GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002871
Disease: Anemia
Anemia 		0.130 AlteredExpression disease BEFREE Medical examination showed slight splenomegaly (250 × 62 mm), thrombocytopenia (platelets 51 × 10<sup>9</sup>/L), anemia (Hb levels 107 g/L), and β-glucocerebrosidase activity (GBA) in leukocytes was lower than normal. 28580830 2017
CUI: C0002871
Disease: Anemia
Anemia 		0.130 GeneticVariation disease BEFREE A 9-month, global, randomized, double-blind, non-inferiority study compared velaglucerase alfa with imiglucerase (60 U/kg every other week) in treatment-naïve patients aged 3-73 years with anemia and either thrombocytopenia or organomegaly. 23400823 2013
CUI: C0002871
Disease: Anemia
Anemia 		0.130 Biomarker disease BEFREE Partial deficiency of acid beta-glucosidase is associated with parenchymal disease of the liver, spleen, and bone marrow with concomitant anemia and thrombocytopenia in non-neuronopathic, type 1 GD. 14984463 2004
CUI: C0002871
Disease: Anemia
Anemia 		0.130 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.130 GeneticVariation disease CLINVAR