Source: ALL
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: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 70 0.11 1 1.3E-03
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		939 584 147 0.11 7 5.8E-03
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 77 0.11 0 0
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		776 24 130 0.11 1 1.5E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 85 0.11 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 69 107 0.11 1 1.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 134 0.11 1 1.4E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 128 0.11 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 128 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 121 0.10 1 1.4E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 96 0.10 0 0
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		756 103 122 0.10 2 2.7E-03
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		133 40 64 0.10 1 1.5E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 100 0.10 1 1.5E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 124 132 0.10 1 1.3E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 131 0.10 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 94 129 0.10 1 1.4E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		413 0 88 9.9E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 1085 260 9.9E-02 7 4.1E-03
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		106 0 60 9.9E-02 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 88 9.9E-02 0 0
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		176 37 66 9.9E-02 1 1.5E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 19 61 9.8E-02 1 1.5E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 67 9.8E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 84 9.8E-02 1 1.4E-03