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 52 0.12 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 17 0.11 3 6.7E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 44 0.11 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 50 0.10 1 9.5E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 49 0.10 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 42 9.9E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 48 9.5E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 19 9.3E-02 0 0
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		8 0 7 9.2E-02 0 0
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		8 0 7 9.2E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 53 9.1E-02 1 5.0E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 53 8.8E-02 0 0
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		6 0 6 8.0E-02 0 0
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		6 0 6 8.0E-02 0 0
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		8 0 6 7.8E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		83 0 11 7.5E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 11 7.5E-02 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 10 8 7.4E-02 2 0.12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 18 7.4E-02 1 7.5E-03
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 0 10 7.2E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 11 7.2E-02 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 6 6.4E-02 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 10 6.2E-02 0 0
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		63 0 8 6.2E-02 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 6 6.1E-02 0 0