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: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 0.13 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 74 0.13 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 27 0.13 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 27 0.12 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 29 0.12 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 80 0.12 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 31 0.12 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 51 0.12 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 31 0.12 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 109 0.12 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 83 0.12 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 29 0.11 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 3 25 0.11 2 9.1E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 25 0.11 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 25 0.11 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 25 0.11 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 25 0.11 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 25 0.11 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 52 0.11 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 78 0.11 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 81 0.11 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 26 0.11 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 26 0.10 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 29 0.10 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 100 0.10 1 1.1E-02