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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 200 0.42 255 0.27
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 125 0.24 88 8.8E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 112 0.24 87 0.10
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 96 0.24 101 0.14
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 86 0.19 45 4.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 89 0.18 52 5.5E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 66 0.15 29 3.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 58 0.14 28 3.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 53 0.13 9 1.2E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 42 0.11 28 4.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 40 0.10 24 3.6E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 44 9.1E-02 15 1.8E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 33 8.8E-02 6 9.0E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 34 8.7E-02 13 1.9E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 28 7.9E-02 10 1.6E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 29 7.9E-02 20 3.1E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 29 7.8E-02 13 1.9E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 28 7.6E-02 21 3.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 27 7.5E-02 17 2.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 27 7.3E-02 13 2.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 26 7.1E-02 7 1.1E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 25 7.0E-02 16 2.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 26 7.0E-02 7 1.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 25 6.8E-02 10 1.6E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 26 6.3E-02 2 2.8E-03