Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia. 26652600 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Late onset variants in Fabry disease: Results in high risk population screenings in Argentina. 26937405 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Pathology and function of conduction tissue in Fabry disease cardiomyopathy. 26047621 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Identification of mutations in Colombian patients affected with Fabry disease. 26297554 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. 25596309 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman. 26631895 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. 25439755 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Prevalence of Fabry's disease within hemodialysis patients in Spain. 24365053 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology. 25026990 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Fabry disease: a new approach for the screening of females in high-risk groups. 24582695 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease. 24334114 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. 24661928 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. 23306324 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. 23109060 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. 23537685 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement. 23332617 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young. 23219219 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR [Genetic and clinical study of three Chinese pedigrees with Fabry disease]. 23568732 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma. 24236025 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR [A boy with Fabry disease with the onset at the age of four]. 23591357 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 GeneticVariation disease CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
1.000 CausalMutation disease CLINVAR Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy. 24094560 2013