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: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		1 0 1 0.33 0 0
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		1 0 1 0.33 0 0
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		1 2 1 0.33 1 0.50
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine 		2 0 1 0.25 0 0
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		8 0 2 0.22 0 0
CUI: C0342779
Disease: ATP synthase deficiency
ATP synthase deficiency 		3 0 1 0.20 0 0
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		3 1 1 0.20 1 1.00
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 0.20 1 0.25
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 3 1 0.17 1 0.33
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 3 0.15 0 0
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		5 3 1 0.14 1 0.33
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.14 1 0.33
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 1 1 0.14 1 1.00
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 0.14 1 0.33
CUI: C0016325
Disease: Fluoride Poisoning
Fluoride Poisoning 		6 0 1 0.12 0 0
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		7 0 1 0.11 0 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		11 54 1 7.7E-02 1 1.9E-02
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		12 0 1 7.1E-02 0 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 9 1 7.1E-02 1 0.11
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 1 1 5.0E-02 1 1.00
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		18 3 1 5.0E-02 1 0.33
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		21 0 1 4.3E-02 0 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.2E-02 1 3.7E-02
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		24 5 1 3.8E-02 1 0.20
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 10 1 3.0E-02 1 1.0E-01