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: rs7867876
rs7867876
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1035029
rs1035029
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs41311933
rs41311933
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs7037673
rs7037673
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs7026551
rs7026551
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs121909587
rs121909587
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0343047
Disease:
Complement component 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs121909588
rs121909588
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0343047
Disease:
Complement component 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554718962
rs1554718962
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0343047
Disease:
Complement component 5 deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs373359894
rs373359894
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C3810402
Disease:
ECULIZUMAB, POOR RESPONSE TO
A 0.700 GeneticVariation CLINVAR
dbSNP: rs387906554
rs387906554
Entrez Id: 727;110599590
Gene Symbol: C5;C5-OT1
C5;C5-OT1
CUI: C0343047
Disease:
Complement component 5 deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs56040400
rs56040400
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C3810402
Disease:
ECULIZUMAB, POOR RESPONSE TO
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587776846
rs587776846
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0343047
Disease:
Complement component 5 deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE In this sample of patients, genetic variation of rs17611 in C5 is associated with higher prevalence of IS. 27768391 2016
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE C5 rs17611 genetic variants were investigated in 494 IS patients and 330 control individuals .Ischemic stroke was classified into subtypes and patients were assessed 90 days post-stroke with the modified Rankin Scale to determine stroke outcome. 27901252 2016
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE C5 rs17611 genetic variants were investigated in 494 IS patients and 330 control individuals .Ischemic stroke was classified into subtypes and patients were assessed 90 days post-stroke with the modified Rankin Scale to determine stroke outcome. 27901252 2016
dbSNP: rs17611
rs17611
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE Previously, we found a single-nucleotide polymorphism (SNP) in the complement 5 gene (C5 rs17611, A>G) independently associated with stroke. 22452399 2012
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