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: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 5.4E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 3 1.5E-02 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology
6 0 1 5.9E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 5.6E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 1 5.8E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 58 5.7E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 8 4.6E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS
2 0 1 6.0E-03 0 0
Abnormal cardiac exercise stress test
16 0 1 5.6E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 2 1.2E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 2 1.1E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
9 0 1 5.8E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
7 0 1 5.8E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 8 3.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 10 8 3.5E-02 1 3.8E-02
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 4.9E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 5.5E-03 0 0
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex
5 0 1 5.9E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 1 5.1E-03 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 5.7E-03 0 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
8 0 1 5.8E-03 0 0
Abnormal flash visual evoked potentials
2 0 1 6.0E-03 0 0
Abnormal form of the vertebral bodies
89 0 1 4.0E-03 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 2 1.2E-02 0 0
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue
6 0 3 1.8E-02 0 0