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 0 3 0.33 0 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 5 0.31 4 1.2E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 6 0.30 6 3.9E-02
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 4 0.29 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 5 0.28 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 3 0.27 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 3 0.27 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.25 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.25 21 0.17
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 4 0.25 4 2.6E-02
CUI: C0426824
Disease: Beading of ribs
Beading of ribs 		7 0 3 0.25 0 0
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		2 0 2 0.25 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.25 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.25 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 2 0.25 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.25 0 0
CUI: C1970458
Disease: Osteogenesis imperfecta, type VIII
Osteogenesis imperfecta, type VIII 		2 0 2 0.25 0 0
CUI: C1970461
Disease: Externally rotated/abducted legs
Externally rotated/abducted legs 		2 0 2 0.25 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.25 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		3 0 2 0.22 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.22 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 3 0.20 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.20 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 2 0.20 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 0 2 0.18 0 0