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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 9.5E-04 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.7E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.8E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 1.9E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 1.9E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.9E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.0E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.0E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.1E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.1E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 0 1 2.2E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.4E-03 0 0
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		330 0 1 2.4E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.5E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.6E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.6E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.7E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 2.7E-03 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 1 2.7E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.7E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.7E-03 0 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		276 0 1 2.8E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.8E-03 0 0