GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Renal Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.420 AlteredExpression disease BEFREE Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. 25795794 2015
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.420 Biomarker disease GENOMICS_ENGLAND Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. 15100373 2004
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.420 GeneticVariation disease BEFREE This cardiac variant serves as an "experiment of nature" showing that the residual alpha-Gal A activity precludes glycosphingolipid deposition in the renal endothelial and other cells that lead to early renal failure in classically affected men, whereas marked podocyte accumulation is associated with proteinuria and possibly late-onset renal dysfunction. 14712441 2004
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.420 Biomarker disease HPO