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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 79 0.13 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 52 0.12 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 245 0.12 7 1.2E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 51 0.12 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 12 74 0.12 1 2.2E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 53 0.12 1 2.4E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 57 0.12 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 64 0.12 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 61 0.12 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 60 0.12 1 1.7E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 100 0.12 3 3.8E-02
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 72 0.11 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 88 0.11 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 53 0.11 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 260 0.11 2 1.0E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 85 0.11 2 1.6E-02
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 60 0.11 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 50 0.11 1 2.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 145 0.11 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 139 0.11 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 55 0.11 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 50 0.11 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		210 0 59 0.11 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 150 0.11 4 1.2E-02
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 45 0.11 0 0