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: C4023073
Disease: EEG with temporal focal spikes
EEG with temporal focal spikes 		2 0 1 0.50 0 0
CUI: C0815123
Disease: neurobehavioral problems
neurobehavioral problems 		4 0 1 0.25 0 0
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		13 0 1 7.7E-02 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 0 1 5.6E-02 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 3.3E-02 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 3.3E-02 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 1 2.4E-02 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 1 2.2E-02 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 0 1 1.9E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 0 1 1.7E-02 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 0 1 1.4E-02 0 0
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		77 0 1 1.3E-02 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 0 1 7.1E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 1 7.1E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 5.8E-03 0 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		178 0 1 5.6E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		194 0 1 5.2E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 5.1E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0
CUI: C0002170
Disease: Alopecia
Alopecia 		491 0 1 2.0E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 2.0E-03 0 0