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: C1836830
Disease: Developmental regression
Developmental regression 		333 80 91 0.19 12 0.13
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 71 0.17 1 2.6E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 8 48 0.16 2 6.1E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 86 0.16 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 88 0.16 2 3.5E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 87 0.14 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 116 0.14 3 2.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 146 0.14 8 1.3E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 97 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 64 0.14 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 52 0.13 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 39 0.13 1 2.9E-02
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 5 40 0.13 1 3.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 92 0.13 3 4.2E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 40 0.13 2 2.7E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 54 0.12 2 3.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 140 0.12 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 49 0.12 6 6.5E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 44 0.12 1 6.6E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 55 0.12 1 1.7E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 61 0.12 1 3.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 108 0.11 7 6.1E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 43 0.11 1 2.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 119 0.11 4 2.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 101 0.11 0 0