BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Disease: Malignant hyperpyrexia due to anesthesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.030 GeneticVariation disease BEFREE Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. 28259615 2017
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.030 GeneticVariation disease BEFREE One hundred and six individuals from 33 families with a history of malignant hyperthermia have been investigated for plasma cholinesterase variants. 7470359 1981
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.030 GeneticVariation disease BEFREE Collaborative study of the frequency of the fluoride-resistant cholinesterase variant in patients with malignant hyperpyrexia. 7470360 1981