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: C3149083
Disease: Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex III 		5 0 5 0.12 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 13 0.11 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 11 9 0.11 1 7.7E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 28 9.4E-02 0 0
CUI: C4020800
Disease: Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV 		6 0 4 9.3E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 9.3E-02 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 29 9.2E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 29 8.9E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 8 8.7E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 13 7.9E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 4 7.3E-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 7.0E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 28 6.9E-02 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 4 6.9E-02 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 29 6.7E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 32 6.6E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 31 6.6E-02 0 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis 		8 0 3 6.5E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 15 6.2E-02 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 7 6.1E-02 0 0