GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Ischemic stroke ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.320 GeneticVariation disease BEFREE To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. 23724928 2014
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.320 GeneticVariation disease BEFREE Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). 20110537 2010
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.320 Biomarker disease GENOMICS_ENGLAND Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. 15025684 2004