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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 45 7.7E-02 1 1.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 60 5.5E-02 4 5.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 154 7.0E-02 18 2.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 149 8.0E-02 8 1.2E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 69 7.2E-02 1 1.8E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 7.3E-02 7 1.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 80 6.6E-02 3 5.8E-03
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		4 392 3 1.6E-02 3 5.8E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 12 1.2E-02 1 2.0E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 23 5.8E-02 1 2.0E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		146 349 4 1.2E-02 1 2.1E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 67 3.8E-02 1 2.1E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 120 9.4E-02 10 2.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 18 2.0E-02 1 2.2E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 55 4.6E-02 1 2.2E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 41 8.1E-02 2 5.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 18 5.5E-02 4 1.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 71 0.11 1 3.2E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 19 2.9E-02 1 3.4E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 108 0.10 5 1.8E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 135 6.1E-02 3 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 30 3.0E-02 1 3.8E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 13 4.7E-02 1 3.9E-03
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 122 32 0.15 8 3.3E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 41 3.9E-02 1 4.1E-03