Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 2.3E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 1 1.7E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 2.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 6.1E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect
8 0 1 2.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 4 4.3E-03 0 0
Abnormal cardiac exercise stress test
16 0 12 0.35 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 1 2.2E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 1.5E-02 0 0
Abnormal muscle fiber protein expression
2 0 1 3.2E-02 0 0
Abnormal nasolacrimal system morphology
23 0 1 1.9E-02 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology
6 0 1 2.9E-02 0 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave
20 0 12 0.32 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 6.9E-03 0 0
Abnormality of cardiovascular system morphology
198 0 2 8.8E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 8.0E-03 0 0
Abnormality of metabolism/homeostasis
171 0 1 5.0E-03 0 0
Abnormality of mitochondrial metabolism
21 0 1 2.0E-02 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color
8 0 1 2.7E-02 0 0
Abnormality of prenatal development or birth
23 0 12 0.29 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
140 0 2 1.2E-02 0 0
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares
8 2 1 2.7E-02 1 1.8E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
89 0 1 8.5E-03 0 0
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair
7 0 1 2.8E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
19 0 1 2.1E-02 0 0