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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 1.8E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 8.2E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 2 2.2E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 2.0E-02 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
9 0 1 2.2E-02 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 2 4.9E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 7.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 5.9E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 1.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 11 1.2E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 2 3.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 1.4E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
7 0 1 2.3E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 4 3 3.2E-02 2 0.25
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.3E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 1 1.4E-02 0 0
Abnormal fear/anxiety-related behavior
5 0 2 4.9E-02 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification
3 0 1 2.5E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function
3 0 1 2.5E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 1 2.1E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 1 1.3E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 2.3E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology
6 0 2 4.8E-02 0 0
Abnormal lactate dehydrogenase activity
19 0 1 1.8E-02 0 0
Abnormal lower motor neuron morphology
23 0 2 3.4E-02 0 0