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: C1401162
Disease: Carbohydrate intolerance
Carbohydrate intolerance 		0 1 0 0 1 1.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.4E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 1.7E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 1.7E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 1.8E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 1.8E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 1.9E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 1.9E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.0E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.0E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.1E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.2E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.3E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 2.4E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.5E-03 0 0
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		249 0 1 2.5E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 2.6E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 2.6E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 2.6E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 2.6E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.7E-03 0 0
CUI: C0005612
Disease: Birth Weight
Birth Weight 		214 0 1 2.7E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 2.7E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 2.7E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 2.8E-03 0 0