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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 57 1.0E-01 5 1.1E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 57 9.8E-02 4 9.1E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 61 9.8E-02 18 4.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 103 9.7E-02 18 3.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 35 9.7E-02 2 4.7E-03
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 27 9.6E-02 2 4.8E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 43 9.6E-02 5 1.2E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 19 49 9.5E-02 1 2.3E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 43 9.4E-02 6 1.4E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 55 9.4E-02 7 1.6E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 27 9.4E-02 4 9.5E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 54 9.3E-02 1 2.2E-03
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 30 9.1E-02 3 7.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 170 9.1E-02 110 0.13
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 29 9.0E-02 4 9.5E-03
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 43 9.0E-02 13 2.8E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 51 8.9E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 35 8.9E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 45 8.9E-02 4 8.6E-03
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 24 8.9E-02 5 1.2E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 34 8.8E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 48 8.8E-02 5 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 64 8.7E-02 9 1.9E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 41 8.6E-02 1 2.3E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 49 8.6E-02 7 1.6E-02