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: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 69 0.13 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 53 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 77 0.13 3 3.3E-02
CUI: C0008489
Disease: Chorea
Chorea 		168 0 41 0.13 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 86 0.12 1 1.3E-02
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 33 0.12 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 47 0.12 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 44 0.12 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 135 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 120 0.12 3 1.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 52 0.11 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 34 0.11 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 27 0.11 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 74 0.11 2 9.1E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 59 0.11 1 1.6E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 65 0.11 2 3.1E-02
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 25 0.11 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 30 0.11 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 28 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 48 0.11 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 45 0.10 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 29 0.10 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 32 0.10 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 24 0.10 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 39 0.10 0 0