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: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		1 43 1 4.3E-03 32 8.4E-02
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		1 27 1 4.3E-03 20 5.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 110 4.8E-02 12 1.3E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 97 7.2E-02 9 1.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 110 4.8E-02 9 1.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 51 4.4E-02 8 8.5E-03
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		94 135 18 5.8E-02 8 1.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 24 4.4E-02 8 1.8E-02
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		11 8 2 8.2E-03 8 2.2E-02
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		1 8 1 4.3E-03 7 1.9E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 48 6.9E-02 6 1.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 39 3.7E-02 6 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 72 3.6E-02 6 6.6E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 123 0.10 5 6.6E-03
CUI: C0030193
Disease: Pain
Pain 		1554 196 81 4.7E-02 5 8.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 23 5.5E-02 5 6.5E-03
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		11 47 9 3.8E-02 5 1.2E-02
CUI: C0233794
Disease: Memory impairment
Memory impairment 		763 48 66 7.1E-02 4 9.7E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 106 6.0E-02 4 5.6E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 41 6.5E-02 4 4.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 33 4.3E-02 4 7.2E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 35 5.2E-02 4 8.5E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 91 7.5E-02 4 5.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 3.4E-02 4 6.6E-03
CUI: C0006325
Disease: Bruxism
Bruxism 		24 9 9 3.6E-02 3 8.0E-03