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: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 13 0.14 26 8.1E-02
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 6 6.5E-02 7 4.0E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 18 0.20 7 4.6E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 12 0.13 7 4.7E-02
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 2.2E-02 5 3.6E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 3 3.3E-02 5 3.0E-02
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		24 25 1 8.8E-03 4 3.6E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 14 15 9.9E-02 3 2.9E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		171 38 13 5.2E-02 3 2.4E-02
CUI: C0029118
Disease: Opportunistic Infections
Opportunistic Infections 		90 7 6 3.4E-02 2 2.1E-02
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 2.2E-02 2 2.1E-02
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5 		4 3 4 4.4E-02 2 2.2E-02
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		1 3 1 1.1E-02 2 2.2E-02
CUI: C0003076
Disease: Aniridia
Aniridia 		0 29 0 0 1 8.4E-03
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		317 10 28 7.4E-02 1 1.0E-02
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		35 7 10 8.7E-02 1 1.0E-02
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 2.2E-02 1 1.0E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 51 5.8E-02 1 6.6E-03
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 45 13 1.9E-02 1 7.4E-03
CUI: C0239399
Disease: Short extremities
Short extremities 		38 10 2 1.6E-02 1 1.0E-02
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0 87 0 0 1 5.6E-03
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 16 0.11 1 9.7E-03
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		73 7 2 1.2E-02 1 1.0E-02
CUI: C1299624
Disease: Postural Orthostatic Tachycardia Syndrome
Postural Orthostatic Tachycardia Syndrome 		25 1 1 8.8E-03 1 1.1E-02
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 5 9 7.3E-02 1 1.1E-02