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: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 11 1.2E-02 0 0
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology
4 0 2 2.3E-03 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count
2 0 1 1.2E-03 0 0
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology
3 0 2 2.3E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 124 7.5E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 12 1.3E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 4 4.6E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 2 2.3E-03 0 0
Abnormal brain FDG positron emission tomography
18 0 2 2.3E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 1.2E-03 0 0
CUI: C4476771
Disease: Abnormal bronchus physiology
Abnormal bronchus physiology
1 0 1 1.2E-03 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
14 0 3 3.5E-03 0 0
Abnormal cardiac ventricular function
6 0 1 1.2E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 1 1.2E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 3 3.5E-03 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 1 1.2E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 1.1E-03 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
12 0 1 1.2E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility
9 0 1 1.2E-03 0 0
Abnormal common carotid artery morphology
1 0 1 1.2E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 3 3.3E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 2 2.2E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 2 2.2E-03 0 0
Abnormal delayed hypersensitivity skin test
1 0 1 1.2E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 3 3.4E-03 0 0