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: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 35 0.18 5 0.16
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 68 0.14 5 7.2E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 38 0.14 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 47 0.14 7 7.8E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 70 0.12 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 35 0.12 3 8.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 66 0.12 8 7.0E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 28 0.12 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 7 25 0.12 1 3.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 75 0.11 4 5.8E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 61 0.11 3 3.6E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 28 0.11 4 8.3E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 40 0.10 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 32 0.10 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 56 0.10 1 1.5E-02
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 20 9.9E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 62 9.8E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 9 22 9.6E-02 1 3.0E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 18 9.4E-02 1 6.8E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 42 9.4E-02 2 1.9E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 40 9.2E-02 1 1.1E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 10 22 8.9E-02 1 2.9E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 25 8.9E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 50 8.9E-02 1 1.1E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 37 8.5E-02 3 4.7E-02