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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 130 0.15 2 2.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 364 0.15 7 1.2E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 138 0.15 1 9.0E-03
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 106 0.15 2 3.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 356 0.15 3 1.5E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 110 0.15 1 1.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 179 0.14 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 113 0.14 1 1.4E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 105 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 144 0.14 2 1.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 129 0.14 3 2.8E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 115 0.14 5 1.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 97 0.14 5 4.3E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 106 0.14 2 1.7E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 188 0.13 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 140 0.13 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 200 0.13 5 1.5E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 92 0.13 3 4.2E-02
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 92 0.13 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 146 0.13 4 3.0E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 80 0.13 2 2.7E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 86 0.12 1 1.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 203 0.12 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 102 0.12 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 83 0.12 2 1.2E-02