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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.6E-02 3 4.1E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 8 2.2E-02 2 2.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 7 2.1E-02 4 6.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 9 3.4E-02 2 4.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.1E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 4 1.6E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 5 2.2E-02 2 4.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 5 2.6E-02 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 3 1.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 3 1.8E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 3 1.9E-02 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 1.6E-02 1 3.7E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 5 4.4E-02 1 4.1E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 9.0E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 4 4.0E-02 34 5.2E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 6 6.2E-02 3 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 3 3.1E-02 3 1.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 3 3.1E-02 1 4.1E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.0E-02 1 4.3E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 3 3.1E-02 1 4.2E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 3 3.3E-02 1 4.6E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.1E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.1E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 2 2.4E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 2 2.4E-02 0 0