Complement component deficiency
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 | |||
| CFB | Unknown | — | Disgenet | |||
| COMPLEMENT COMPONENT 3 DEFICIENCY | C3 | Causal | ClinVar, Disgenet, GenCC, Orphanet | |||
| COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | C3 | Unknown | — | CTD, HPO | ||
| COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF | SERPING1 | Unknown | — | CTD, Disgenet, HPO | ||
| COMPLEMENT COMPONENT 4A DEFICIENCY | C4A | Unknown | CTD, ClinVar, GWAS catalog, HPO | |||
| COMPLEMENT COMPONENT 4B DEFICIENCY | C4B | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| COMPLEMENT COMPONENT 5 DEFICIENCY | C5 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| COMPLEMENT COMPONENT 6 DEFICIENCY | C6 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| C8B | Causal | — | Disgenet | |||
| COMPLEMENT COMPONENT 7 DEFICIENCY | C7 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | C8A | Unknown | — | CTD, Disgenet, HPO | ||
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | C8B | Unknown | — | CTD, Disgenet, HPO | ||
| COMPLEMENT COMPONENT 9 DEFICIENCY | C9 | Causal | ClinVar, HPO, Orphanet | |||
| COMPLEMENT COMPONENT C1S DEFICIENCY | C1S | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| KMT2D | Causal | — | Disgenet | |||
| COMPLEMENT DEFICIENCIES | C2 | Unknown | — | Disgenet | ||
| C4B | Unknown | — | Disgenet | |||
| C8A | Unknown | — | Disgenet | |||
| C8B | Unknown | — | Disgenet | |||
| C9 | Unknown | — | Disgenet | |||
| COMPLEMENT FACTOR B DEFICIENCY | CFB | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| COMPLEMENT FACTOR D DEFICIENCY | CFD | Unknown | — | CTD, Disgenet, HPO | ||
| COMPLEMENT FACTOR H DEFICIENCY | CFH | Unknown | CTD, Disgenet, GWAS catalog, HPO | |||
| COMPLEMENT FACTOR I DEFICIENCY | CFI | Unknown | CTD, Disgenet, GWAS catalog, HPO | |||
| TYPE I COMPLEMENT COMPONENT 8 DEFICIENCY | C8A | Causal | ClinVar, Disgenet | |||
| TYPE II COMPLEMENT COMPONENT 8 DEFICIENCY | C8B | Causal | ClinVar, Disgenet |