|
rs121918552
|
|
|
0.710 |
GeneticVariation |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
|
rs724159947
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV.
|
25807284 |
2015 |
|
rs786205155
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL.
|
26102509 |
2015 |
|
rs879255268
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We now report a 5-year-old girl with syndromic thrombocytopenia due to the same SRC-E527K variant that occurs <i>de novo</i>.
|
31204551 |
2019 |
|
rs1695
|
|
|
0.030 |
GeneticVariation |
BEFREE |
<i>GSTP1</i> rs1695 showed the smallest p value for hematotoxicity association, and the <sup>105</sup>Ile wild type allele had a significantly higher risk of severe hematotoxicity (neutropenia G4, thrombocytopenia ≥ G3 and anemia ≥ G3) than the <sup>105</sup>Val allele (p=0.00034, odds ratio=5.71 (95% confidence interval:1.77-18.44)).
|
30038720 |
2018 |
|
rs1695
|
|
|
0.030 |
GeneticVariation |
BEFREE |
No significant association was found between DPYD*6, GSTP1 ile105val polymorphisms and CAPOX related toxicities except for thrombocytopenia.
|
31653159 |
2019 |
|
rs1695
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The aim of the study is to evaluate the association between granulocytopenia and thrombocytopenia induced by platinum-based drugs and GSTP1 rs1695 gene polymorphism by meta-analysis.
|
30238837 |
2018 |
|
rs61749397
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy.
|
27885890 |
2017 |
|
rs61749397
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In vivo expression resulted in thrombocytopenia and circulating aggregates, both of which were more pronounced for mVWF/V1316M.
|
20200350 |
2010 |
|
rs61749397
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Variable thrombocytopenia was observed in mice expressing 2B VWF, mimicking the severity seen in 2B VWD patients: mice expressing the V1316M mutation showed the most severe thrombocytopenia.
|
20371742 |
2010 |
|
rs104894815
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1.
|
10700180 |
2000 |
|
rs104894815
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Substitution mutations in GATA1-Nf, such as GATA1(V205M) that diminish the GATA1-FOG1 association, have been identified in human thrombocytopenia and anemia cases.
|
22279059 |
2012 |
|
rs10510050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, rs10510050 was significantly correlated with thrombocytopenia, emesis and hepatotoxicity.
|
25732572 |
2015 |
|
rs10759637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygotes of rs10759637 at 3'UTR was associated with severe thrombocytopenia (odds ratio [OR]: 2.69; <i>P</i> = 0.012) and shorter overall survival (hazard ratio [HR]: 1.24; <i>P</i> = 0.005).
|
29844858 |
2018 |
|
rs11598702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Other toxicities associated to variant alleles were hepatotoxicity to NT5C2 rs11598702 (p = .032), lung toxicity (p = .031) and thrombocytopenia to DCK rs4694362 (p = .046).
|
28573946 |
2017 |
|
rs11789898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single-nucleotide polymorphisms (rs342275, rs342293, rs7694379, rs11789898, and rs17824620) showed significant association with lobaplatin-induced thrombocytopenia.
|
31279707 |
2019 |
|
rs121908065
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
|
21933849 |
2012 |
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Some N370S homozygotes exhibited more severe clinical manifestations: 9% (29/327) had severe thrombocytopenia; 3% (5/190) had severe hepatomegaly; 11% (22/194) had severe splenomegaly; 7% (18/255) reported bone crises; 11% (8/70) had osteoporosis.
|
18979180 |
2008 |
|
rs1297235855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
|
21933849 |
2012 |
|
rs143873938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We suggest that p.V528M is neither associated with BPNH nor with thrombocytopenia and giant platelets, and represents a functional polymorphism.
|
20844545 |
2010 |
|
rs1453542
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients homozygous for the minor allele of rs1453542 had a higher risk of neutropenia, and for rs5925720 the minor allele was associated with a lower risk for thrombocytopenia.
|
26378035 |
2016 |
|
rs1523127
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriers of two copies of the ATG haplotypes of NR1I2-rs1523130, rs3814055 and rs1523127 were 19% less sensitive to thrombocytopenia than those harboring other haplotypes (p = 0.025).
|
26267044 |
2015 |
|
rs1523130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriers of two copies of the ATG haplotypes of NR1I2-rs1523130, rs3814055 and rs1523127 were 19% less sensitive to thrombocytopenia than those harboring other haplotypes (p = 0.025).
|
26267044 |
2015 |
|
rs1537514
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that polymorphism of rs1537514 showed the most significant effect: heterozygote associated with better clinical benefit (P = 0.002) and decreased risk of grade 3 or 4 gastrointestinal toxicity (P = 0.027), while the mutant homozygote associated with increased risk of severe gastrointestinal toxicity (P = 0.031) and thrombocytopenia (P = 009).
|
25104092 |
2014 |
|
rs160441
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings firstly exhibit that rs218916 and rs160441 within lncRNA RP11-37B2.1 significantly associate with the occurrence of thrombocytopenia and suggest RP11-37B2.1 genetic variants are potential biosignatures for thrombocytopenia during anti-TB treatment.
|
30924187 |
2019 |