Source: ALL
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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 57 9.4E-02 3 2.0E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 64 9.4E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 32 9.3E-02 2 1.8E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 46 9.1E-02 2 1.7E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 102 9.0E-02 13 1.9E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 44 8.9E-02 2 1.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 47 8.9E-02 1 7.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 114 8.9E-02 19 5.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 57 8.9E-02 2 1.5E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 42 8.7E-02 3 6.6E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 55 8.6E-02 5 3.8E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 36 8.6E-02 1 8.0E-03
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 36 8.5E-02 2 1.6E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 67 8.5E-02 2 1.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 189 8.4E-02 2 7.6E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 77 8.4E-02 5 2.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 46 8.4E-02 7 4.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 49 8.3E-02 1 5.4E-03
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 62 8.3E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 31 8.3E-02 2 1.7E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 98 8.3E-02 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 36 8.1E-02 3 2.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 64 8.0E-02 1 6.2E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 41 8.0E-02 6 4.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 50 8.0E-02 3 2.2E-02