GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 GeneticVariation group BEFREE We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. 28892806 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 GeneticVariation group BEFREE Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report. 27776503 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 AlteredExpression group BEFREE Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. 19037253 2009
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 GeneticVariation group BEFREE Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. 8738659 1996
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 Biomarker group BEFREE As the genetic and pathophysiologic basis of renal disease is clarified, obvious targets for therapy will be defined, for example, polycystin in polycystic kidney disease, human immunodeficiency virus (HIV) type 1 in HIV-associated nephropathy, alpha-galactosidase A in Fabry's disease, insulin in diabetic nephropathy, and the "minor" collagen IV chains in Alport's syndrome. 8840936 1996
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.150 Biomarker group HPO