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 4 0.19 25 8.4E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 7 0.30 24 0.22
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.17 13 0.13
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		171 38 3 1.7E-02 11 0.12
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 0.13 8 0.12
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.15 8 0.11
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: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 4 0.25 4 2.6E-02
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.17 3 4.3E-02
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		1 3 1 8.3E-02 3 4.6E-02
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: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		35 7 4 9.3E-02 2 2.9E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 14 3 3.5E-02 2 2.6E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 2 8.8E-03 2 1.8E-02
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		45 5 1 1.8E-02 1 1.4E-02
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		35 2 3 6.8E-02 1 1.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 3 5.0E-03 1 7.1E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 8 9.4E-03 1 8.0E-03
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 3 1.5E-02 1 8.8E-03
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		6 1 1 5.9E-02 1 1.5E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 2 1.0E-02 1 7.8E-03
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 1 2 1.0E-01 1 1.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 1 2.5E-03 1 8.8E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 2 1.6E-03 1 5.7E-03