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: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		11 6 8 2.8E-02 5 0.12
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 92 0.20 8 0.12
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 21 39 0.10 6 0.11
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 95 0.15 6 9.7E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 31 8.9E-02 5 9.4E-02
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 8 7 2.4E-02 4 9.3E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 50 0.13 4 8.7E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 51 0.12 5 8.5E-02
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 23 7.4E-02 4 8.2E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 39 0.10 4 8.2E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 43 0.13 4 7.8E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 82 0.17 4 7.8E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 32 9.5E-02 4 7.8E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 7 2.3E-02 6 7.6E-02
CUI: C3665983
Disease: Oral aversion
Oral aversion 		7 4 4 1.4E-02 3 7.5E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 74 0.17 4 7.4E-02
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		18 5 4 1.3E-02 3 7.3E-02
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		9 5 3 1.0E-02 3 7.3E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 67 0.17 4 7.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 172 0.25 6 7.0E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 5 1.7E-02 3 7.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 51 0.12 4 6.9E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 28 7.3E-02 3 6.8E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 8 2.7E-02 4 6.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 104 0.13 6 6.7E-02