 3.8E-03
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 81494
Gene Symbol: CFHR5
CFHR5 		complement factor H related 5 0.659 0.385 2.1E-32
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 1604
Gene Symbol: CD55
CD55 		CD55 molecule (Cromer blood group) 0.510 0.808 5.7E-12
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 2017 2017
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