Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
0.420 Biomarker phenotype CTD_human Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. 25480793 2015
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
0.420 GeneticVariation phenotype BEFREE Patients with SLC6A5 mutations were significantly more likely to have had recurrent infantile apnoeas (RR1.9; P < 0.005) than those with GLRA1 mutations. 24030948 2013
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
0.420 GeneticVariation phenotype BEFREE Genotype-phenotype analysis revealed a high rate of neonatal apneas and learning difficulties associated with SLC6A5 mutations. 22700964 2012
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
0.420 Biomarker phenotype HPO
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 AlteredExpression phenotype BEFREE Whole blood cholinesterase levels decreased to less than 10% of the original value by 15 min post WoundStat™ treatment and gradually decreased until the onset of apnoea or until euthanasia. 28853336 2018
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype BEFREE Patients with BChE deficiency are possibly in danger of postanesthetic apnea. 29631548 2018
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 GeneticVariation phenotype BEFREE Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium. 25054547 2014
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype CTD_human Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 21029050 2011
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 21029050 2011
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 GeneticVariation phenotype BEFREE Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 21029050 2011
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype BEFREE Like BChE(-/-) humans, the BChE(-/-) mouse responded to succinylcholine with prolonged respiratory arrest. 18056867 2008
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 AlteredExpression phenotype BEFREE We suggest that determination of BChE activity and phenotype by the micro automated method is well suited to pre-operative screening and detection of at-risk of prolonged apnea in persons receiving succinylcholine in the healthy population of western Iran. 17350607 2007
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human We present one case of patient who presented a five hours long apnoea associated with null cholinesterase activity and detection of a butyrylcholinesterase silent variant (Sil-1, 1 for 100,000 persons in population) after sequencing. 15826794 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype CTD_human We present one case of patient who presented a five hours long apnoea associated with null cholinesterase activity and detection of a butyrylcholinesterase silent variant (Sil-1, 1 for 100,000 persons in population) after sequencing. 15826794 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype CTD_human Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 GeneticVariation phenotype BEFREE Between 1999 and 2002, we genotyped 65 patients referred after prolonged post-SC apnea.Five BCHE gene mutations were analyzed. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 GeneticVariation phenotype BEFREE People with genetic variants of butyrylcholinesterase can have hours of prolonged apnoea after a normal dose of succinylcholine or mivacurium. 11928765 2002
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR. 12392308 2002
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Biomarker phenotype CTD_human Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR. 12392308 2002
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 AlteredExpression phenotype BEFREE Decreased activity of plasma cholinesterase is responsible for prolonged apnea during anesthesia using neuromuscular blockers such as suxamethonium and mivacurium. 11749053 2001
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 GeneticVariation phenotype BEFREE The clinically most important variant is atypical (D70G) BChE because people with this variant have 2 hours of apnea after receiving a dose of succinylcholine that is intended to paralyze muscles for 3-5 minutes. 10794391 2000
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.400 Therapeutic phenotype CTD_human Plasma cholinesterase deficiency in a neonate: a follow-up. 7788839 1995