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 6 1.5E-02 3 4.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 6 1.5E-02 6 8.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 5 1.4E-02 8 1.2E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 6 2.0E-02 1 1.5E-04
CUI: C0036572
Disease: Seizures
Seizures 		237 417 3 1.0E-02 2 2.9E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 4 1.5E-02 7 1.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 4 1.6E-02 2 3.0E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 5 2.2E-02 2 3.0E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 5 2.3E-02 2 3.0E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 3 1.6E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 1 5.9E-03 1 1.5E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 3 2.0E-02 1 1.5E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 5 3.5E-02 3 4.6E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 7.1E-03 1 1.5E-04
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 3 2.3E-02 11 1.7E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 4 3.2E-02 1 1.5E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 3 2.4E-02 1 1.5E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 8.2E-03 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 2 1.7E-02 1 1.5E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 8.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 8.9E-03 1 1.6E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 8.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 2 1.8E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 172 1 9.0E-03 1 1.5E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 9.1E-03 0 0