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Table 3 Statistics correlation (p-value) between genetic variants and CIHs and clinical signs of Fabry disease significant p < 0.05

From: Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Symptoms

c.1000-22C > T

c.370-81_-77del

c.640–16 A > G

c.-10 C > T

c1244 T > C

c.38 C > T

Hap1

Hap2

Hap3

AlfaGal Abn.

0.624

1.000

1.000

0.429

0.073

0.927

1.000

1.000

1.000

GB3 Abn

1.000

0.501

0.501

0.240

0.036

0.964

0.448

0.448

1.000

Heat Intolerance

0.012

0.022

0.022

0.116

0.091

0.091

0.098

0.098

0.325

fatigue

0.756

1.000

1.000

0.531

0.236

0.764

0.719

0.719

1.000

Tinnitus

0.202

1.000

1.000

0.531

0.236

0.764

0.719

0.719

0.234

Dysacusis

0.643

1.000

1.000

0.492

0.909

1.000

1.000

1.000

0.325

Acroparesthesias

0.278

0.775

0.775

0.437

1.000

0.473

0.764

0.764

0.613

Hyperhidrosis

0.222

0.102

0.102

0.624

0.273

0.273

0.493

0.493

1.000

Abdominal Dist

0.745

0.730

0.730

0.519

0.218

0.782

1.000

1.000

1.000

Dyspepsia

1.000

0.478

0.478

0.571

0.200

0.800

0.709

0.709

1.000

Diarrhea

0.718

0.212

0.212

0.733

0.145

0.145

0.405

0.405

1.000

Weight Gain Diff

0.775

0.213

0.213

0.024

0.309

0.691

0.322

0.322

1.000

Angiokeratoma

0.436

0.291

0.291

0.127

0.018

0.982

0.255

0.255

1.000

Valvar Abn

0.132

0.419

0.419

0.308

0.186

0.814

0.217

0.217

0.031

Arrhythmias

1.000

0.602

0.602

0.465

1.000

0.907

0.572

0.572

1.000

Visual Changes

0.073

0.046

0.046

0.005

0.213

0.787

0.01

0.01

0.521

Corneal Changes

0.002

0.003

0.003

0.012

0.255

0.401

0.05

0.05

1.000

Cornea Vertic

0.070

0.208

0.208

0,292

0.064

0.064

1.000

1.000

0.183

Cataract

0.426

1.000

1.000

0.894

1.000

0.979

1.000

1.000

0.064

Ant. Chamb Ch

0.004

0.006

0.006

0.011

1.000

0.128

0.164

0.164

0.343

Stroke FH

0.184

0.565

0.565

0.645

0.436

0.436

0.756

0.756

0.307

Trans. attack FH

0.186

0.081

0.081

0.240

0.036

0.001

0.448

0.448

1.000

Sudden death FH

1.000

0.346

0.346

0.586

0.327

0.673

0.510

0.510

1.000

kidney failure FH

0.686

0.660

0.660

0.423

1.000

0.891

1.000

1.000

0.379

Fabry FH

0.436

0.291

0.291

0.127

0.018

0.982

0.255

0.255

1.000

  1. Legend: Hap 1 = c.-10C > T, c.370-77_-81del, c.640-16A > G, c.1000-22C > T, Hap 2- c.370-77_-81del, c.640-16A > G, c.1000-22C > T, Hap 3 = c.548-125C > G, c.1000-22C > T, c.-12G > A. Abn: abnormal, Dist Distention, Diff difficulty, cornea Vertic cornea verticillata, Ant. Chamb Ch Anterior chamber changes,, FH Family history