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: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 7 0.30 24 0.22
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 6 0.30 6 3.9E-02
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 7 0.29 20 6.6E-02
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		6 0 5 0.26 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 5 0.25 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 8 0.23 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 1 4 0.22 1 1.5E-02
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 5 0.22 0 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 18 0.20 7 4.6E-02
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 5 0.18 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 5 0.17 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 1 4 0.17 1 1.5E-02
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 1 3 0.14 1 1.5E-02
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		35 7 6 0.13 2 2.8E-02
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis 		10 0 3 0.12 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 9 0.11 1 1.3E-02
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.11 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.11 14 0.13
CUI: C0948775
Disease: High weight
High weight 		12 0 3 0.11 0 0
CUI: C0948825
Disease: Systremma
Systremma 		2 0 2 0.11 0 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 0 6 0.11 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.11 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.11 0 0
CUI: C1836602
Disease: Bruck syndrome 2
Bruck syndrome 2 		2 0 2 0.11 0 0
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1 		2 0 2 0.11 0 0