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 5.6E-02 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 2 9.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 6.3E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci
7 0 1 4.2E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.7E-02 0 0
Abnormal aggressive, impulsive or violent behavior
2 0 1 5.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 4 4.3E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 1 4.5E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 5.3E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 3.6E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
4 0 1 4.8E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 2 3.9E-02 0 0
Abnormal subcutaneous fat tissue distribution
9 0 1 3.8E-02 0 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums
4 0 1 4.8E-02 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
4 0 1 4.8E-02 0 0
Abnormality of alkaline phosphatase activity
1 0 1 5.6E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
22 0 2 5.3E-02 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.7E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 8.8E-03 0 0
Abnormality of endocrine pancreas physiology
4 0 1 4.8E-02 0 0
Abnormality of exocrine pancreas physiology
3 0 1 5.0E-02 0 0
Abnormality of metabolism/homeostasis
171 0 2 1.1E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
26 0 1 2.3E-02 0 0
Abnormality of pelvic girdle bone morphology
55 0 2 2.8E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 3 1.3E-02 0 0