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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 16 8.7E-02 0 0
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		42 0 9 8.7E-02 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		18 0 7 8.5E-02 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 9 8.5E-02 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 11 15 8.5E-02 1 5.0E-02
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		34 0 8 8.2E-02 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 8.2E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 15 8.1E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 11 8.0E-02 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		26 0 7 7.8E-02 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 0 9 7.7E-02 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 12 7.6E-02 1 5.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 25 7.6E-02 1 2.1E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 16 14 7.6E-02 1 4.0E-02
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 7.4E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 7 7.4E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 11 7.4E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 12 7.3E-02 1 5.3E-02
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 12 7.3E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 19 7.2E-02 1 2.4E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 19 7.2E-02 1 2.9E-02
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 14 7.1E-02 0 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		19 0 6 7.1E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 14 11 7.1E-02 2 9.1E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 10 7.1E-02 0 0