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: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 9 0.13 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 5 0.12 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 19 0.10 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 6 0.10 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 53 10 9.8E-02 2 3.4E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 6 9.7E-02 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 6 9.7E-02 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 6 9.7E-02 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 6 9.7E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 8 9.6E-02 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 6 9.5E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 10 9.2E-02 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 6 9.1E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 11 7 9.0E-02 1 5.6E-02
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		29 0 5 8.9E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 4 8.7E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 19 8.6E-02 2 7.4E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 13 8.0E-02 1 8.3E-03
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		9 0 3 7.9E-02 0 0
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		9 0 3 7.9E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 5 7.6E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 22 7.5E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 5 7.5E-02 0 0
CUI: C0028734
Disease: Nocturia
Nocturia 		28 0 4 7.1E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 7 7.1E-02 0 0