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 49 167 0.18 1 7.8E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 430 0.17 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 222 0.17 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 222 0.17 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 169 0.17 2 1.2E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 225 0.17 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 145 0.17 1 9.3E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 0 229 0.17 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 136 0.17 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 245 0.16 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 247 0.16 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 227 0.16 6 2.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 138 0.15 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 142 0.15 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 160 0.15 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 207 0.15 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 162 0.15 1 7.4E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 137 0.15 2 1.7E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 150 0.15 2 1.8E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 131 0.15 2 2.1E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 120 0.15 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 146 0.15 2 1.8E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 133 0.15 1 9.9E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 144 0.15 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 120 0.14 3 3.1E-02