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: C0239234
Disease: Low set ears
Low set ears 		489 0 97 0.12 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 52 0.12 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 56 0.12 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 62 0.12 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 64 0.12 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 64 0.12 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 151 0.12 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 52 0.11 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 49 0.11 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 260 0.11 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 71 0.11 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 55 0.11 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 61 0.11 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 59 0.11 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 60 0.11 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 139 0.11 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 70 0.11 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 149 0.11 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 46 0.11 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 50 0.11 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 95 0.11 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 68 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 107 0.11 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 49 0.11 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 67 0.11 0 0