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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 7.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.0E-02 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 1.7E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
1 0 1 1.8E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 6 2 1.3E-02 1 6.7E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 18 3 8.5E-03 1 3.7E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 1.6E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.1E-02 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 1.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 11 1.2E-02 0 0
Abnormal best corrected visual acuity test
2 0 1 1.8E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 1.5E-02 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification
3 0 1 1.8E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.4E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
9 0 1 1.6E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 4 3.6E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 8.1E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.1E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 2 2.4E-02 1 2.2E-02
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification
4 0 1 1.7E-02 0 0
Abnormal fear/anxiety-related behavior
5 0 1 1.7E-02 0 0
Abnormal form of the vertebral bodies
89 0 2 1.4E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 1.7E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement
22 0 1 1.3E-02 0 0
Abnormal lower motor neuron morphology
23 0 1 1.3E-02 0 0