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: C0598106
Disease: Encephalomyelopathy
Encephalomyelopathy 		2 0 1 0.50 0 0
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		4 5 1 0.25 1 0.14
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		4 0 1 0.25 0 0
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		12 0 1 8.3E-02 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 1 8.3E-02 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 1 8.3E-02 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 1 8.3E-02 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 1 7.1E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 1 6.7E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 1 6.7E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 1 5.6E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 1 4.8E-02 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 1 4.8E-02 0 0
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		25 0 1 4.0E-02 0 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		31 0 1 3.2E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 1 3.1E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 1 3.0E-02 0 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		33 0 1 3.0E-02 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 3.0E-02 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 2.7E-02 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 1 2.6E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 2.6E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 2.5E-02 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: C1838993
Disease: Episodic vomiting
Episodic vomiting 		43 0 1 2.3E-02 0 0