| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.030 | GeneticVariation | BEFREE | In conclusion, the SNP rs1047891 was associated with VPA-induce HA among epilepsy patients. | 31151073 | 2019 |
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|
0.030 | GeneticVariation | BEFREE | In addition, the risk factors for hyperammonaemia identified by logistic regression analysis were as follows: a younger age (odds ratio [OR] = 0.85; 95% confidence interval [CI] = 0.76-0.96; p = 0.007), occurrence of liver injury (OR = 4.60; 95% CI = 1.27-16.74; p = 0.021), higher CDR of 4-ene VPA (OR = 1.08; 95% CI = 1.03-1.14; p = 0.001), and carrying mutant alleles of CYP2C9*3 (OR = 3.42; 95% CI = 1.15-10.19; p = 0.028), CYP2A6*4 (OR = 3.23; 95% CI = 1.40-7.48; p = 0.006) and CPS1 4217C>A (OR = 3.25; 95% CI = 1.52-6.94; p = 0.002). | 29791065 | 2018 |
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|
0.030 | GeneticVariation | BEFREE | In conclusion, CPS1 4217C>A</span> polymorphism may not be associated with the development of hyperammonemia in Japanese population. | 24888247 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | CPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patients. | 31151073 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | In addition, the frequency of hyperammonemia was higher in patients homozygous for c.1060C > T; p.(Gln354*) compared to the other mutations. | 29326055 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia. | 28911206 | 2017 |
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|
0.010 | GeneticVariation | BEFREE | The mutation Thr125Met is associated with neonatal hyperammonemia. | 17613537 | 2007 |