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 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 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 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 Biomarker phenotype HPO
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 Biomarker phenotype CTD_human Survey of local anesthetic toxicity in the families of patients with atypical plasma cholinesterase. 1058931 1975
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Succinylcholine-induced prolonged apnea in a 3-week-old newborn: treatment with human plasma cholinesterase. 1734774 1992
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype CTD_human Initial experiences with the Cholinesterase Research Unit. 5488351 1970
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype BEFREE This present study provides an additional piece of support to the hypothesis that the ChF1 and ChS1 are alleles determining the synthesis of usual and atypical cholinesterase together with the likelihood of ChU1ChD1 heterozygotes having occasional suxamethonium apnoea. 1225820 1975
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Prolonged paralysis in pseudocholinesterase deficiency. 4347326 1973
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Plasma cholinesterase deficiency in a neonate: a follow-up. 7788839 1995
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Violent fasciculations after small dose succinylcholine infusion as a first sign of atypical pseudocholinesterase. 6465587 1984
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Succinylcholine--prolonged apnoea and some dangers. 4319258 1970
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype CTD_human Violent fasciculations after small dose succinylcholine infusion as a first sign of atypical pseudocholinesterase. 6465587 1984
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Qualitative defects of pseudocholinesterase activity. 4959505 1967
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype CTD_human Atypical plasma cholinesterase, succinylcholine, and prolonged apnea. 4850696 1974
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 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 Biomarker phenotype CTD_human Apnoea following suxamethonium: the genetic study of four generations of a family. 7069741 1982
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype CTD_human Case history number 92: Prolonged apnea after succinylcholine in a dental outpatient. 987736 1976
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Biomarker phenotype CTD_human Suxamethonium sensitivity. 4998912 1971
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Apnea and atypical pseudocholinesterase. 4698763 1973
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 Therapeutic phenotype CTD_human Suxamethonium sensitivity. 4998912 1971
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.400 GeneticVariation phenotype BEFREE The present report represents the 1st case in which a peripheral nerve stimulator has been used to substantiate the increased succinylcholine sensitivity of a patient heterozygous for the silent and the fluoride-resistant gene, and the 2nd published case of prolonged apnea following succinylcholine in a patient carrying the Ef1 Es1 genotype for abnormal serum cholinesterase. 568403 1978
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