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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 53 5.0E-02 4 6.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 97 4.4E-02 6 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 103 5.5E-02 4 7.1E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 53 5.7E-02 1 2.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 21 6.3E-02 6 1.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 54 4.5E-02 3 7.4E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 7 7.0E-03 1 2.6E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 57 3.3E-02 1 2.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 21 2.4E-02 3 8.6E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 32 1.7E-02 1 3.2E-03
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		10 292 1 6.6E-03 1 3.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 58 4.8E-02 1 3.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 33 7.0E-02 2 7.7E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 16 5.6E-02 6 2.4E-02
CUI: C0030193
Disease: Pain
Pain 		1554 196 31 1.9E-02 1 4.8E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 73 0.12 1 4.9E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 13 2.1E-02 1 5.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 92 9.1E-02 3 1.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 35 3.7E-02 1 6.8E-03
CUI: C0011334
Disease: Dental caries
Dental caries 		330 126 7 1.5E-02 1 7.2E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 39 0.13 1 7.2E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 10 3.3E-02 2 1.5E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 32 3.1E-02 1 7.5E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 45 8.3E-02 1 7.5E-03
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		4 98 1 6.8E-03 1 9.0E-03