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: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		1 0 1 1.00 0 0
CUI: C4017377
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 		1 0 1 1.00 0 0
CUI: C4017378
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 		1 0 1 1.00 0 0
CUI: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		3 0 1 0.33 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification 		3 0 1 0.33 0 0
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		4 0 1 0.25 0 0
CUI: C1849034
Disease: Hypoplastic iliac body
Hypoplastic iliac body 		4 0 1 0.25 0 0
CUI: C1849063
Disease: Short iliac bones
Short iliac bones 		4 0 1 0.25 0 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		4 0 1 0.25 0 0
CUI: C1865039
Disease: Cupped ribs
Cupped ribs 		4 0 1 0.25 0 0
CUI: C3151495
Disease: Long upper lip
Long upper lip 		5 0 1 0.20 0 0
CUI: C4024618
Disease: Large iliac wings
Large iliac wings 		6 0 1 0.17 0 0
CUI: C1849292
Disease: Advanced ossification of carpal bones
Advanced ossification of carpal bones 		7 0 1 0.14 0 0
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		9 0 1 0.11 0 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		10 0 1 1.0E-01 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 1 9.1E-02 0 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 0 1 9.1E-02 0 0
CUI: C1849025
Disease: Oval face
Oval face 		14 0 1 7.1E-02 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 1 5.3E-02 0 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		19 0 1 5.3E-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 5.0E-02 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 1 4.2E-02 0 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		25 0 1 4.0E-02 0 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 0 1 3.8E-02 0 0
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		27 0 1 3.7E-02 0 0