Source: ALL
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 49 176 0.19 5 3.8E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 210 0.19 1 4.1E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 180 0.19 3 1.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 449 0.19 31 5.1E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 186 0.19 7 4.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 179 0.18 7 1.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 152 0.18 4 3.2E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 154 0.18 1 9.1E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 193 0.18 1 7.2E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 168 0.17 3 2.5E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 164 0.17 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 162 0.17 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 179 0.17 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 206 0.16 3 7.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 180 0.16 14 5.2E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 221 0.16 1 4.7E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 138 0.16 1 9.6E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 217 0.16 3 1.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 146 0.16 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 142 0.16 1 7.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 148 0.16 2 1.1E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 196 0.15 2 1.0E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 128 0.15 2 1.8E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 135 0.15 3 2.8E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 121 0.15 4 4.0E-02