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: C1384666
Disease: hearing impairment
hearing impairment 		740 337 387 0.18 9 1.0E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 360 0.18 13 2.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 351 0.17 8 1.3E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 416 0.17 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 321 0.17 21 3.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 333 0.17 22 3.7E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 327 0.17 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 318 0.17 18 3.2E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 414 0.17 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 311 0.16 12 2.1E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 323 0.16 2 3.5E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 308 0.16 17 1.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 295 0.15 14 2.4E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 297 0.15 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 298 0.15 13 2.2E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 356 0.15 3 4.5E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 384 0.15 22 2.4E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 396 0.15 26 3.0E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 397 0.15 3 4.5E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 442 0.15 3 3.3E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 286 0.14 6 1.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 272 0.14 10 1.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 277 0.14 19 3.0E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 320 0.14 16 1.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 269 0.14 13 2.3E-02