rs1047891, CPS1

N. diseases: 34
Disease: Hyperammonemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
0.030 GeneticVariation BEFREE In conclusion, the SNP rs1047891 was associated with VPA-induce HA among epilepsy patients. 31151073 2019
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
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
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
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