BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
0.310 AlteredExpression phenotype BEFREE But the presence of hyperglycemia, hypothermia, and reduced gastrointestinal motility along with normal serum cholinesterase levels and the absence of fasciculations and a hypersecretory state (salivation, lacrimation, perspiration, and diarrhea) point against OP poisoning. 31482050 2019
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
0.310 Biomarker phenotype CTD_human Violent fasciculations after small dose succinylcholine infusion as a first sign of atypical pseudocholinesterase. 6465587 1984