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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 1 1.1E-03 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 0 1 2.0E-03 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 6.7E-02 0 0
CUI: C0149854
Disease: Cerebellar hemorrhage
Cerebellar hemorrhage 		2 0 1 0.50 0 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		26 0 1 3.8E-02 0 0
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		1658 0 1 6.0E-04 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 0 1 5.7E-04 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: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		8 0 1 0.12 0 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		7 0 1 0.14 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		5 0 1 0.20 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 8.7E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		875 0 1 1.1E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 1 7.9E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 8.5E-03 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		102 0 1 9.8E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 0 1 4.3E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 1 2.4E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.3E-02 0 0