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 GeneticVariation disease CLINVAR
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease BEFREE Recent studies have shown that genetic variants on the TRAF1/C5 (tumor necrosis factor receptor-associated factor 1, complement component 5) locus confer susceptibility to rheumatoid arthritis (RA). 20030635 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease BEFREE Replication of the tumor necrosis factor receptor-associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family-based study. 18759306 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease BEFREE To determine whether the tumor necrosis factor (TNF)-receptor associated factor 1/complement component 5 (TRAF1/C5) polymorphism (rs10818488) confers susceptibility to rheumatoid arthritis (RA) and systemic lupus erythematous (SLE), a meta-analysis was performed. 23321589 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease LHGDN A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. 17880261 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.160 GeneticVariation disease LHGDN Association of the TRAF1/C5 locus with increased mortality, particularly from malignancy or sepsis, in patients with rheumatoid arthritis. 19116907 2009
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 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: C3810402
Disease: ECULIZUMAB, POOR RESPONSE TO
ECULIZUMAB, POOR RESPONSE TO 		0.100 GeneticVariation disease CLINVAR
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 GeneticVariation disease BEFREE Investigation of C5a receptor gene 450 C/T polymorphism in Turkish patients with familial Mediterranean fever. 19657723 2010
CUI: C0003907
Disease: Arthus Reaction
Arthus Reaction 		0.010 GeneticVariation disease BEFREE The in vivo efficacy was evaluated in three different animal models of immune complex diseases in mice, i.e., the reverse passive Arthus reaction in the peritoneum, skin, and lung.The i.v. application of the C5a receptor antagonist abrogated polymorphonuclear neutrophil accumulation in peritoneum and markedly attenuated polymorphonuclear neutrophil migration into the skin and the lung. 10395696 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population. 26934706 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation disease BEFREE The defect in Leiner's disease, which presents in early infancy with extensive dermatitis, diarrhoea, and failure to thrive, has been attributed to a defect of the fifth component of complement (C5). 144462 1977
CUI: C0025294
Disease: Meningococcal meningitis
Meningococcal meningitis 		0.010 GeneticVariation disease BEFREE Absence of the fifth component of complement (C5) by immunochemical assay and marked deficiency by hemolytic assay (less than 0.1%) was found in a family in which the oldest male child had suffered severe and recurrent meningococcemia at age 15 years, two brothers developed meningococcal meningitis four years later (at ages 18 and 14 years), and a sister had the gonococcal arthritis-dermatitis syndrome. 6785713 1981
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 GeneticVariation phenotype BEFREE Mice lacking a functional gene for complement C5 had smaller primary tumors, which were less invasive and lacked the CD68+ macrophages that have previously been associated with metastasis in this type of tumor. 27105526 2016
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 GeneticVariation disease BEFREE The tagging SNP rs17611 of the C5 gene and smoking may be associated with periodontitis among the Hong Kong Chinese population. 19909405 2010
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 GeneticVariation disease BEFREE We observed no association with RHD for the five tagging single nucleotide polymorphisms (tSNP) in the C5 gene, the three tSNPs in the TNFAIP3 gene, or the two tSNPs in the TRAF1 gene. 19902201 2009
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 GeneticVariation group BEFREE Small molecule inhibitors of the C5a receptor had antifibrotic effects in vivo, and common haplotype-tagging polymorphisms of the human gene C5 were associated with advanced fibrosis in chronic hepatitis C virus infection. 15995705 2005
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		0.010 GeneticVariation disease BEFREE Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population. 26934706 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation phenotype BEFREE Genetic deletion of C3 or the C5a receptor 1 (C5aR1), and pharmacological blockade of C5aR1, impaired the ability of T cells to overcome the endothelial barrier, infiltrate tumors, and control tumor progression <i>in vivo</i>, while genetic chimera mice demonstrated that C3 and C5aR1 expression by tumor stroma, and not leukocytes, governs T cell homing, acting on the local endothelium. 28932632 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 GeneticVariation disease BEFREE We used a case-control study involving 386 IS patients and 386 non-IS controls from a rural population and determined the genotypes of five polymorphisms (rs12237774, rs17611, rs4837805, rs7026551, and rs1017119) of C5 gene by Snapshot single-nucleotide polymorphism genotyping assays to assess any links with IS. 27768391 2016