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: C0023787
Disease: Lipodystrophy
Lipodystrophy 		2 0 1 2.2E-02 0 0
CUI: C0023798
Disease: Lipoma
Lipoma 		5 0 1 2.0E-02 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		16 0 2 3.4E-02 0 0
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		5 0 1 2.0E-02 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 0 1 1.9E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		7 0 1 2.0E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 5 1.3E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 4 6.5E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 2 2.3E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 5 9.8E-02 0 0
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		8 0 1 1.9E-02 0 0
CUI: C0033300
Disease: Progeria
Progeria 		1 0 1 2.2E-02 0 0
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		5 0 1 2.0E-02 0 0
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		20 0 1 1.6E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 2 1.9E-02 0 0
CUI: C0037763
Disease: Spasm
Spasm 		7 0 1 2.0E-02 0 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		7 0 1 2.0E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 1.6E-02 0 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		2 0 2 4.4E-02 0 0
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		3 0 3 6.7E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		9 0 1 1.9E-02 0 0
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		1 0 1 2.2E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 0 2 4.1E-02 0 0
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		12 0 1 1.8E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		6 0 1 2.0E-02 0 0