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: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		6 2 2 0.22 2 1.00
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 0.11 2 0.67
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		17 1 4 0.22 1 0.50
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		15 1 1 5.3E-02 1 0.50
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		25 1 1 3.4E-02 1 0.50
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 0.20 1 0.50
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 0.20 1 0.50
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 2 1 1.8E-02 1 0.33
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 2 1 3.4E-02 1 0.33
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 0.12 1 0.33
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		1 6 1 0.20 2 0.33
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.11 1 0.25
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.11 1 0.25
CUI: C0009024
Disease: Clonus
Clonus 		60 4 1 1.6E-02 1 0.20
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 6 1 0.12 1 0.14
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 7 1 2.9E-02 1 0.12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 8 1 9.4E-03 1 0.11
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 1 4.7E-03 2 9.5E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 2 9.0E-03 1 8.3E-02
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 4.5E-02 2 7.4E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 15 3 7.9E-02 1 6.2E-02
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 2 4.3E-02 1 6.2E-02
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		165 17 1 5.9E-03 1 5.6E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 1 5.7E-03 1 5.6E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 2 4.7E-03 2 4.8E-02