Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
1 9 1 1.00 3 0.30
CUI: C0424688
Disease: Small head
Small head
11 0 1 9.1E-02 0 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention
16 4 1 6.2E-02 1 0.14
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
26 9 1 3.8E-02 1 8.3E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
41 0 1 2.4E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 2.0E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
60 0 1 1.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
64 0 1 1.6E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 1 1.3E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
79 0 1 1.3E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
83 0 1 1.2E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
105 0 1 9.5E-03 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
105 0 1 9.5E-03 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
107 0 1 9.3E-03 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
120 0 1 8.3E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
122 0 1 8.2E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
122 0 1 8.2E-03 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
123 0 1 8.1E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
138 0 1 7.2E-03 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
140 17 1 7.1E-03 1 5.0E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
144 0 1 6.9E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
146 0 1 6.8E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
159 0 1 6.3E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
161 0 1 6.2E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 1 6.2E-03 0 0