CBSL, cystathionine beta-synthase like, 102724560

N. diseases: 129; N. variants: 0
Disease: Thrombophilia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.020 GeneticVariation disease BEFREE Thus, this mini-review aims to address a comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR) and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias. 22512572 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.020 GeneticVariation disease BEFREE Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation. 10807759 2000