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: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 91 0.24 103 0.16
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 62 0.20 63 0.11
CUI: C0036572
Disease: Seizures
Seizures 		237 417 58 0.17 70 0.12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 39 0.16 27 7.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 66 0.15 29 3.6E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 33 0.15 25 7.6E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 32 0.15 31 9.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 44 0.14 58 0.12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 33 0.13 23 5.5E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 56 0.13 12 1.4E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 24 0.12 13 4.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 22 0.12 17 6.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 22 0.12 21 7.1E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 34 0.12 5 1.0E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 20 0.11 14 4.8E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 20 0.11 15 5.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 20 1.0E-01 20 6.4E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 18 9.7E-02 15 5.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 17 9.0E-02 24 8.5E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 15 8.7E-02 14 5.2E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 18 8.3E-02 7 2.1E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 15 8.1E-02 20 7.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 29 7.9E-02 2 3.4E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 13 7.8E-02 9 3.5E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 13 7.8E-02 12 4.7E-02