Complement component deficiency

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