C7, complement C7, 730

N. diseases: 16; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease BEFREE Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. 17407100 2007
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 CausalMutation disease CLINVAR Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency. 15831990 2005
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Complement component C7 deficiency in two Spanish families. 15554930 2004
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease BEFREE The relatives (parents and one sister) had half-normal levels of both immunochemically and functionally determined C7, indicating a heterozygous state for C7 deficiency. 2792129 1989
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease CTD_human
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.420 Biomarker group GENOMICS_ENGLAND Complement component C7 deficiency in two Spanish families. 15554930 2004
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.420 Biomarker group BEFREE A novel screening assay was used to investigate for terminal complement deficiency and the 2 affected brothers were found to be completely deficient in the seventh component of complement (C7). 7523157 1994
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.420 Biomarker group BEFREE In addition, the simultaneous occurrence of two hereditary complement deficiencies (C2 and C7) was discovered in one family of this remarkable kindred. 409732 1977
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.420 Biomarker group HPO
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Time course studies on the initiation of complement activation in acute myocardial infarction induced by coronary artery ligation in rats. 15724448 2005
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD Formation of complement membrane attack complex in mammalian cerebral cortex evokes seizures and neurodegeneration. 12574424 2003
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.200 Biomarker disease RGD Detection of terminal complement components in experimental immune glomerular injury. 6241952 1984
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C1970263
Disease: Recurrent meningococcal disease
Recurrent meningococcal disease 		0.100 Biomarker phenotype HPO
CUI: C4017564
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL 		0.100 CausalMutation disease CLINVAR
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.040 Biomarker group BEFREE Complement C7 deficiency is associated with increased susceptibility to meningococcal infection. 16552475 2006
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.040 Biomarker group BEFREE We report the recurrence of fulminant meningococcal disease in a complement component C7-deficient patient. 15889368 2005
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.040 Biomarker group BEFREE We report studies of an Irish family in which the index case had suffered recurrent meningococcal disease and was found to be deficient in the seventh component of complement (C7). 9844043 1998
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		0.040 Biomarker group BEFREE An apparently completely complement C7-deficient patient with refractory otitis media and two episodes of meningococcal disease was given therapeutic plasma transfusions in 1992 and 1994. 8774358 1996
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.010 Biomarker disease BEFREE An apparently completely complement C7-deficient patient with refractory otitis media and two episodes of meningococcal disease was given therapeutic plasma transfusions in 1992 and 1994. 8774358 1996