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: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 1 4 0.33 1 1.5E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 7 0.30 24 0.22
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 5 0.29 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 1 4 0.29 1 1.5E-02
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 4 0.27 0 0
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 4 0.25 4 2.6E-02
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5 		4 0 3 0.23 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 1 4 0.22 1 1.5E-02
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 5 0.22 0 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 4 0.19 25 8.4E-02
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 4 0.17 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.17 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.17 13 0.13
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.17 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.17 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.17 3 4.3E-02
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.17 0 0
CUI: C3824901
Disease: Osteoporosis in children
Osteoporosis in children 		2 0 2 0.17 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.17 0 0
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis 		10 0 3 0.16 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 5 0.16 0 0
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		3 0 2 0.15 0 0
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		3 0 2 0.15 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.15 8 0.11
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.14 0 0