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: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome
1 0 1 9.1E-02 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 2 0.13 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3 0 1 7.7E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 3.3E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 2.5E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 4.5E-02 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 7.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 1 1.1E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 3.7E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology
13 0 1 4.3E-02 0 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
9 0 1 5.3E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 1 2.2E-02 0 0
Abnormality of alkaline phosphatase activity
1 0 1 9.1E-02 0 0
Abnormality of endocrine pancreas physiology
4 0 1 7.1E-02 0 0
Abnormality of exocrine pancreas physiology
3 0 1 7.7E-02 0 0
Abnormality of secondary sexual hair
7 0 1 5.9E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
148 0 1 6.3E-03 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
50 0 1 1.7E-02 0 0
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe
16 0 1 3.8E-02 0 0
CUI: C0000833
Disease: Abscess
Abscess
96 0 1 9.4E-03 0 0
Absence of secondary sex characteristics
44 0 1 1.9E-02 0 0
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma
65 0 1 1.3E-02 0 0
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
440 0 1 2.2E-03 0 0
Acute exacerbation of chronic obstructive airways disease
63 0 1 1.4E-02 0 0
CUI: C3266959
Disease: Acute focal bacterial nephritis
Acute focal bacterial nephritis
7 0 1 5.9E-02 0 0