BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Disease: Pseudocholinesterase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease BEFREE Serum ChE in patients with acetyl cholinesterase deficiency were only 1/50 to 1/1000 fold of normal controls. 29630557 2018
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469 2007
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 16788378 2006
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359 1997