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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.4E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 1.0E-01 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.3E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 6.0E-03 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 5.3E-02 0 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		6 0 1 0.14 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 3.2E-02 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		3 0 1 0.25 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.2E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 1.1E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		19 0 1 5.0E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 2 6.0E-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: C0497406
Disease: Overweight
Overweight 		4 0 1 0.20 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1 0 1 0.50 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 2.4E-02 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		6 0 1 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 3.2E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 0 1 7.1E-02 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		3 0 1 0.25 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		4 0 1 0.20 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 0 1 9.1E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		7 0 1 0.12 0 0