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: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 9 6.5E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 12 6.5E-02 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 4 6.2E-02 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		102 0 8 6.2E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 6 5.7E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 26 5.6E-02 0 0
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		2 0 2 5.6E-02 0 0
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency 		2 0 2 5.6E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 7 5.5E-02 0 0
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		3 0 2 5.4E-02 0 0
CUI: C3811915
Disease: SUCLA2
SUCLA2 		3 0 2 5.4E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 10 5.4E-02 0 0
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 0 2 5.3E-02 0 0
CUI: C3502298
Disease: Lactic Acidosis, Fatal Infantile
Lactic Acidosis, Fatal Infantile 		4 0 2 5.3E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 6 5.2E-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 2 5.1E-02 0 0
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		5 0 2 5.1E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 17 5.1E-02 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 5 5.1E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 25 5.0E-02 0 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		6 0 2 5.0E-02 0 0
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		6 0 2 5.0E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 22 5.0E-02 0 0
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		49 0 4 4.9E-02 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 2 4.9E-02 0 0