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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.2E-03 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 3.0E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 3.8E-02 0 0
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 0 1 3.8E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 1 4.3E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 2 4.3E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 2 4.5E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 5.0E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 5.6E-02 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		16 0 1 5.6E-02 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 0 1 6.2E-02 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		12 0 1 7.1E-02 0 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 0 1 7.1E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 1 7.7E-02 0 0
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		11 0 1 7.7E-02 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 8.3E-02 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 1 9.1E-02 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 1 1.0E-01 0 0
CUI: C0039070
Disease: Syncope
Syncope 		8 0 1 1.0E-01 0 0
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		8 0 1 1.0E-01 0 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		7 0 1 0.11 0 0
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		7 0 1 0.11 0 0
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		6 0 1 0.12 0 0