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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 9 0.13 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 9 0.13 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 9 0.13 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 9 0.13 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 9 0.13 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 24 0.13 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 15 0.13 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 31 0.11 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 31 9.6E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 8 9.4E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 6 9.0E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 28 8.9E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 14 8.6E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal 		12 0 4 8.3E-02 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 4 8.3E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 4 8.3E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 4 8.3E-02 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 4 8.3E-02 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 4 8.0E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 4 7.8E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 4 7.7E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 5 7.5E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 4 7.4E-02 0 0
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		4 0 3 7.3E-02 0 0
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		4 0 3 7.3E-02 0 0