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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 118 0.24 8 0.14
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 73 0.21 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 98 0.18 1 2.2E-02
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 51 0.18 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 65 0.18 2 5.9E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
41 0 37 0.17 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 41 0.17 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 0 114 0.17 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 37 0.17 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 90 0.16 3 5.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 108 0.16 6 6.8E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 51 0.16 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
282 16 66 0.15 1 3.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 107 0.15 3 4.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 72 0.15 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 38 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 106 0.15 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 22 68 0.15 1 2.6E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 63 0.15 1 1.8E-02
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
67 0 35 0.14 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 152 0.14 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 88 0.14 1 1.2E-02
CUI: C1854114
Disease: Short nose
Short nose
265 23 58 0.14 4 0.11
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
446 52 78 0.13 1 1.5E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
227 0 52 0.13 0 0