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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
334 62 295 0.20 13 2.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
551 261 330 0.20 9 1.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
491 39 320 0.20 12 2.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
351 49 297 0.20 21 3.9E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
496 66 319 0.20 22 4.0E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
476 0 313 0.19 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
426 32 300 0.19 12 2.3E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
432 0 299 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 49 289 0.19 14 2.6E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
536 19 308 0.18 2 3.8E-03
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
407 0 288 0.18 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 286 0.18 13 2.4E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 35 266 0.17 10 1.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 29 260 0.16 13 2.5E-02
CUI: C0086543
Disease: Cataract
Cataract
561 13 278 0.16 3 5.8E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
319 21 244 0.16 6 1.2E-02
CUI: C1854301
Disease: Motor delay
Motor delay
381 34 233 0.15 7 1.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
335 611 227 0.14 15 1.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
446 0 241 0.14 0 0
CUI: C0013421
Disease: Dystonia
Dystonia
335 61 222 0.14 19 3.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 22 218 0.14 7 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 208 0.14 27 4.9E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
363 0 222 0.14 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
308 34 214 0.14 10 1.9E-02
Sensorineural Hearing Loss (disorder)
622 44 248 0.14 8 1.5E-02