|(G;G)||0||common in clinvar|
|Disease Association||Defects in FMO3 are the cause of trimethylaminuria (TMAuria) (MIM:602079); also known as fish-odor syndrome. TMAuria is an inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs. Such individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine.|
|Disease||Trimethylaminuria not specified|
|CLNDBN||Trimethylaminuria, mild Trimethylaminuria not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000017711.5, RCV000201276.1, RCV000201278.1, RCV000248637.1,|
[PMID 28134761] Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations
[PMID 15858076] Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.
[PMID 18180394] Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans.
[PMID 18565990] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.
[PMID 20056567] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.
[PMID 9536088] Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
[PMID 10485731] Mild trimethylaminuria caused by common variants in FMO3 gene.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23390647] [Catalase gene polymorphism is associated with increased risk of cerebral stroke in hypertensive patients]
[PMID 24165757] The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation
[PMID 26081749] Antioxidant-related gene polymorphisms associated with the cardio-ankle vascular index in young Russians