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 177 5.4E-02 2 6.8E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		1183 839 76 4.5E-02 2 2.3E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 824 154 4.8E-02 1 1.1E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		384 698 25 2.7E-02 1 1.3E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 79 8.4E-02 1 1.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 210 0.16 4 6.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 364 0.15 7 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 360 0.18 13 2.2E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 126 9.7E-02 1 2.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 44 5.9E-02 7 1.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 137 8.8E-02 1 2.3E-03
CUI: C0013595
Disease: Eczema
Eczema 		863 368 43 3.1E-02 2 4.8E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 38 4.9E-02 1 2.4E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 223 0.11 1 2.5E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 102 8.4E-02 1 2.6E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 98 6.3E-02 1 2.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 200 0.13 5 1.5E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 66 5.9E-02 1 3.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 115 0.14 5 1.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 47 6.8E-02 15 5.4E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		383 222 19 2.0E-02 1 3.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 157 0.16 6 2.6E-02
CUI: C0497327
Disease: Dementia
Dementia 		816 176 132 0.10 1 4.5E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 66 6.6E-02 1 4.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 265 0.21 5 2.4E-02