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: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 40 62 0.13 7 5.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 97 0.13 5 4.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 85 0.13 1 9.3E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 83 0.13 1 8.7E-03
CUI: C0239676
Disease: High forehead
High forehead 		211 17 74 0.13 2 2.0E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 81 0.13 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 133 0.13 2 4.7E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 74 0.13 2 1.9E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 103 0.13 5 3.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 250 0.12 10 1.6E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 75 0.12 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 76 0.12 1 9.2E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 78 0.12 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 81 0.12 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 70 0.12 4 3.8E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 129 0.12 1 5.1E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		267 80 73 0.12 8 5.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 86 0.12 4 3.0E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 82 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 73 0.12 4 3.4E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 153 0.12 1 9.3E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 126 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 126 0.12 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 103 0.12 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 70 0.12 2 4.6E-03