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: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly
1 0 1 8.3E-02 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
4 0 1 6.7E-02 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 1 7.1E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
1 0 1 8.3E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 2 9.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 2 2.2E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 2 2.4E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.9E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 4.5E-02 0 0
Abnormal form of the vertebral bodies
89 0 1 1.0E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 2.5E-02 0 0
CUI: C1744601
Disease: Abnormal heart beat
Abnormal heart beat
2 0 1 7.7E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
34 0 1 2.2E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
20 0 1 3.2E-02 0 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination
2 0 1 7.7E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 2 2.9E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 1 3.1E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
13 0 1 4.2E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 6 1 7.9E-03 1 0.14
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 2 3.1E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
27 0 1 2.6E-02 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology
8 1 1 5.3E-02 1 0.50
Abnormality of cardiovascular system morphology
198 0 2 9.6E-03 0 0
Abnormality of chromosome segregation
5 0 1 6.2E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 1 9.3E-03 0 0