Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Decreased mitochondrial complex III activity in liver tissue
2 0 1 0.50 0 0
CUI: C4476760
Disease: Visual fixation instability
Visual fixation instability
3 0 1 0.33 0 0
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes
5 0 1 0.20 0 0
Decreased activity of mitochondrial complex IV
6 0 1 0.17 0 0
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile
7 0 1 0.14 0 0
Decreased activity of mitochondrial complex II
7 0 1 0.14 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea
14 0 1 7.1E-02 0 0
CUI: C0239399
Disease: Short extremities
Short extremities
25 0 1 4.0E-02 0 0
Diastolic blood pressure measurement
35 0 1 2.9E-02 0 0
Decreased activity of the pyruvate dehydrogenase complex
35 0 1 2.9E-02 0 0
Disproportionate short-limb short stature
35 0 1 2.9E-02 0 0
CUI: C0018801
Disease: Heart failure
Heart failure
38 0 1 2.6E-02 0 0
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
45 0 1 2.2E-02 0 0
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
45 0 1 2.2E-02 0 0
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
54 0 1 1.9E-02 0 0
body fat percentage (physical finding)
56 0 1 1.8E-02 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
56 0 1 1.8E-02 0 0
CUI: C0011847
Disease: Diabetes
Diabetes
63 0 1 1.6E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
71 0 1 1.4E-02 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
71 0 1 1.4E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
74 0 1 1.4E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
75 0 1 1.3E-02 0 0
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
78 0 1 1.3E-02 0 0
CUI: C1853241
Disease: Flat face
Flat face
83 0 1 1.2E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 1 1.1E-02 0 0