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: C0013491
Disease: Ecchymosis
Ecchymosis 		41 2 2 2.0E-02 2 0.40
CUI: C0031256
Disease: Petechiae
Petechiae 		11 5 1 1.4E-02 2 0.25
CUI: C0015190
Disease: Euthyroid Sick Syndromes
Euthyroid Sick Syndromes 		9 1 1 1.5E-02 1 0.20
CUI: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		14 1 1 1.4E-02 1 0.20
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		4 1 1 1.6E-02 1 0.20
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis 		13 1 1 1.4E-02 1 0.20
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		23 1 2 2.5E-02 1 0.20
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		3 1 1 1.6E-02 1 0.20
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 1 2 2.7E-02 1 0.20
CUI: C1142277
Disease: Brown urine
Brown urine 		1 1 1 1.7E-02 1 0.20
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 1 1 1.6E-02 1 0.20
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		3 1 1 1.6E-02 1 0.20
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		1 2 1 1.7E-02 1 0.17
CUI: C0013428
Disease: Dysuria
Dysuria 		17 3 1 1.3E-02 1 0.14
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		5 3 1 1.6E-02 1 0.14
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		31 3 1 1.1E-02 1 0.14
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 3 2 3.3E-02 1 0.14
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 1.6E-02 1 0.14
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		18 3 1 1.3E-02 1 0.14
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 1.6E-02 1 0.14
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		4 3 1 1.6E-02 1 0.14
CUI: C3665596
Disease: Warts
Warts 		39 3 1 1.0E-02 1 0.14
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		17 4 1 1.3E-02 1 0.12
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 7 6.4E-02 1 0.12
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 1.6E-02 1 0.12