Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.040 Biomarker BEFREE Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A. Ocular findings, such as cornea verticillata, cataracts, and retinal vascular tortuosity, serve as important diagnostic markers. 31253878

2019
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.040 AlteredExpression BEFREE Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. 28798024

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.040 GeneticVariation BEFREE Thus, presence of CV in an individual with an uncertain diagnosis of FD indicates a pathogenic GLA variant, in the absence of medication that may induce CV; if CV is absent, FD cannot be excluded. 25677671

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.040 AlteredExpression BEFREE The 3 patients with residual alpha-galactosidase A activity > or =1.5% of normal values were free of cornea verticillata and had normal serum and urinary globotriaosylceramide levels. 15713906

2005