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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 58 0.12 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 48 0.12 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 49 0.11 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 50 0.11 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 22 0.11 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 50 0.11 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 23 0.10 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 14 9.7E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 50 9.6E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 52 9.6E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 59 9.5E-02 2 1.0E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 0 16 9.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 47 9.0E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 53 8.2E-02 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 10 8.2E-02 0 0
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		44 0 12 8.0E-02 0 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		18 0 10 7.9E-02 0 0
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 10 7.7E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 0 15 7.7E-02 0 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		11 0 9 7.5E-02 0 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 0 9 7.4E-02 0 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		12 0 9 7.4E-02 0 0
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		100 0 15 7.4E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 13 7.4E-02 0 0
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		13 0 9 7.4E-02 0 0