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: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 1.00 1 0.17
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 1.00 1 0.17
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 0.25 1 0.14
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 6 1 0.25 1 9.1E-02
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.20 1 0.12
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.20 1 0.12
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 0.20 2 0.29
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		5 2 1 0.20 2 0.33
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		5 0 1 0.20 0 0
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		6 2 1 0.17 2 0.33
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		8 0 1 0.12 0 0
CUI: C0014347
Disease: Enterobacteriaceae Infections
Enterobacteriaceae Infections 		9 0 1 0.11 0 0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		14 24 1 7.1E-02 1 3.4E-02
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		15 1 1 6.7E-02 1 0.17
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		17 1 1 5.9E-02 1 0.17
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 5.6E-02 2 6.5E-02
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 1 4.2E-02 1 3.0E-02
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 2 1 4.0E-02 1 0.14
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 1 1 4.0E-02 1 0.17
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		25 0 1 4.0E-02 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 1 3.8E-02 0 0
CUI: C0563243
Disease: Poor coordination
Poor coordination 		26 0 1 3.8E-02 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 7 1 3.2E-02 1 8.3E-02
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		32 0 1 3.1E-02 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 15 1 2.8E-02 1 5.0E-02