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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 141 7.5E-02 12 2.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 105 0.10 9 5.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 125 5.6E-02 8 1.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 61 7.2E-02 8 7.5E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 70 0.16 6 6.4E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 30 6.1E-02 6 6.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 46 0.12 6 6.5E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 68 0.18 5 4.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 23 7.0E-02 5 1.9E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		24 9 9 4.3E-02 4 0.13
CUI: C0009806
Disease: Constipation
Constipation 		424 57 44 7.7E-02 4 5.1E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 60 5.5E-02 4 6.7E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 30 9.0E-02 4 5.3E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 20 7.1E-02 4 8.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 94 0.14 4 1.9E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 76 0.20 4 4.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 27 4.7E-02 4 7.0E-02
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		1 25 1 5.2E-03 4 8.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 68 5.5E-02 3 7.2E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 29 5.3E-02 3 4.1E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 22 5.4E-02 3 7.7E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 84 0.16 3 3.1E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 1.4E-02 3 5.0E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 65 6.7E-02 3 6.8E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 28 7.5E-02 3 6.9E-03