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: C0149854
Disease: Cerebellar hemorrhage
Cerebellar hemorrhage 		2 0 1 0.50 0 0
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		2 0 1 0.50 0 0
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		5 0 1 0.20 0 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		7 0 1 0.14 0 0
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		8 0 1 0.12 0 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		11 0 1 9.1E-02 0 0
CUI: C1865292
Disease: Nonketotic hypoglycemia
Nonketotic hypoglycemia 		11 0 1 9.1E-02 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 6.7E-02 0 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		26 0 1 3.8E-02 0 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		27 0 1 3.7E-02 0 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		30 0 1 3.3E-02 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 1 2.4E-02 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 2.4E-02 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 1 2.0E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.9E-02 0 0
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		60 0 1 1.7E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.3E-02 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 0 1 9.8E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 8.7E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 8.5E-03 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 1 7.9E-03 0 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		133 0 1 7.5E-03 0 0
CUI: C0027497
Disease: Nausea
Nausea 		161 0 1 6.2E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0