Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Osteogenesis imperfecta type III (disorder)
18 67 18 0.20 7 4.6E-02
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
13 257 13 0.14 26 8.1E-02
Osteogenesis imperfecta type IV (disorder)
12 65 12 0.13 7 4.7E-02
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
93 0 20 0.12 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
70 13 16 0.11 1 9.7E-03
Compression fracture of vertebral column
25 0 11 0.11 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
123 0 20 0.10 0 0
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures
108 0 18 1.0E-01 0 0
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
77 14 15 9.9E-02 3 2.9E-02
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
35 7 10 8.7E-02 1 1.0E-02
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis
10 0 8 8.7E-02 0 0
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related
89 0 13 7.8E-02 0 0
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
317 10 28 7.4E-02 1 1.0E-02
Increased susceptibility to fractures
42 5 9 7.3E-02 1 1.1E-02
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies
16 0 7 7.1E-02 0 0
CUI: C0376154
Disease: Skin callus
Skin callus
154 0 16 7.0E-02 0 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
82 0 11 6.8E-02 0 0
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
130 0 14 6.8E-02 0 0
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia
53 0 9 6.7E-02 0 0
CUI: C0002382
Disease: Alveolar Bone Loss
Alveolar Bone Loss
101 0 12 6.7E-02 0 0
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases
38 0 8 6.7E-02 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones
6 0 6 6.7E-02 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs
7 0 6 6.6E-02 0 0
Osteogenesis imperfecta, dominant perinatal lethal
8 93 6 6.5E-02 7 4.0E-02
CUI: C0020492
Disease: Hyperostosis
Hyperostosis
50 0 8 6.1E-02 0 0