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: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 20 0.13 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 39 0.12 1 3.0E-02
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 21 0.12 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 29 0.12 1 2.9E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 27 0.11 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 20 0.11 1 3.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 30 0.10 2 2.5E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 21 1.0E-01 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 36 9.9E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 9.6E-02 2 4.8E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 23 9.4E-02 1 1.6E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 19 9.4E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 6 11 9.3E-02 2 0.13
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 24 9.3E-02 1 3.3E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 24 9.1E-02 1 2.8E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 27 9.1E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 18 9.0E-02 2 9.1E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 20 8.9E-02 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 10 17 8.9E-02 1 5.0E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 23 8.8E-02 2 7.4E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 15 8.7E-02 2 7.1E-02
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 15 8.4E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 17 8.2E-02 3 0.10
CUI: C1836047
Disease: Long face
Long face 		182 12 21 8.2E-02 1 4.5E-02
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 15 8.2E-02 0 0