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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 2.4E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 2.4E-03 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 1 2.4E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.4E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 1 2.4E-03 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 1 2.4E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 2.4E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 2.4E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 2.4E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.4E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 2.4E-03 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 1 2.5E-03 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 1 2.5E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 1 2.5E-03 0 0
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		109 0 1 2.5E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.5E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 2.5E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 2.5E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 2.5E-03 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 1 2.5E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.5E-03 0 0
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		104 0 1 2.5E-03 0 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		104 0 1 2.5E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.5E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 2.5E-03 0 0