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: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 13 9.0E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 32 9.0E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 44 9.0E-02 1 3.2E-02
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 13 9.0E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 22 8.9E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 30 8.8E-02 1 4.0E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 26 8.8E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 42 8.7E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 31 8.7E-02 1 2.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 30 8.6E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 0 10 8.6E-02 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 18 8.5E-02 0 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		52 0 12 8.3E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		26 0 10 8.3E-02 0 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		163 0 20 8.1E-02 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 10 8.1E-02 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 11 8.0E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 22 7.9E-02 0 0
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		31 0 10 7.9E-02 0 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 15 7.9E-02 0 0
CUI: C0751466
Disease: Phonophobia
Phonophobia 		18 0 9 7.9E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 24 7.9E-02 0 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		87 0 14 7.9E-02 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 16 7.8E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 50 7.8E-02 0 0