Source: INFERRED ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 92 0.21 75 9.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 52 0.15 13 2.0E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 49 0.13 1 3.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 132 0.13 101 0.14
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 70 0.11 4 1.5E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 82 0.11 2 7.8E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		335 61 54 0.11 3 1.0E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 44 0.11 26 4.6E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		228 0 43 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 0 52 0.11 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 35 0.11 5 1.0E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 65 0.11 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 110 0.11 1 2.5E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		178 0 36 0.11 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		246 10 42 0.10 2 8.1E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 32 59 0.10 2 7.4E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 50 0.10 2 6.7E-03
CUI: C0040822
Disease: Tremor
Tremor 		345 21 51 0.10 2 7.7E-03
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		84 0 26 0.10 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		244 181 40 1.0E-01 2 4.8E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		470 42 60 9.9E-02 4 1.4E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		407 0 54 9.8E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 0 63 9.8E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 67 9.8E-02 5 1.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 38 9.7E-02 3 9.7E-03