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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 79 9.9E-02 2 1.4E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 73 9.8E-02 3 1.8E-02
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 69 74 9.7E-02 1 6.6E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 53 9.7E-02 0 0
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 29 9.5E-02 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 28 9.4E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 76 9.3E-02 2 2.1E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 95 9.2E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 62 9.2E-02 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 13 28 9.1E-02 3 3.2E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 42 58 9.0E-02 1 8.0E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 55 8.9E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 62 8.7E-02 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 8 26 8.7E-02 1 1.1E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 44 28 8.7E-02 1 7.9E-03
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 26 8.6E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 33 8.5E-02 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 25 8.5E-02 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 1 25 8.5E-02 1 1.2E-02
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 25 8.5E-02 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 25 8.5E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 63 8.5E-02 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 25 8.4E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 294 94 8.4E-02 1 2.7E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 82 8.4E-02 0 0