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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 60 0.14 1 1.9E-02
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 15 0.13 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 15 0.13 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 39 0.13 1 1.3E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 31 0.13 1 5.6E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 16 0.13 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 14 0.12 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 15 0.12 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 14 0.12 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 16 0.12 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 14 0.12 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 14 0.12 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 28 0.12 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 28 0.12 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 24 0.12 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 27 0.12 0 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		34 0 15 0.11 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 14 0.11 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 21 0.11 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		26 0 14 0.11 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		36 0 15 0.11 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 29 0.11 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 16 0.11 0 0
CUI: C0239594
Disease: Short finger
Short finger 		37 0 14 0.10 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		39 0 14 0.10 0 0