Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. 29867742

2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Conjunctival lymphangiectasia associated with classic Fabry disease. 28500230

2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease. 29491734

2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. 29982630

2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 28082092

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. 28756410

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. 27554049

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. 28682471

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern. 27211852

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies. 28649509

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Fabry disease due to D313Y and novel GLA mutations. 28988177

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. 28302345

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Fabry Disease: An Uncommon Cause of Renal Failure. 28389313

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Mutational analysis of the GLA gene in Mexican families with Fabry disease. 28360401

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. 28430823

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. 28672034

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. 27083555

2016