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: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 12 0.22 0 0
CUI: C0949855
Disease: Electron Transport Chain Deficiencies, Mitochondrial
Electron Transport Chain Deficiencies, Mitochondrial 		10 0 9 0.18 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 19 9.5E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 29 9.5E-02 0 0
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		36 0 7 9.0E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 8 8.5E-02 0 0
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer 		15 0 5 8.5E-02 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		80 0 10 8.4E-02 0 0
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia 		4 0 4 8.2E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 10 7.9E-02 0 0
CUI: C0032268
Disease: Pneumocephalus
Pneumocephalus 		6 0 4 7.8E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 14 7.8E-02 1 8.6E-03
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 6 7.8E-02 0 0
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		7 0 4 7.7E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 17 7.7E-02 0 0
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 0 4 7.5E-02 0 0
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		8 0 4 7.5E-02 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		8 0 4 7.5E-02 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 0 7 7.5E-02 0 0
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 7 7.5E-02 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 5 7.4E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 17 7.1E-02 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		12 0 4 7.0E-02 0 0
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 0 5 6.9E-02 0 0
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		15 0 4 6.7E-02 0 0