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: C0008489
Disease: Chorea
Chorea 		168 20 52 0.11 1 3.8E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 88 0.11 1 3.8E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 90 0.11 1 3.2E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 236 0.10 8 1.0E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 14 84 0.10 1 3.8E-03
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 59 0.10 2 7.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 146 0.10 3 5.1E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 73 0.10 2 6.3E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 0 80 0.10 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 83 9.8E-02 1 3.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 195 9.8E-02 13 1.7E-02
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		100 15 41 9.7E-02 3 1.2E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 70 9.7E-02 2 7.2E-03
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 50 9.7E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 81 9.6E-02 5 1.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 94 9.6E-02 3 9.0E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 65 9.5E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 50 9.4E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 102 9.3E-02 4 1.2E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 69 9.2E-02 1 3.4E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 168 9.2E-02 6 1.0E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 65 9.2E-02 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 58 9.2E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 100 9.1E-02 1 1.5E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 49 9.0E-02 3 9.5E-03