Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Abnormal metaphyseal vascular invasion
1 0 1 1.8E-02 0 0
CUI: C4025707
Disease: Abnormal motor neuron morphology
Abnormal motor neuron morphology
1 0 1 1.8E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 9.7E-03 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
34 0 1 1.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 3 3.1E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 5 5.6E-02 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases
5 3 1 1.7E-02 1 8.3E-02
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics
5 0 1 1.7E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
21 0 1 1.3E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
13 0 3 4.6E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 3 4.3E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
15 0 1 1.4E-02 0 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave
20 0 1 1.4E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
28 0 2 2.5E-02 0 0
CUI: C4021571
Disease: Abnormal vestibulo-ocular reflex
Abnormal vestibulo-ocular reflex
1 0 1 1.8E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 5.9E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 2 1.3E-02 0 0
Abnormality of cardiovascular system morphology
198 0 2 8.0E-03 0 0
Abnormality of chromosome segregation
5 0 1 1.7E-02 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe
9 0 1 1.6E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 2 1.4E-02 0 0
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature
1 1 1 1.8E-02 1 1.0E-01
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger
8 0 1 1.6E-02 0 0
Abnormality of metabolism/homeostasis
171 0 1 4.4E-03 0 0
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers
2 0 1 1.8E-02 0 0