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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
336 579 26 6.3E-02 2 2.8E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
162 0 15 6.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
61 85 8 5.1E-02 4 1.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
335 611 20 4.8E-02 2 2.7E-03
CUI: C0036572
Disease: Seizures
Seizures
237 417 15 4.6E-02 10 1.9E-02
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
15 0 5 4.4E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
41 56 6 4.3E-02 1 5.4E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
74 0 7 4.1E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
28 39 5 4.0E-02 1 5.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 10 4.0E-02 1 2.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
303 505 15 3.8E-02 3 4.7E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
37 94 5 3.7E-02 1 4.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
128 164 8 3.6E-02 1 3.4E-03
CUI: C1854882
Disease: Absent speech
Absent speech
46 72 5 3.5E-02 2 1.0E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
17 21 4 3.4E-02 1 6.6E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
237 0 11 3.3E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 10 3.3E-02 14 2.7E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
25 28 4 3.2E-02 2 1.3E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
26 35 4 3.2E-02 3 1.8E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
26 0 4 3.2E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
62 83 5 3.1E-02 2 9.4E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
30 32 4 3.1E-02 1 6.2E-03
CUI: C0014877
Disease: Esotropia
Esotropia
33 38 4 3.0E-02 2 1.2E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
39 0 4 2.9E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
39 0 4 2.9E-02 0 0