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 		336 579 200 0.42 255 0.27
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 162 0.40 213 0.28
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 88 0.22 75 9.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 103 0.19 15 1.4E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 86 0.19 9 8.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 78 0.16 14 1.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 58 0.14 3 3.7E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 52 0.14 45 6.8E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 56 0.13 12 1.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 52 0.11 12 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 44 0.11 5 6.5E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 39 0.10 3 4.2E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 34 9.1E-02 2 2.8E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 32 8.8E-02 7 1.0E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 32 8.7E-02 6 8.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 34 8.7E-02 8 1.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 31 8.6E-02 3 4.5E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 28 7.5E-02 3 4.1E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 27 7.5E-02 3 4.4E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 25 7.0E-02 5 7.4E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 24 6.4E-02 5 7.3E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 22 6.2E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 21 5.8E-02 1 1.5E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 20 5.7E-02 1 1.5E-03
CUI: C0027092
Disease: Myopia
Myopia 		45 52 20 5.6E-02 1 1.5E-03