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: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 1.3E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 2 1.5E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 9.3E-03 0 0
Abnormal form of the vertebral bodies
89 0 2 1.2E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue
6 0 1 1.2E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 9.3E-03 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
4 0 1 1.2E-02 0 0
Abnormal morphology of the limbic system
1 0 1 1.3E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 7.9E-03 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
34 0 1 8.9E-03 0 0
Abnormal nasolacrimal system morphology
23 0 1 9.9E-03 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth
9 0 1 1.1E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 2 1.7E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
20 0 1 1.0E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
12 0 1 1.1E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 2 1.8E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
17 0 2 2.1E-02 0 0
Abnormal shape of the frontal region
2 0 1 1.3E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
19 0 1 1.0E-02 0 0
Abnormal subcutaneous fat tissue distribution
9 0 1 1.1E-02 0 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums
4 0 1 1.2E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 4 2.1E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 1 7.5E-03 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
4 0 1 1.2E-02 0 0
CUI: C0266782
Disease: Abnormal yolk sac
Abnormal yolk sac
1 0 1 1.3E-02 0 0