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 1.1E-02 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 2 2.0E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 3 2.5E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 6.3E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 2 1.9E-02 0 0
CUI: C4021839
Disease: Abnormal dense granule content
Abnormal dense granule content
1 0 1 1.1E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 1.0E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 7.9E-03 0 0
Abnormal fear/anxiety-related behavior
5 0 1 1.1E-02 0 0
Abnormal form of the vertebral bodies
89 0 4 2.3E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
4 0 1 1.1E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement
22 0 1 9.1E-03 0 0
Abnormal lactate dehydrogenase activity
19 0 1 9.3E-03 0 0
Abnormal liver parenchyma morphology
4 0 1 1.1E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
30 0 2 1.7E-02 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
10 0 1 1.0E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 7.3E-03 0 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology
8 0 1 1.0E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
19 0 1 9.3E-03 0 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
15 0 2 2.0E-02 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification
7 0 1 1.1E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 6.8E-03 0 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
10 0 1 1.0E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
12 0 1 1.0E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 2 1.6E-02 0 0