C5, complement C5, 727

N. diseases: 129; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 25534848 2015
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease BEFREE We postulate that the C5 defect is not the sole cause of Leiner's disease as has been suggested, but that hypogammaglobulinaemia or other lymphoid deficiency is also required for its expression. 144462 1977
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease CTD_human
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 GeneticVariation disease CLINVAR
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group GENOMICS_ENGLAND A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 25534848 2015
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group HPO
CUI: C0031154
Disease: Peritonitis
Peritonitis 		0.300 Biomarker disease CTD_human Small molecule activators of SIRT1 replicate signaling pathways triggered by calorie restriction in vivo. 19284563 2009
CUI: C0031154
Disease: Peritonitis
Peritonitis 		0.300 Biomarker disease CTD_human Resveratrol attenuates C5a-induced inflammatory responses in vitro and in vivo by inhibiting phospholipase D and sphingosine kinase activities. 19346296 2009
CUI: C1449646
Disease: Primary Peritonitis
Primary Peritonitis 		0.300 Biomarker disease CTD_human Small molecule activators of SIRT1 replicate signaling pathways triggered by calorie restriction in vivo. 19284563 2009
CUI: C1449646
Disease: Primary Peritonitis
Primary Peritonitis 		0.300 Biomarker disease CTD_human Resveratrol attenuates C5a-induced inflammatory responses in vitro and in vivo by inhibiting phospholipase D and sphingosine kinase activities. 19346296 2009
CUI: C1449647
Disease: Secondary Peritonitis
Secondary Peritonitis 		0.300 Biomarker disease CTD_human Small molecule activators of SIRT1 replicate signaling pathways triggered by calorie restriction in vivo. 19284563 2009
CUI: C1449647
Disease: Secondary Peritonitis
Secondary Peritonitis 		0.300 Biomarker disease CTD_human Resveratrol attenuates C5a-induced inflammatory responses in vitro and in vivo by inhibiting phospholipase D and sphingosine kinase activities. 19346296 2009
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		0.300 Biomarker disease CTD_human Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 7730648 1995
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group CTD_human Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 7730648 1995
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.300 Biomarker disease GENOMICS_ENGLAND Hereditary deficiency of C5 in association with discoid lupus erythematosus. 1999552 1991
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease BEFREE Together, these data emphasize the role of complement (C5a) and C5a receptors (C5aR1, C5aR2), as well as extracellular histones in events that lead to cardiac dysfunction of sepsis (septic cardiomyopathy). 29914696 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease BEFREE MEDI7814 has therapeutic potential for the treatment of acute inflammatory conditions in which both C5a receptors may mediate inflammation, such as sepsis or renal ischemia-reperfusion injury. 28952876 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease BEFREE Inhibition of complement C5 protects against organ failure and reduces mortality in a baboon model of <i>Escherichia coli</i> sepsis. 28720697 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease BEFREE Complement 5a (C5a) has been implicated in the pathogenesis of sepsis by inducing the functional impairment of neutrophils; however, the utility of C5a receptors (C5aRs; C5aR and C5L2) as biomarkers for the management of sepsis is uncertain. 25726869 2016
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease RGD The complement anaphylatoxin C5a induces apoptosis in adrenomedullary cells during experimental sepsis. 18648551 2008
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease RGD Regulatory role of C5a in LPS-induced IL-6 production by neutrophils during sepsis. 14688199 2004
CUI: C0243026
Disease: Sepsis
Sepsis 		0.250 Biomarker disease BEFREE Expression of the complement anaphylatoxin C3a and C5a receptors on bronchial epithelial and smooth muscle cells in models of sepsis and asthma. 11160252 2001
CUI: C0004096
Disease: Asthma
Asthma 		0.230 GeneticVariation disease BEFREE To determine whether genetic variations in the genes of the complement system affect susceptibility to BA, we screened single nucleotide polymorphisms (SNPs) in C3, C5, the C3a receptor gene (C3AR1), and the C5a receptor gene (C5R1) and performed association studies in the Japanese population. 15278436 2004
CUI: C0004096
Disease: Asthma
Asthma 		0.230 Biomarker disease BEFREE Expression of the complement anaphylatoxin C3a and C5a receptors on bronchial epithelial and smooth muscle cells in models of sepsis and asthma. 11160252 2001