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 		335 611 162 0.40 213 0.28
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 112 0.24 87 0.10
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 51 0.13 3 4.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 42 0.12 26 4.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 56 0.12 7 8.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 33 0.10 1 1.8E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 27 9.9E-02 4 9.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 42 9.7E-02 1 1.3E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 28 9.7E-02 20 4.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 35 8.9E-02 7 1.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 25 8.3E-02 3 6.6E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 29 7.9E-02 2 3.4E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 26 7.7E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 21 7.5E-02 1 2.3E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 21 7.5E-02 2 4.3E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 21 6.9E-02 6 1.3E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 17 6.7E-02 3 7.6E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 18 6.5E-02 1 2.4E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 18 6.4E-02 3 6.9E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 17 6.4E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 18 6.1E-02 1 2.3E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 16 6.0E-02 2 4.8E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 16 5.8E-02 1 2.4E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 15 5.8E-02 1 2.6E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 14 5.6E-02 0 0