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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 85 8.2E-02 29 3.6E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 20 8.1E-02 7 2.7E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 36 8.1E-02 11 3.6E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 15 8.1E-02 20 7.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 83 8.0E-02 27 7.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 33 8.0E-02 8 2.9E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 19 8.0E-02 5 2.0E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 30 7.9E-02 2 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 38 7.9E-02 5 1.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 40 7.8E-02 5 1.7E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 41 7.8E-02 7 2.6E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 18 7.7E-02 8 3.1E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 42 7.7E-02 6 2.2E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 32 7.7E-02 5 1.9E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 13 7.7E-02 17 6.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 41 7.6E-02 4 1.5E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 14 18 7.6E-02 6 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 140 7.6E-02 103 0.15
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 90 7.5E-02 58 0.12
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 36 7.5E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 22 7.5E-02 8 3.0E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 23 7.5E-02 18 6.4E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 24 7.4E-02 6 2.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 32 7.4E-02 3 1.1E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 23 7.3E-02 8 3.1E-02