Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10278
Gene Symbol: EFS
EFS
0.010 GeneticVariation phenotype BEFREE The consequent respiratory alkalosis affecting the brain and increasing neuronal excitability is a direct cause of the eFS [1]. 19201562 2009
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.010 GeneticVariation phenotype BEFREE Therefore, because acidosis and alkalosis are associated with altered PTH secretion in vivo, we examined whether pathophysiologic changes in pHo can significantly alter CaR responsiveness in both heterologous and endogenous expression systems and whether this affects PTH secretion. 25556167 2015
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
0.010 GeneticVariation phenotype BEFREE We found that cellular stress (alkalosis and hyperthermia) induces exon skipping in gephyrin messenger RNA, which is responsible for curtailed postsynaptic gephyrin and GABA(A) receptor α2 scaffolds. 21071388 2010