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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 80 9.8E-02 1 5.0E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 88 9.8E-02 3 1.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 69 9.8E-02 4 2.0E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 80 9.6E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 202 9.6E-02 18 2.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 126 9.6E-02 6 1.8E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 152 9.5E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 66 9.5E-02 3 1.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 75 9.3E-02 1 4.7E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 108 9.3E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 64 9.3E-02 1 5.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 89 9.3E-02 8 2.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 223 9.2E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 68 9.1E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 53 9.1E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 75 8.9E-02 2 7.9E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 100 8.8E-02 4 8.0E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 126 8.8E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 60 8.8E-02 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 63 8.6E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 69 8.6E-02 2 7.7E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 72 8.5E-02 2 1.0E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 55 8.5E-02 2 1.1E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 56 8.5E-02 1 5.3E-03
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 73 8.5E-02 0 0