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: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.0E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.5E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.8E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 8.8E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 1 1.0E-02 1 8.3E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 4 1.2E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 4 1.2E-02 1 1.6E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 1.2E-02 1 9.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 2 1.2E-02 1 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 3 1.2E-02 1 2.7E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 1 1.3E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 1.8E-02 1 1.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 1.8E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.8E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 1.8E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.9E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 2.1E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.1E-02 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 2.4E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 32 1 2.4E-02 1 2.2E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 2.6E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 1 2.7E-02 0 0