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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 69 0.13 1 1.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 58 0.13 1 9.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 73 0.13 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 55 0.13 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 60 0.12 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 37 0.12 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 83 0.12 5 6.0E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 54 0.12 2 3.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 79 0.12 1 1.1E-02
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 41 0.12 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 86 0.12 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 67 0.11 2 2.4E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 39 0.11 0 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 6 41 0.11 2 5.3E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 47 0.11 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 37 43 0.11 2 2.9E-02
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 41 0.11 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 43 0.11 1 2.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 120 0.11 2 1.0E-02
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 33 0.11 0 0
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 62 0.11 4 3.2E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 77 0.11 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 39 0.11 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 42 0.11 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 39 0.11 0 0