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: 10877
Gene Symbol: CFHR4
CFHR4 		complement factor H related 4 0.839 0.346 2.4E-18
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 0 0
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: 3426
Gene Symbol: CFI
CFI 		complement factor I 0.569 0.731 3.5E-08
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.310 strong 0.500 1 0 2013 2016
Entrez Id: 5199
Gene Symbol: CFP
CFP 		complement factor properdin 0.573 0.692 0.69
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 1980 1980
Entrez Id: 8547
Gene Symbol: FCN3
FCN3 		ficolin 3 0.678 0.500 3.8E-03
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 limited 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: 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: 7056
Gene Symbol: THBD
THBD 		thrombomodulin 0.457 0.769 5.4E-02
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 limited 0 0