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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
COMPLEMENT COMPONENT 3 DEFICIENCY C3 Causal ClinVar, Disgenet, GenCC, Orphanet
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 9 DEFICIENCY C9 Causal ClinVar, HPO, Orphanet
COMPLEMENT COMPONENT C1S DEFICIENCY C1S Causal — CTD, ClinVar, Disgenet, GenCC, HPO
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
All17 Causal12 Unknown12