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 30 0.14 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 9 0.14 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 11 0.13 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 19 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 21 0.11 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 34 0.11 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 12 0.10 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 1.0E-01 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 30 9.3E-02 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 4 9.1E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 7 8.4E-02 0 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		3 0 3 8.1E-02 0 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		3 0 3 8.1E-02 0 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		3 0 3 8.1E-02 0 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		3 0 3 8.1E-02 0 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		3 0 3 8.1E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 24 8.1E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 5 7.7E-02 0 0
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		5 0 3 7.7E-02 0 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		5 0 3 7.7E-02 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 32 7.5E-02 0 0
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		6 0 3 7.5E-02 0 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		6 0 3 7.5E-02 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 6 7.1E-02 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 3 7.1E-02 0 0