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 4 1.2E-02 3 5.1E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 3 8.8E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 4 1.3E-02 4 7.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 3 1.2E-02 3 7.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 2 9.2E-03 2 4.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 5.1E-03 1 3.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 2 1.2E-02 1 4.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.5E-02 1 5.7E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 3 2.3E-02 1 5.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 1 1.0E-02 1 7.8E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 2 2.1E-02 2 1.7E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 1.0E-02 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.1E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 1.3E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 1 1.4E-02 2 1.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 2 2.9E-02 2 2.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 2 2.9E-02 3 3.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 1 1.6E-02 1 1.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.6E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 2 3.5E-02 2 3.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 2 3.8E-02 1 1.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 1 1.9E-02 2 2.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.9E-02 0 0