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: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 32 0.12 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 34 0.12 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 70 0.12 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 38 0.12 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 71 0.12 1 1.3E-02
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 24 0.12 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 101 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 101 0.12 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 106 0.12 2 1.7E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 79 0.11 1 1.4E-02
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 37 0.11 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 68 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 52 0.11 5 4.9E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 74 0.11 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 22 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 22 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 22 0.11 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 22 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 22 0.11 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 69 0.10 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 67 9.8E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 45 9.8E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 40 9.7E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 92 9.5E-02 0 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		52 0 21 9.5E-02 0 0