Complement deficiencies

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Complement component 2 deficiency
217000C3150275MONDO:0009006OMIM:217000
C2 Causal
11079100 15643297 1577763 22773339 24029428 32113979 34899688 7901282 8621452 9616367 9670930
CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets
CFB Unknown — Disgenet
Complement component 3 deficiency
280133C1332655MONDO:0013417
C3 Causal
1350678 15781264 1976733 22028381 4117597 7961791
ClinVar, Disgenet, GenCC, Orphanet, Open Targets
Complement component 3 deficiency, autosomal recessive
613779MESH:C565169
C3 Unknown
1350678 15781264 1976733 22028381 4117597 7961791
CTD, HPO, Open Targets
Complement component 4, partial deficiency of
120790C1852700MESH:C565168
SERPING1 Unknown
1597123 7883978
CTD, Disgenet, HPO, Open Targets
Complement component 4A deficiency
614380MESH:C565167MONDO:0013721
C4A Unknown
15294999 17503323 19279649 26814708 8473511 9796739
CTD, ClinVar, GWAS catalog, HPO, Open Targets
Complement component 4B deficiency
614379C5779962MONDO:0013720OMIM:614379
C4B Causal
10092831 12133986 12626442 15294999 19279649 3265961
CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets
Complement component 5 deficiency
609536C0343047MESH:C537005MONDO:0012295
C5 Causal
19375167 19414197 25132214 25534848 27026170 7730648
CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets
Complement component 6 deficiency
612446C2676232MESH:C567307MONDO:0012908
C6 Causal
12653841 15565285 17257682 23537992 24378253 8690922 9472666 9856498
CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets
C8B Causal — Disgenet
Complement component 7 deficiency
610102C1864694MESH:C566443MONDO:0012412
C7 Causal
1347491 15554930 16771861 17407100 6714987 7762578 8871666 8892662 9218625 9844043 9856499
CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets
Complement component 8 deficiency, type I
613790C3151081OMIM:613790
C8A Unknown — CTD, Disgenet, HPO
Complement component 8 deficiency, type II
613789C3151080OMIM:613789
C8B Unknown — CTD, Disgenet, HPO
Complement component 9 deficiency
613825MONDO:0013445
C9 Causal
10072634 9144525 9570574 9634479
ClinVar, HPO, Orphanet, Open Targets
Complement component C1S deficiency
613783C3151078MESH:C565170MONDO:0013419
C1S Causal
11390518
CTD, ClinVar, Disgenet, GenCC, HPO, Open Targets
KMT2D Causal — Disgenet
Complement Deficiencies
MONDO_0003832C0272242
C1QA Unknown
26032012 21654842 28601358 25133636 8840296 7594474
Open Targets
C1QB Unknown
17513176 24160257 2894352 25454803 9476130 12133956 23651859
Open Targets
C1QC Unknown
8630118 24157463 21654842 7900940
Open Targets
C1R Unknown
21784777 28544690 29795138 28711143 27745832
Open Targets
C1S Unknown
20727163 9856483 11390518 27745832
Open Targets
C2 Unknown
11079100 15643297 1577763 22773339 24029428 32113979 34899688 7901282 8621452 9616367 9670930
Disgenet, Open Targets
C3 Unknown
4117597 1976733 1350678 15781264
Open Targets
C4A Unknown
15294999 2295875 22482068
Open Targets
C4B Unknown
10092831 12133986 12626442 15294999 19279649 3265961 2788199 2355198 1569346 19062096
Disgenet, Open Targets
C5 Unknown
25534848 19375167 7730648
Open Targets
C6 Unknown
9472666 8690922 12653841
Open Targets
C7 Unknown
15554930 9844043 7762578 16771861
Open Targets
C8A Unknown
9759902
Open Targets, Disgenet
C8B Unknown
27183977 19434484 9476133 8098723
Disgenet, Open Targets
C8G Unknown
32086639 32048120
Open Targets
C9 Unknown
9634479 9144525 9570574 10072634
Open Targets, Disgenet
CD46 Unknown
14615110 16621965 14566051
Open Targets
CD55 Unknown
28657829
Open Targets
CD59 Unknown
23149847 1699124 25716358 1382994 24382084
Open Targets
CFB Unknown
4109808 24152280 33165708 41663882
Open Targets
CFD Unknown
16527897 6568950 11457876 29522842
Open Targets
CFH Unknown
24722444 1701856 10803850 9312129 2966809 16612335 7742208 14978182 12091909 32064578 36211394 35084692 31440263
Open Targets
CFHR1 Unknown
32086639 32048120
Open Targets
CFHR2 Unknown
32086639 32048120
Open Targets
CFHR3 Unknown
32086639 32048120
Open Targets
CFHR4 Unknown
32086639 32048120
Open Targets
CFHR5 Unknown
20800271 28673452 22503529 32086639 32048120
Open Targets
CFI Unknown
22710145 18374984 25988862 12562389 19065647 3897024 24142231 21316765 27091480 8613545
Open Targets
CFP Unknown
22229731 8530058 7151327 6903190 10909851
Open Targets
FCN3 Unknown
22226667 19535802 20971976 32086639 25662573 32048120
Open Targets
MASP2 Unknown
32086639 32048120 24658431 19405982
Open Targets
SERPING1 Unknown
7883978 1597123
Open Targets
THBD Unknown
32086639 32048120
Open Targets
Complement factor b deficiency
615561C3809950MONDO:0014255OMIM:615561
CFB Causal — CTD, ClinVar, Disgenet, GenCC, HPO
Complement factor d deficiency
613912C0398764MESH:C565027
CFD Unknown — CTD, Disgenet, HPO
Complement factor h deficiency
609814C0398777MESH:C562875MONDO:0012350
CFH Unknown
11170896 14978182 23870792
CTD, Disgenet, GWAS catalog, HPO
Complement factor I deficiency
610984C3463916MESH:C572568MONDO:0012594
CFI Unknown
19065647 21316765 22710145
CTD, Disgenet, GWAS catalog, HPO
Type I complement component 8 deficiency
MONDO:0013422
C8A Causal
32769119 9759902
ClinVar, Disgenet
Type II complement component 8 deficiency
MONDO:0013421
C8B Causal
19434484 27183977 7594510 8098723
ClinVar, Disgenet
All34 Causal12 Unknown33
Related Diseases Diseases that share the most curated genes with Complement deficiencies.
5 View disease cluster →
C3 glomerulonephritis 8 shared genesCFHR1, CFI, C3, CFB, CFH, CFHR5, CFHR3, CFHR2 Related via 8 shared genes including CFHR1, CFI, C3. Complement pathway abnormality 8 shared genesC1S, C2, C4B, C1QA, C1R, C4A, C1QB, C1QC Related via 8 shared genes including C1S, C2, C4B. Terminal complement component deficiency 7 shared genesC8B, C5, C9, C8A, C6, C7, C8G Related via 7 shared genes including C8B, C5, C9. Mesangiocapillary glomerulonephritis 7 shared genesCFHR1, CFI, C3, CD46, CFB, CFH, CFHR5 Related via 7 shared genes including CFHR1, CFI, C3. C3 glomerulopathy 7 shared genesCFHR1, CFI, C3, CFB, CFH, CFHR5, CFHR2 Related via 7 shared genes including CFHR1, CFI, C3.