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: C0024433
Disease: Macrostomia
Macrostomia 		148 0 30 0.14 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 16 0.10 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 23 1.0E-01 2 5.3E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 18 9.9E-02 3 0.12
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 18 9.9E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 16 9.6E-02 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 10 9.6E-02 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 20 9.1E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 23 9.1E-02 4 0.11
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 18 9.0E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 11 8.9E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 12 8.7E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 23 8.6E-02 3 6.7E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 30 8.6E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 41 8.5E-02 2 3.8E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 15 8.5E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 29 8.3E-02 1 1.9E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 18 8.0E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 14 7.9E-02 1 4.0E-02
CUI: C0423867
Disease: Fine hair
Fine hair 		69 0 12 7.9E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 23 7.8E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 16 7.7E-02 1 2.9E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 20 7.6E-02 2 6.5E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 14 7.5E-02 2 6.1E-02
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 9 7.4E-02 0 0