Source: INFERRED ×
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 		1458 505 22 1.5E-02 4 7.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 19 1.5E-02 4 8.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 17 7.7E-02 5 1.1E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 320 1 3.2E-02 2 5.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 18 1.6E-02 3 9.2E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 8 4.4E-02 3 1.1E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		307 245 4 1.2E-02 1 3.6E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		196 240 11 5.2E-02 1 3.6E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 19 3.4E-02 1 4.4E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		244 181 13 5.0E-02 1 4.6E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		163 172 2 1.1E-02 1 4.8E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 17 1.8E-02 2 1.0E-02
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		7 135 2 6.1E-02 1 5.9E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		310 125 2 6.0E-03 1 6.3E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 4 3.5E-02 1 6.5E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 6 1.7E-02 3 2.7E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 76 11 4.5E-02 1 9.0E-03
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		1 64 1 3.6E-02 1 1.0E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 11 2.3E-02 3 3.2E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 5 7.5E-02 1 1.1E-02
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1 57 1 3.6E-02 2 2.2E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 1.5E-02 1 1.1E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 12 6.4E-02 2 2.3E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		269 48 8 2.8E-02 1 1.2E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		271 46 3 1.0E-02 1 1.2E-02