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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.4E-03 0 0
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		2 2 2 1.00 2 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 2 4.7E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 2 0.11 2 9.5E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 2 0.25 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 0 2 0.18 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 5.4E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 2 3.2E-02 0 0
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		4 4 2 0.50 2 0.50
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 2 6.0E-03 2 3.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 2 5.4E-02 2 3.2E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 2 9.5E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 52 2 4.4E-02 2 3.8E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 2 0.18 0 0
CUI: C0030252
Disease: Palpitations
Palpitations 		6 0 2 0.33 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 2 3.2E-02 0 0
CUI: C0039070
Disease: Syncope
Syncope 		8 12 2 0.25 2 0.17
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 0 2 0.14 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 6 2 0.33 2 0.33
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		4 0 2 0.50 0 0
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		2 0 2 1.00 0 0
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		4 0 2 0.50 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		4 0 2 0.50 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 2 0.18 2 0.11
CUI: C0231712
Disease: Waddling gait
Waddling gait 		8 0 2 0.25 0 0