Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C4699508
Disease: Cardioembolism (high-risk/medium-risk)
Cardioembolism (high-risk/medium-risk) 		0.010 GeneticVariation BEFREE GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females. 28275245

2017
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body. 27160240

2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis 		0.010 GeneticVariation BEFREE In this study, we utilized exome sequencing and Sanger sequencing identified the variation p.E66Q of GLA completely co-segregated with the disease phenotype in a Chinese family, which previously been diagnosed as possible CGN. 26456105

2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. 27160240

2016
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 GeneticVariation BEFREE To evaluate the role of the p.E66Q in the progression of renal diseases, we performed a genetic association study in patients with chronic kidney disease (CKD). 24718812

2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 GeneticVariation BEFREE This study indicated that the p.E66Q variant of GLA does not affect the progression of CKD. 24718812

2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		0.010 GeneticVariation BEFREE Clinically, all patients with p.E66Q mutation were > 50 years old and had multiple small-vessel occlusions (lacunar infarctions). 23724928

2014
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 GeneticVariation BEFREE Individuals with the E66Q enzyme have been suspected to have the later-onset Fabry disease phenotype leading to renal and cardiac disease. 22305854

2012
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE In addition, our results underscore the high prevalence of not only undiagnosed Fabry patients but functional variants of p.E66Q among the ESRD population. 22695894

2012
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 GeneticVariation BEFREE In addition, our results underscore the high prevalence of not only undiagnosed Fabry patients but functional variants of p.E66Q among the ESRD population. 22695894

2012
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 GeneticVariation BEFREE The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. 28799081

2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		0.010 GeneticVariation BEFREE No accumulation of neurologic events in family members of p.A143T </span>patients with stroke/transient ischemic attacks was observed. 27142856

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.010 GeneticVariation BEFREE No accumulation of neurologic events in family members of p.A143T </span>patients with stroke/transient ischemic attacks was observed. 27142856

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs, high residual alpha-galactosidase A activity (AGAL-A) and normal plasma globotriaosylsphingosine. 25040344

2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.010 GeneticVariation BEFREE Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs, high residual alpha-galactosidase A activity (AGAL-A) and normal plasma globotriaosylsphingosine. 25040344

2015
dbSNP: rs104894851
rs104894851
GLA ; RPL36A-HNRNPH2
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.010 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003
dbSNP: rs104894851
rs104894851
GLA ; RPL36A-HNRNPH2
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.010 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003
dbSNP: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.010 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003
dbSNP: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.010 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003
dbSNP: rs138886989
rs138886989
GLA ; RPL36A-HNRNPH2
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		0.010 GeneticVariation BEFREE The first proband, a female with asymmetric septal hypertrophy (ASH), a significant left ventricular outflow tract gradient, and chronic obstructive pulmonary disease, was heterozygous for a novel missense mutation (p.N139S). 20498269

2010
dbSNP: rs138886989
rs138886989
GLA ; RPL36A-HNRNPH2
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE The first proband, a female with asymmetric septal hypertrophy (ASH), a significant left ventricular outflow tract gradient, and chronic obstructive pulmonary disease, was heterozygous for a novel missense mutation (p.N139S). 20498269

2010
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.010 GeneticVariation BEFREE Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease. 25468652

2015
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.010 GeneticVariation BEFREE Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. 24661928

2014
dbSNP: rs149391489
rs149391489
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.010 GeneticVariation BEFREE Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease. 20360539

2010
dbSNP: rs28935195
rs28935195
GLA ; RPL36A-HNRNPH2
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		0.010 GeneticVariation BEFREE The second proband, a male with ASH and multiple episodes of ventricular tachycardia, was hemizygous for a missense mutation (p.A156T). 20498269

2010