Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 3 6.4E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.2E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 1 1.0E-01 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.7E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 5.0E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 2 8.7E-02 0 0
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		2 0 1 0.12 0 0
CUI: C0018794
Disease: Heart Block
Heart Block 		1 0 1 0.14 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		16 0 2 9.5E-02 0 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 0 1 8.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 5.9E-03 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 1 5.9E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 4.0E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.4E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.1E-03 0 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		7 0 1 7.7E-02 0 0
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		3 0 1 0.11 0 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		6 0 1 8.3E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		6 0 1 8.3E-02 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		3 0 1 0.11 0 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		5 0 2 0.20 0 0
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		4 0 1 1.0E-01 0 0
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		1 0 1 0.14 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		1 0 1 0.14 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		8 0 1 7.1E-02 0 0