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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 42 0.11 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 44 0.11 1 1.9E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 40 0.10 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 78 0.10 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 50 0.10 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 49 0.10 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 40 0.10 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 29 0.10 1 6.5E-03
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 44 0.10 3 7.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 64 1.0E-01 8 5.5E-02
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 16 36 9.9E-02 2 4.2E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 43 9.9E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 52 9.9E-02 1 9.3E-03
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 45 9.9E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 98 9.8E-02 1 7.8E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 93 9.8E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 93 9.8E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 63 9.7E-02 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 0 40 9.6E-02 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 42 9.5E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 127 9.4E-02 5 1.4E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 32 9.3E-02 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 14 30 9.2E-02 1 2.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 58 9.1E-02 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 52 9.1E-02 0 0