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: C0036572
Disease: Seizures
Seizures 		237 417 114 0.27 138 0.18
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 91 0.24 103 0.16
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 125 0.24 88 8.8E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 100 0.24 110 0.14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 70 0.19 65 0.11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 103 0.19 15 1.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 68 0.19 81 0.13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 60 0.15 12 1.6E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 49 0.14 41 7.2E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 47 0.14 52 9.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 59 0.14 65 8.9E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 56 0.12 7 8.3E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 38 0.12 42 7.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 35 0.11 20 3.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 33 0.10 27 4.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 32 9.6E-02 33 5.9E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 33 9.6E-02 12 2.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 31 9.3E-02 39 7.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 29 9.0E-02 22 4.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 28 8.7E-02 23 4.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 27 8.6E-02 24 4.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 28 8.5E-02 17 3.1E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 27 8.4E-02 28 5.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 28 8.3E-02 24 4.2E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 26 8.1E-02 21 3.9E-02