|
rs1057518827
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555889984
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs200956636
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs62641689
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs864309530
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema.
|
11085810 |
2000 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations.
|
26215181 |
2016 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever.
|
10667038 |
2000 |
|
rs2229291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy.
|
23969168 |
2014 |
|
rs2229291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Positive association was found between rs2</span>229291 and patients with fever</span> at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821.
|
25361188 |
2014 |
|
rs28934897
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Her 19-year old brother presented since the age of 1 year with prolonged episodes of fever and was diagnosed with HIDS at the age of 7 years based on clinical features and homozygosity for p.V377I mutation in MVK.
|
25708585 |
2015 |
|
rs28934897
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.
|
27899390 |
2016 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that patients carrying the CYP3A5*1/*3 genotype demonstrated more side effects of fever, pleural effusion, and febrile neutropenia than those with the CYP3A5*3/*3 genotype (p = 0.075, 0.077, and 0.030, respectively); moreover, patients with the ABCB1 2677G/G genotype also showed more side effects of fever and febrile neutropenia than those with other genotypes (p = 0.024 and 0.027), In regard to ABCB1 3435C>T, patients with ABCB1 3435C/C tended to suffer leucopenia (p = 0.057).
|
19332043 |
2009 |
|
rs104895271
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The D12E substitution has been described only once to date, in a 4-year-old boy with fever.
|
23322460 |
2013 |
|
rs104895358
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.
|
27899390 |
2016 |
|
rs1051266
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggested that the risk of NTDs was potentially influenced by a gene-environment interaction between maternal SLC19A1 rs1051266 GG/GA genotype and first trimester fever.
|
24917213 |
2015 |
|
rs1055229
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, patients with the CC genotype of rs12477677 were correlated with fewer occurrences of fever (p = 0.016), while patients carrying the T allele were associated with lower levels of ESR in the dominant model of rs1055229 (p = 0.021).
|
28424495 |
2017 |
|
rs1064797245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.
|
29066118 |
2018 |
|
rs11568658
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ABCC4 single nucleotide polymorphism rs11568658 was associated with misoprostol-induced fever.
|
26122863 |
2015 |
|
rs11575933
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This explains the higher susceptibility of the enzymatic activity of MDTCS-P475S to reaction environments such as denaturants and high temperature.
|
23621748 |
2013 |
|
rs118192161
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Considering that many MH symptoms resemble those that could ensue from a mitochondrial dysfunction (e.g. metabolic acidosis and hyperthermia) and that MH-susceptible mice or humans have a higher than normal cytoplasmic Ca(2+) concentration at rest, we evaluated the role of mitochondria in skeletal muscle from R163C compared with wild type mice under basal (untriggered) conditions.
|
20978128 |
2011 |
|
rs1187636039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever).
|
21360512 |
2011 |
|
rs1204135596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare, c.1955G>A, p.Arg652His MEFV gene variant was identified at negligible levels in an early peripheral blood DNA sample, but affected 46 % of the MEFV alleles and was restricted to JAK2-positive, polymorphonuclear and CD3-depleted mononunuclear DNA samples obtained 4 years later, when the patient experienced fever bouts.
|
26123310 |
2015 |
|
rs121917748
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures.
|
12165424 |
2002 |
|
rs121918622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood.
|
28373025 |
2017 |