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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.6E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.6E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 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 2.1E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.1E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.2E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.2E-03 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 1 2.3E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.4E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 456 1 2.4E-03 1 2.0E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.5E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 2.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.5E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.6E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.6E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.6E-03 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 1 2.7E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.7E-03 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 1 2.7E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.8E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.8E-03 0 0