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: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 12 0.14 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 10 18 0.11 1 7.7E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 20 9.9E-02 0 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 0 8 9.3E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 10 9.1E-02 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 31 8.7E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 36 8.7E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 20 8.5E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 18 8.5E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 8 8.5E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 8 8.1E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 6 7.9E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 13 7.8E-02 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 14 7.7E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 21 7.6E-02 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 6 7.5E-02 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 15 7.4E-02 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 5 7.2E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 15 7.1E-02 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 10 7.0E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 19 6.9E-02 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 14 6.9E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 21 6.8E-02 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		13 0 5 6.7E-02 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 6 6.3E-02 0 0