Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.020 GeneticVariation disease BEFREE Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity. 23913449 2013
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.020 GeneticVariation disease BEFREE In a prospective, open-label study, 25 patients with mild-to-moderate type 1 Gaucher's disease (GD1) were treated with miglustat (Zavesca), an oral glucosylceramide synthase inhibitor, over 12 months. 16627252 2006