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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 87 0.14 3 2.7E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 64 0.14 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 88 0.14 2 1.9E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 70 0.14 1 1.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 93 0.14 1 1.2E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 6 60 0.14 1 1.9E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 105 0.14 3 2.7E-02
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 9 55 0.14 1 1.8E-02
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 61 0.13 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 73 0.13 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 2 55 0.13 1 2.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 80 0.13 4 3.4E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 70 0.13 1 1.4E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 93 0.13 2 3.0E-03
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 52 0.13 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 286 0.13 1 4.8E-03
CUI: C0008489
Disease: Chorea
Chorea 		168 20 62 0.13 1 1.5E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 78 0.13 2 2.2E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 89 0.12 2 2.3E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 106 0.12 2 1.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 133 0.12 9 6.7E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 70 0.12 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 144 0.12 8 1.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 84 0.12 2 2.4E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 97 0.12 2 3.0E-02