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: C0239399
Disease: Short extremities
Short extremities 		38 0 8 9.3E-02 0 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		16 0 6 9.1E-02 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 20 9.0E-02 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 8 8.9E-02 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		30 2 7 8.9E-02 1 0.25
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 7 8.9E-02 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 7 8.9E-02 0 0
CUI: C1862142
Disease: Short 2nd finger
Short 2nd finger 		7 0 5 8.6E-02 0 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		20 0 6 8.6E-02 0 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		20 0 6 8.6E-02 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 6 8.3E-02 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 7 8.3E-02 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 5 8.3E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 14 8.3E-02 0 0
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		62 0 9 8.3E-02 0 0
CUI: C1865992
Disease: Short hallux
Short hallux 		23 0 6 8.2E-02 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 24 6 8.2E-02 1 3.8E-02
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 7 8.1E-02 0 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		64 0 9 8.1E-02 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 9 8.1E-02 0 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 0 14 8.0E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 18 15 7.9E-02 1 5.0E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 18 7.9E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 14 16 7.9E-02 1 6.2E-02
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		27 0 6 7.8E-02 0 0