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: C0349588
Disease: Short stature
Short stature 		1127 292 199 0.14 11 3.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 182 0.14 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 129 0.14 3 2.8E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 109 0.13 4 3.9E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 121 0.13 1 8.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 301 0.13 23 3.9E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 90 0.13 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 302 0.13 1 4.5E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 198 0.13 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 151 0.13 4 2.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 152 0.13 1 7.8E-03
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 79 0.13 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 95 0.12 5 4.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 96 0.12 1 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 97 0.12 1 7.4E-03
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 79 0.12 1 1.1E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 97 0.12 2 3.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 69 0.12 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 95 0.11 4 2.6E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 66 0.11 3 3.7E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 90 0.11 4 4.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 106 0.11 1 7.2E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 119 0.11 1 7.1E-03
CUI: C0239676
Disease: High forehead
High forehead 		211 0 67 0.11 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 53 0.11 2 2.9E-02