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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 351 0.16 5 2.2E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 14 364 0.16 2 1.2E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 369 0.16 3 1.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 369 0.15 2 9.5E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 368 0.15 1 4.7E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 453 0.15 3 1.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 359 0.15 1 4.8E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 363 0.15 1 5.9E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 383 0.15 2 7.5E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 334 0.15 2 1.0E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 351 0.15 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 356 0.15 3 1.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 344 0.15 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 333 0.15 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 414 0.15 6 1.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 2897 644 0.15 7 2.3E-03
CUI: C0028754
Disease: Obesity
Obesity 		2821 1111 624 0.14 5 4.0E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 397 0.14 2 1.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 330 0.14 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 322 0.14 8 1.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 309 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 305 0.14 3 1.5E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 312 0.13 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 355 0.13 7 1.2E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 1215 0.13 6 3.9E-03