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: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 47 0.14 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 41 0.13 1 2.6E-02
CUI: C1836047
Disease: Long face
Long face 		182 12 39 0.12 1 3.3E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 39 0.12 4 1.0E-01
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 53 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 105 0.11 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 31 0.11 3 0.10
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 75 0.11 1 1.1E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 32 0.11 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 59 0.11 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 39 0.11 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 35 0.10 1 2.8E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 29 0.10 1 3.6E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 51 0.10 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 24 0.10 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 57 0.10 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 34 0.10 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 39 9.6E-02 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 28 9.5E-02 1 2.1E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 49 9.4E-02 1 1.5E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 4 27 9.2E-02 1 4.5E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 39 9.2E-02 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 6 28 9.2E-02 1 4.2E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 39 9.1E-02 2 3.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 29 9.0E-02 0 0