CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
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
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group GENOMICS_ENGLAND A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. 29522842 2018
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group HPO
CUI: C0018801
Disease: Heart failure
Heart failure 		0.310 Biomarker disease BEFREE We hypothesized that HF patients are characterized by an imbalance of alternative amplification loop components; including properdin and complement factor D and the alternative pathway inhibitor factor H. These components and the activation product, terminal complement complex (TCC), were measured in plasma from 188 HF patients and 67 age- and sex- matched healthy controls by enzyme immunoassay. 28195242 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.310 Biomarker disease BEFREE We hypothesized that HF patients are characterized by an imbalance of alternative amplification loop components; including properdin and complement factor D and the alternative pathway inhibitor factor H. These components and the activation product, terminal complement complex (TCC), were measured in plasma from 188 HF patients and 67 age- and sex- matched healthy controls by enzyme immunoassay. 28195242 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		0.310 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.310 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.310 GeneticVariation group BEFREE 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: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.310 Biomarker group CTD_human 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: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.300 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		0.300 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		0.300 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		0.300 Biomarker phenotype CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0003949
Disease: Asbestosis
Asbestosis 		0.300 Biomarker disease CTD_human Adipokine adipsin is associated with the degree of lung fibrosis in asbestos-exposed workers. 22832039 2012
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.300 Biomarker disease CTD_human Adipokine adipsin is associated with the degree of lung fibrosis in asbestos-exposed workers. 22832039 2012
CUI: C2930617
Disease: Pulmonary Fibrosis - from Asbestos Exposure
Pulmonary Fibrosis - from Asbestos Exposure 		0.300 Biomarker disease CTD_human Adipokine adipsin is associated with the degree of lung fibrosis in asbestos-exposed workers. 22832039 2012
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		0.300 Biomarker disease CTD_human Adipokine adipsin is associated with the degree of lung fibrosis in asbestos-exposed workers. 22832039 2012
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011