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: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 2 0.14 3 3.0E-02
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 0.13 8 0.12
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 12 0.13 7 4.7E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 2 0.13 6 4.3E-02
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		6 0 2 0.12 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 0.12 0 0
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		7 0 2 0.12 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 2 0.12 0 0
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		8 0 2 0.11 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 2 0.11 0 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 0 5 0.10 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 1 2 1.0E-01 1 1.5E-02
CUI: C1844592
Disease: Soft skin
Soft skin 		22 0 3 9.7E-02 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 7 9.3E-02 1 1.3E-02
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		35 7 4 9.3E-02 2 2.9E-02
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 1 2 9.1E-02 1 1.5E-02
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		49 0 5 8.9E-02 0 0
CUI: C0008767
Disease: Cicatrization
Cicatrization 		13 0 2 8.7E-02 0 0
CUI: C0265905
Disease: Agenesis of pulmonary artery
Agenesis of pulmonary artery 		1 0 1 8.3E-02 0 0
CUI: C0268356
Disease: Osteogenesis imperfecta with blue sclerae AND normal teeth
Osteogenesis imperfecta with blue sclerae AND normal teeth 		1 0 1 8.3E-02 0 0
CUI: C0432273
Disease: Worth disease
Worth disease 		1 3 1 8.3E-02 1 1.5E-02
CUI: C0740476
Disease: Biliary carcinoma
Biliary carcinoma 		1 0 1 8.3E-02 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma 		1 0 1 8.3E-02 0 0
CUI: C1290783
Disease: Peripheral ossifying fibroma
Peripheral ossifying fibroma 		1 0 1 8.3E-02 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		1 1 1 8.3E-02 1 1.5E-02