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: C0038379
Disease: Strabismus
Strabismus 		716 89 120 0.11 1 7.1E-03
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 71 0.11 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 104 0.11 3 1.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 147 0.11 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 205 0.10 8 2.0E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 130 0.10 1 2.1E-03
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 65 0.10 1 1.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 167 0.10 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 134 0.10 2 1.2E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 77 0.10 1 1.4E-02
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 98 0.10 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 64 0.10 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 151 0.10 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 37 63 1.0E-01 2 2.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 146 9.8E-02 1 2.2E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 67 9.7E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 74 9.7E-02 3 2.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 88 9.6E-02 1 8.8E-03
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 113 9.6E-02 4 3.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 139 9.5E-02 4 1.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 118 9.4E-02 1 5.4E-03
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 92 9.3E-02 0 0
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		1515 85 174 9.3E-02 6 4.6E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 17 55 9.2E-02 1 1.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 62 9.2E-02 0 0