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 		303 505 114 0.27 138 0.18
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 66 0.22 41 7.6E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 81 0.22 92 0.12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 89 0.18 52 5.5E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 58 0.17 70 0.12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 52 0.17 50 8.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 78 0.16 14 1.4E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 50 0.14 7 1.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 32 0.12 22 4.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 33 0.11 23 4.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 31 0.11 23 4.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 28 0.11 28 6.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 29 0.11 31 6.6E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 28 0.10 14 2.7E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 42 9.7E-02 1 1.3E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 26 9.5E-02 22 4.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 23 9.3E-02 21 4.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 36 9.2E-02 33 4.9E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 27 9.0E-02 22 4.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 23 8.9E-02 20 4.5E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 23 8.9E-02 23 5.0E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 25 8.5E-02 5 9.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 21 8.2E-02 33 7.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 21 7.9E-02 15 3.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 21 7.7E-02 9 1.9E-02