Disease: Fabry Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.020 Biomarker disease BEFREE We suggest that LAMP-1 and LAMP-2 could be used as additional markers with which to assess ERT effectiveness in FD. 24334114 2014
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.020 GeneticVariation disease BEFREE Gene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. 15673802 2005