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: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 34 3.3E-03 2 1.2E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		1708 1577 4 2.3E-03 1 6.1E-04
CUI: C0004096
Disease: Asthma
Asthma 		2096 1536 8 3.7E-03 4 2.5E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 1085 9 3.8E-03 1 8.8E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 21 4.5E-02 3 4.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.2E-02 17 2.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 34 1.6E-02 15 2.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 40 2.2E-02 22 3.7E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 20 2.3E-02 3 6.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 15 6.1E-02 9 2.0E-02
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		59 402 1 9.3E-03 2 4.4E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 22 1.9E-02 8 1.8E-02
CUI: C0013595
Disease: Eczema
Eczema 		863 368 8 8.8E-03 2 4.7E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 8 2.9E-02 1 2.4E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 18 1.1E-02 1 2.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 25 2.2E-02 9 2.6E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 287 13 1.2E-02 1 2.9E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 5 7.6E-03 2 5.9E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 12 3.0E-02 2 6.6E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 20 0.11 15 5.2E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 4 5.8E-03 1 3.6E-03
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		49 205 1 1.0E-02 1 3.8E-03
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 205 1 1.0E-02 1 3.8E-03
CUI: C0030193
Disease: Pain
Pain 		1554 196 7 4.4E-03 1 4.0E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 24 4.1E-02 7 2.9E-02