CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
Disease: Complement Factor D Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. 29522842 2018
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		0.700 GeneticVariation disease UNIPROT Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		0.700 Biomarker disease CTD_human
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		0.700 CausalMutation disease CLINVAR