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: 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: 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: 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: 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: 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
Entrez Id: 629
Gene Symbol: CFB
CFB
complement factor B 0.532 0.769 4.7E-16
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 moderate 1.000 1 0 1972 1972
Entrez Id: 718
Gene Symbol: C3
C3
complement C3 0.445 0.885 0.90
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 1972 1972
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: 721
Gene Symbol: C4B
C4B
complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 1992 1992
Entrez Id: 714
Gene Symbol: C1QC
C1QC
complement C1q C chain 0.751 0.423 4.9E-02
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 731
Gene Symbol: C8A
C8A
complement C8 alpha chain 0.821 0.192 6.6E-16
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 1998 1998
Entrez Id: 735
Gene Symbol: C9
C9
complement C9 0.619 0.692 1.6E-24
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.310 strong 1.000 1 0 1998 1999
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: 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: 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
Entrez Id: 4179
Gene Symbol: CD46
CD46
CD46 molecule 0.477 0.808 4.7E-07
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 732
Gene Symbol: C8B
C8B
complement C8 beta chain 0.760 0.269 2.3E-19
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 716
Gene Symbol: C1S
C1S
complement C1s 0.705 0.462 6.8E-04
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 2010 2010
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: 3075
Gene Symbol: CFH
CFH
complement factor H 0.441 0.885 0.86
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group 0.300 strong 1.000 1 0 2014 2014
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: 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