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 3.3E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 6.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 2 6.0E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.1E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.2E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 8.0E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.4E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 2 9.5E-03 1 2.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 1.1E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.3E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 2.0E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 2.4E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 1 2.6E-02 1 2.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 1 2.6E-02 1 2.5E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 3.2E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 3.2E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 0 1 3.2E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 1 4.5E-02 1 1.9E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 0 1 5.0E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 5.3E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 0 1 6.2E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 0 1 7.1E-02 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 0 1 9.1E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 1.0E-01 0 0