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: C1865014
Disease: Long philtrum
Long philtrum 		282 16 57 0.14 3 9.7E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 42 0.13 3 4.3E-02
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 6 39 0.13 2 9.1E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 52 0.13 1 3.3E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 39 0.12 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 35 0.12 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 50 0.12 1 1.9E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 0 49 0.12 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 74 0.12 3 3.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 43 0.12 5 1.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 50 0.12 2 3.6E-02
CUI: C1836047
Disease: Long face
Long face 		182 12 39 0.12 1 3.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 81 0.12 2 2.9E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 36 0.12 1 2.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 62 0.11 1 1.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 60 0.11 1 2.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 77 0.11 1 1.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 41 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 89 0.11 1 9.4E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 57 0.11 3 4.7E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 33 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 48 0.11 1 2.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 61 0.11 3 4.7E-03
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 35 0.10 1 2.8E-02
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 0 22 0.10 0 0