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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 239 0.19 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 231 0.19 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 243 0.19 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 254 0.19 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 226 0.18 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 249 0.18 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 285 0.17 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 226 0.17 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 236 0.16 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 273 0.16 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 207 0.16 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 203 0.16 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 215 0.15 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 195 0.15 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 191 0.14 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 186 0.14 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 167 0.14 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 175 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 180 0.14 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 201 0.14 1 1.1E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 219 0.14 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 180 0.14 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 167 0.14 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 180 0.13 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 177 0.13 1 1.6E-03