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: C4022160
Disease: Motheaten muscle fibers
Motheaten muscle fibers 		1 1 1 0.50 1 0.33
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		1 0 1 0.50 0 0
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		3 0 1 0.25 0 0
CUI: C4476567
Disease: Reduced brain choline level by MRS
Reduced brain choline level by MRS 		3 3 1 0.25 1 0.20
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		4 2 1 0.20 1 0.25
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.17 1 0.20
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		7 2 1 0.12 2 0.67
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		10 1 1 9.1E-02 1 0.33
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		11 1 1 8.3E-02 1 0.33
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 1 8.3E-02 1 1.0E-01
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 2 1 7.7E-02 2 0.67
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		12 5 1 7.7E-02 1 0.14
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 2 1 7.7E-02 1 0.25
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 6 1 5.9E-02 1 0.12
CUI: C0041105
Disease: Trismus
Trismus 		18 2 1 5.3E-02 1 0.25
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 4.8E-02 0 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		23 2 1 4.2E-02 1 0.25
CUI: C1850573
Disease: Slender build
Slender build 		31 0 1 3.1E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 8 1 3.0E-02 2 0.22
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 1 2.9E-02 0 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 4 1 2.6E-02 1 0.17
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 2 2.6E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 2.2E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.9E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 5 1 1.8E-02 2 0.33