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: C1832117
Disease: Short humerus
Short humerus 		24 0 5 0.11 0 0
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		4 0 3 0.11 0 0
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		4 0 3 0.11 0 0
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 0 4 0.10 0 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		6 0 3 1.0E-01 0 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		6 0 3 1.0E-01 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 4 9.5E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 9 9.4E-02 0 0
CUI: C0575497
Disease: Short sternum
Short sternum 		9 0 3 9.1E-02 0 0
CUI: C1185616
Disease: Hair whorls
Hair whorls 		9 0 3 9.1E-02 0 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		9 0 3 9.1E-02 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 3 8.8E-02 0 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		10 0 3 8.8E-02 0 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 3 8.6E-02 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 4 8.5E-02 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 10 8.3E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 7 8.1E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 0 6 7.8E-02 0 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		15 0 3 7.7E-02 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 3 7.5E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 8 7.5E-02 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		31 0 4 7.4E-02 0 0
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		2 0 2 7.4E-02 0 0
CUI: C4021335
Disease: Short distal phalanx of hallux
Short distal phalanx of hallux 		2 0 2 7.4E-02 0 0
CUI: C4025086
Disease: Irregular metacarpals
Irregular metacarpals 		2 0 2 7.4E-02 0 0