Complement deficiencies
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| Complement component 2 deficiency | C2 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets | |||
| Complement component 3 deficiency | C3 | Causal | ClinVar, Disgenet, GenCC, Orphanet, Open Targets | |||
| Complement component 4B deficiency | C4B | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets | |||
| Complement component 5 deficiency | C5 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets | |||
| Complement component 6 deficiency | C6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets | |||
| C8B | Causal | — | Disgenet | |||
| Complement component 7 deficiency | C7 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, Open Targets | |||
| Complement component 9 deficiency | C9 | Causal | ClinVar, HPO, Orphanet, Open Targets | |||
| Complement component C1S deficiency | C1S | Causal | CTD, ClinVar, Disgenet, GenCC, HPO, Open Targets | |||
| KMT2D | Causal | — | Disgenet | |||
| Complement factor b deficiency | CFB | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| Type I complement component 8 deficiency | C8A | Causal | ClinVar, Disgenet | |||
| Type II complement component 8 deficiency | C8B | Causal | ClinVar, Disgenet |