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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 35 0.12 4 0.11
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 37 0.12 1 3.2E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 39 0.12 4 1.0E-01
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 38 0.12 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 65 0.12 5 5.3E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 18 35 0.12 1 2.4E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 41 0.12 1 2.4E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 29 0.12 1 2.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 49 0.12 1 1.9E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 32 0.12 2 6.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 58 0.11 3 4.2E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 41 0.11 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 41 0.11 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 31 0.11 3 7.0E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 29 0.11 2 4.3E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 43 0.11 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 67 0.11 1 1.1E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 37 0.11 2 3.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 60 0.11 1 1.6E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 40 0.11 4 4.3E-02
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 2 22 0.11 1 3.8E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 30 0.11 3 8.6E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 42 0.10 2 2.0E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 75 0.10 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 46 0.10 1 2.2E-02