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: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 0 2 0.11 0 0
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		6 0 2 1.0E-01 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 2 1.0E-01 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 1.0E-01 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 2 9.5E-02 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 2 9.5E-02 0 0
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		19 0 3 9.4E-02 0 0
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 0 2 9.1E-02 0 0
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		8 0 2 9.1E-02 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 2 8.7E-02 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 11 8.6E-02 0 0
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 5 8.3E-02 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 2 8.3E-02 0 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		10 0 2 8.3E-02 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 8 7.9E-02 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 3 7.9E-02 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 2 7.7E-02 0 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		12 0 2 7.7E-02 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 6 7.5E-02 0 0
CUI: C0008767
Disease: Cicatrization
Cicatrization 		13 0 2 7.4E-02 0 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 0 2 7.4E-02 0 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 0 4 7.4E-02 0 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		13 0 2 7.4E-02 0 0
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		13 0 2 7.4E-02 0 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 0 7 7.1E-02 0 0