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: C4721411
Disease: Osteolysis
Osteolysis 		62 0 12 0.14 0 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		67 0 12 0.13 0 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		67 0 12 0.13 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 9 0.11 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 6 0.11 0 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		10 0 4 9.8E-02 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 14 9.7E-02 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		67 0 9 9.7E-02 0 0
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		3 0 3 8.6E-02 0 0
CUI: C4023052
Disease: Ubiquitin-positive cerebral inclusion bodies
Ubiquitin-positive cerebral inclusion bodies 		3 0 3 8.6E-02 0 0
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		3 0 3 8.6E-02 0 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		42 0 6 8.5E-02 0 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		82 0 9 8.3E-02 0 0
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		4 0 3 8.3E-02 0 0
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		4 0 3 8.3E-02 0 0
CUI: C0152031
Disease: Joint swelling
Joint swelling 		33 0 5 7.9E-02 0 0
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		6 1 3 7.9E-02 1 0.50
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		7 0 3 7.7E-02 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 9 7.6E-02 0 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		8 0 3 7.5E-02 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		8 0 3 7.5E-02 0 0
CUI: C0006663
Disease: Calcinosis
Calcinosis 		52 0 6 7.4E-02 0 0
CUI: C0151825
Disease: Bone pain
Bone pain 		139 0 12 7.4E-02 0 0
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		24 0 4 7.3E-02 0 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		25 0 4 7.1E-02 0 0