Source: CLINVAR ×
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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 5.8E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 7.1E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 7.4E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 3 8.7E-03 1 1.5E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 3 8.7E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 9.9E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 2 1.0E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 1.2E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 4 1.3E-02 1 1.7E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 3 1.4E-02 1 2.0E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.4E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 1 1.5E-02 1 6.9E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 4 1.6E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 1.8E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.8E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.9E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.0E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 2.0E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.0E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 1 2.1E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 2.1E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 2 2.2E-02 1 5.7E-03