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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		2078 990 59 2.5E-02 1 9.8E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		852 704 24 2.0E-02 1 1.4E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 54 6.1E-02 3 4.5E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 75 0.10 3 4.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 185 0.16 6 9.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 201 8.6E-02 3 5.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 245 0.12 7 1.2E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 36 6.4E-02 3 6.8E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 77 5.4E-02 4 9.4E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 24 4.0E-02 2 5.0E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 115 6.1E-02 1 2.6E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 79 5.2E-02 1 2.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 74 7.0E-02 1 2.7E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 61 4.4E-02 1 2.7E-03
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 103 5.1E-02 1 3.0E-03
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		10 292 2 5.1E-03 1 3.1E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 150 0.11 4 1.2E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		1478 271 48 2.6E-02 1 3.3E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		194 269 8 1.4E-02 1 3.3E-03
CUI: C0344315
Disease: Depressed mood
Depressed mood 		1461 269 43 2.4E-02 1 3.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 45 6.4E-02 2 7.2E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 29 5.6E-02 3 1.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 157 0.20 12 5.6E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 10 2.2E-02 3 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 237 0.22 5 2.6E-02