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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 54 0.15 3 6.1E-02
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 23 0.14 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 0 22 0.14 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 54 0.14 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 13 24 0.13 2 8.3E-02
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 26 0.13 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 48 0.13 3 0.12
CUI: C0019825
Disease: Hoarseness
Hoarseness 		84 0 25 0.13 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 37 0.13 1 4.2E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 0 27 0.13 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 39 0.12 1 3.2E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 35 0.12 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 40 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 34 0.12 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 43 0.12 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 78 0.12 3 3.4E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 38 0.12 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 36 0.12 1 3.4E-02
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 18 0.12 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 54 0.11 3 5.1E-02
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 21 0.11 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 36 0.11 0 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 31 0.11 3 0.10
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 30 0.11 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 44 0.11 3 5.7E-02