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: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		272 1169 2 3.8E-03 1 8.5E-04
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1675 954 63 3.4E-02 1 1.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 128 0.12 2 3.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 178 8.0E-02 3 5.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 146 7.5E-02 3 5.3E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 14 3.1E-02 1 2.4E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 14 2.9E-02 1 2.6E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 72 5.1E-02 1 2.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 72 5.5E-02 2 6.6E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 45 5.4E-02 1 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 35 5.9E-02 1 3.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 14 3.4E-02 2 7.8E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 27 3.4E-02 3 1.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 113 0.10 1 5.7E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 141 6.2E-02 1 5.9E-03
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		94 135 5 1.4E-02 1 6.9E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 8 1.9E-02 2 1.5E-02
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		74 119 2 6.0E-03 1 7.8E-03
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		423 112 20 3.0E-02 1 8.2E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 57 8.3E-02 2 1.8E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 74 0.12 1 9.3E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 44 8.0E-02 1 1.1E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 16 3.2E-02 2 2.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 59 7.4E-02 1 1.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 53 8.3E-02 1 1.2E-02