C5, complement C5, 727

N. diseases: 129; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0338437
Disease:
Neurocysticercosis
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs25681
rs25681
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0338437
Disease:
Neurocysticercosis
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs25681
rs25681
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs992670
rs992670
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs992670
rs992670
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0338437
Disease:
Neurocysticercosis
0.010 GeneticVariation BEFREE This work aimed to study the possible relevance for human neurocysticercosis of single nucleotide polymorphisms (SNPs) in the C5-<i>TRAF1</i> region (rs17611 <i>C/T</i>, rs992670 <i>G/A</i>, rs25681 <i>G/A</i>, rs10818488 <i>A/G</i>, and rs3761847 <i>G/A</i>) in a Mexican population and associated with clinical and radiological traits related to neurocysticercosis severity (cell count in the cerebrospinal fluid [CSF cellularity], parasite location and parasite load in the brain, parasite degenerating stage, and epilepsy). 31570557 2019
dbSNP: rs1017119
rs1017119
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation 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
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE Among the six C5 SNPs, a marginal association was first detected between rs17611 and total DR patients (P = 0.009, OR = 0.53 for recessive model). 26989329 2016
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C1845050
Disease:
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
0.010 GeneticVariation BEFREE In stratification analysis, a significant decrease in the frequencies of G allele and GG homozygosity for rs17611 was observed in PDR patients compared with diabetic controls (Pcorr = 0.032, OR = 0.65 and Pcorr = 0.016, OR = 0.37, resp.); it was linked with a disease progression. 26989329 2016
dbSNP: rs2269067
rs2269067
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE C5 rs2269067 GG genotype confers risk for PDR of T2D in Chinese han population and is associated with an elevated C5 mRNA expression and an increased IL-6 production. 26934706 2016
dbSNP: rs2269067
rs2269067
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C1845050
Disease:
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
0.010 GeneticVariation BEFREE C5 rs2269067 GG genotype confers risk for PDR of T2D in Chinese han population and is associated with an elevated C5 mRNA expression and an increased IL-6 production. 26934706 2016
dbSNP: rs7027797
rs7027797
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE A total of four C5 SNPs including rs2269067, rs7040033, rs1017119 and rs7027797 were genotyped in 400 PDR patients with T2D (cases) and 600 non- proliferative diabetic retinopathy PDR (NPDR) with T2D patients (controls) by using PCR-RFLP method. mRNA expression was examined by real-time PCR. 26934706 2016
dbSNP: rs112959008
rs112959008
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0025303
Disease:
Meningococcal Infections
0.010 GeneticVariation BEFREE In 2012 we reported association between p.A252T and meningococcal disease. 25534848 2015
dbSNP: rs121909588
rs121909588
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0025303
Disease:
Meningococcal Infections
0.010 GeneticVariation BEFREE Three different C5 mutations c.55C>T:p.Q19X, c.754G>A:p.A252T and c.4426C>T:p.R1476X were diagnosed in index cases from two families who had both presented with recurrent meningococcal disease. p.Q19X and p.R1476X have already been described in North American Black families and more recently p.Q19X in a Saudi family. 25534848 2015
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Plasma C5a levels were significantly increased and C5 levels significantly lower with higher copy number of the RA risk allele for rs17611, suggesting increased turnover of C5 V802. 25725109 2015
dbSNP: rs2269067
rs2269067
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE The frequency of the GG genotype of rs2269067 in C5 was increased in AAU patients with or without AS compared to controls (Pc = 4.0 × 10(-5), odds ratio [OR] = 1.94 and Pc = 9.4 × 10(-5), OR = 1.89, respectively). 26230759 2015
dbSNP: rs2269067
rs2269067
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0004943
Disease:
Behcet Syndrome
0.010 GeneticVariation BEFREE Increased frequencies of the GG genotype of C3 rs408290 and C5 rs2269067 were found in BD. 26269006 2015
dbSNP: rs2269067
rs2269067
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0701807
Disease:
Acute anterior uveitis
0.010 GeneticVariation BEFREE The C5 rs2269067 GG genotype confers risk for AAU in a Chinese population and is associated with an elevated C5 serum concentration and an increased IL-17 production. 26230759 2015
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Up to now, the impact of C5 rs17611 on the progression of atherosclerosis and cardiovascular outcome in patients with asymptomatic atherosclerosis was unclear. 22452399 2012
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE Up to now, the impact of C5 rs17611 on the progression of atherosclerosis and cardiovascular outcome in patients with asymptomatic atherosclerosis was unclear. 22452399 2012
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0007282
Disease:
Carotid Stenosis
0.010 GeneticVariation BEFREE No association of C5 rs17611 with progression of carotid stenosis, observed in 93 (8·7%) patients, was detectable. 22452399 2012
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0577631
Disease:
Carotid Atherosclerosis
0.010 GeneticVariation BEFREE The C5 rs17611 GG genotype is associated with increased C5a plasma levels and represents a risk factor for adverse cardiovascular outcome in male patients with carotid atherosclerosis. 22452399 2012
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0085437
Disease:
Meningitis, Bacterial
0.010 GeneticVariation BEFREE Here, we have performed a robust prospective nationwide genetic association study in patients with bacterial meningitis and found that a common nonsynonymous complement component 5 (C5) SNP (rs17611) is associated with unfavorable disease outcome. 21926466 2011
dbSNP: rs1035029
rs1035029
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0031099
Disease:
Periodontitis
0.010 GeneticVariation BEFREE The haplotype CGCA of the haplotype block consisting of rs1035029, rs17611, rs25681 and rs992670 was significantly associated with periodontitis in a dominant model (p = 0.001). 19909405 2010
dbSNP: rs141829974
rs141829974
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0031069
Disease:
Familial Mediterranean Fever
0.010 GeneticVariation BEFREE Investigation of C5a receptor gene 450 C/T polymorphism in Turkish patients with familial Mediterranean fever. 19657723 2010