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: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 2 2.4E-02 1 2.3E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 2 2.1E-02 0 0
Abnormal Descemet membrane morphology
2 0 1 1.9E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 2 3.3E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 1.3E-02 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 2 2.2E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 1.6E-02 0 0
Abnormal fear/anxiety-related behavior
5 0 1 1.8E-02 0 0
Abnormal form of the vertebral bodies
89 0 5 3.7E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern
15 0 3 4.7E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
29 0 1 1.3E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 1 1.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 1.8E-02 0 0
Abnormal isoelectric focusing of serum transferrin
15 0 1 1.5E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
32 0 1 1.2E-02 0 0
Abnormal morphology of the limbic system
1 0 1 1.9E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 1.0E-02 0 0
Abnormal nasolacrimal system morphology
23 0 5 7.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 2.1E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 3 3.4E-02 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases
5 0 1 1.8E-02 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification
7 0 1 1.7E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 2 2.8E-02 0 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
9 0 1 1.7E-02 0 0
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex
2 1 1 1.9E-02 1 0.14