Complement component deficiency

Disease Term Disease ID Gene Symbol References
COMPLEMENT FACTOR B DEFICIENCY C3809950 CFB 4109808
CYP21A2
Complement Component 4, Partial Deficiency Of C1852700 SERPING1 7883978
Complement Component C1s Deficiency C3151078 C1S 20727163
KMT2D
COMPLEMENT COMPONENT 2 DEFICIENCY C3150275 C2 9670930, 8621452, 7901282, 1577763
CYP21A2 1577763
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE C3151071 C3 4117597, 18796626, 15781264, 26471127, 7961791
Complement Component 6 Deficiency C2676232 C6 12653841, 8690922, 9856498, 22288589, 9472666
C8B 7594510, 19434484, 14767900, 8098723
Complement Component 7 Deficiency C1864694 C7 15831990, 8871666, 9218625, 15554930, 9856499
Complement Factor D Deficiency C0398764 CFD 16527897, 29522842
Complement deficiency disease C0272242 CFB 4109808
SERPING1 7883978
C1QA 28601358
C1QB 12133956
C1QC 8630118
C1R 28544690
C1S 20727163
C2 7901282
C3 4117597
C4A 22482068
C4B 1569346
C5 25534848
C6 12653841
C7 15554930
C8A 9759902
C8B 19434484
C8G
C9 10072634
CD59 25716358
CD55 28657829
CFD 29522842
DNASE1L3
CFH 24722444
CFHR1
CFHR2
CFI 24142231
CD46 16621965
CFP 6903190
THBD
FCN3 25662573
SLC7A7
MASP2 24658431
CFHR4
CFHR3
CFHR5 28673452
Complement Component 4a Deficiency C3280642 C4A 22482068
Complement component 5 deficiency C0343047 C5 25534848
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I C3151081 C8A 9759902
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II C3151080 C8B 19434484
Complement Factor I (C3 inactivator) deficiency C3463916 FGA
FGB
FGG
CFI 12562389, 25988862, 17018561, 8613545, 24142231
Complement Factor H Deficiency C0398777 CFH 11170895, 11170896, 11158219, 9312129, 14978182, 24722444, 10803850, 16612335, 12020532
Immunodeficiency with factor I anomaly 200418 CFI