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: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		62 9 13 6.0E-02 3 2.3E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 27 6.0E-02 9 4.8E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 19 6.0E-02 10 6.0E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 33 5.9E-02 8 4.7E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		67 0 13 5.9E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 21 5.9E-02 3 2.1E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 11 5.9E-02 11 7.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 48 5.8E-02 15 7.7E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 25 5.7E-02 2 1.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 16 5.7E-02 12 7.5E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 32 5.7E-02 5 3.4E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 6 15 5.7E-02 1 7.9E-03
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 13 5.6E-02 7 5.1E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 17 5.6E-02 7 5.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 35 5.6E-02 7 3.8E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 23 5.6E-02 7 3.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 68 5.6E-02 29 7.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 31 5.5E-02 11 7.3E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 17 5.5E-02 5 3.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 29 5.5E-02 5 3.0E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 18 5.5E-02 8 5.4E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 14 5.4E-02 3 2.3E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 36 5.4E-02 5 2.5E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 23 5.4E-02 4 2.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 24 5.4E-02 2 1.4E-02