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: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 40 8.2E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 9 8.1E-02 2 3.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 39 8.0E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 50 8.0E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 9 7.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 46 7.9E-02 1 5.0E-03
CUI: C0236018
Disease: Aura
Aura 		83 0 11 7.7E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		83 0 11 7.7E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 45 7.6E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 42 7.6E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		88 0 11 7.5E-02 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 10 7.5E-02 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 0 39 7.2E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 15 7.1E-02 2 6.1E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 43 7.1E-02 2 3.6E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 39 6.9E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 51 6.4E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 51 6.4E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 8 6.3E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 13 6.3E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 52 6.1E-02 1 9.6E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 16 6.0E-02 2 4.8E-03
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 8 6.0E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 50 5.8E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 16 5.7E-02 1 2.8E-02