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: C1384666
Disease: hearing impairment
hearing impairment 		740 337 230 0.17 1 2.1E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 175 0.17 3 1.3E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 181 0.16 4 2.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 179 0.16 3 1.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 420 0.16 24 3.6E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 172 0.16 3 1.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 232 0.16 3 1.3E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 259 0.16 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 156 0.16 10 6.5E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 160 0.16 2 1.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 154 0.16 3 2.0E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 140 0.16 6 4.3E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 221 0.16 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 221 0.16 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 190 0.16 4 1.2E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 169 0.16 2 1.2E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 171 0.15 3 4.0E-03
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 21 141 0.15 4 2.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 151 0.15 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 140 0.15 4 2.7E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 147 0.15 4 2.3E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 156 0.15 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 7 148 0.15 2 1.4E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 215 0.14 1 3.9E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 210 0.14 0 0