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: 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: 713
Gene Symbol: C1QB
C1QB 		complement C1q B chain 0.711 0.538 0.15
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 strong 1.000 1 0 2002 2002
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
Entrez Id: 3078
Gene Symbol: CFHR1
CFHR1 		complement factor H related 1 0.588 0.615 2.6E-08
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 0 0
Entrez Id: 733
Gene Symbol: C8G
C8G 		complement C8 gamma chain 1.000 0.077 2.7E-17
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 limited 0 0
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3 		complement factor H related 3 0.663 0.462 1.7E-11
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 moderate 0 0
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: 3080
Gene Symbol: CFHR2
CFHR2 		complement factor H related 2 0.769 0.346 1.5E-08
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group 0.300 limited 0 0