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: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 2897 99 3.1E-02 2 6.8E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		1183 839 42 2.8E-02 2 2.3E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 28 3.1E-02 1 1.5E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 93 0.13 2 3.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 144 0.12 8 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 265 0.12 20 3.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 321 0.17 21 3.6E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 65 5.6E-02 3 6.4E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 48 8.8E-02 5 1.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		491 375 19 2.2E-02 1 2.4E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 27 2.2E-02 3 7.2E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 54 9.3E-02 2 5.0E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 102 5.3E-02 1 2.5E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 74 7.0E-02 3 7.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 140 0.10 10 3.0E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 43 8.6E-02 15 5.4E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 15 1.5E-02 1 3.7E-03
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		383 222 6 7.9E-03 1 3.7E-03
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		49 205 7 1.6E-02 1 4.0E-03
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		1 201 1 2.6E-03 1 4.0E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 32 2.8E-02 1 4.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 136 0.17 8 3.4E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 10 2.1E-02 1 4.3E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 62 7.6E-02 2 9.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 222 0.20 9 4.4E-02