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: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		1 1 1 1.00 1 7.7E-02
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		2 2 1 0.50 1 7.1E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		24 0 1 4.2E-02 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 2.4E-02 0 0
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance 		47 0 1 2.1E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 2.0E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.4E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.3E-02 0 0
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		78 0 1 1.3E-02 0 0
CUI: C0026946
Disease: Mycoses
Mycoses 		94 0 1 1.1E-02 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		105 0 1 9.5E-03 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 1 8.0E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 7.9E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 7.0E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 6.6E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 6.2E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 5.9E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 1 5.3E-03 5 3.7E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 1 4.8E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 4.7E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 2 4.7E-03
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 4.6E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 4.5E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 0 1 4.3E-03 0 0