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: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 5 0.31 4 1.2E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 7 0.29 20 6.6E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 4 0.19 25 8.4E-02
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		6 0 3 0.19 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 3 0.19 0 0
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 0.15 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.15 11 3.7E-02
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.15 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.15 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.15 6 2.3E-02
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.15 0 0
CUI: C1970461
Disease: Externally rotated/abducted legs
Externally rotated/abducted legs 		2 0 2 0.15 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.15 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 3 0.15 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 3 0.15 0 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 13 0.14 26 8.1E-02
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.14 8 3.0E-02
CUI: C0278686
Disease: Ovarian epithelial cancer stage II
Ovarian epithelial cancer stage II 		4 0 2 0.13 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.13 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.13 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 2 0.13 14 5.0E-02
CUI: C4553237
Disease: Stage II Ovarian Cancer AJCC v8
Stage II Ovarian Cancer AJCC v8 		4 0 2 0.13 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 0.12 9 3.5E-02
CUI: C1290386
Disease: Chronic heart disease
Chronic heart disease 		5 0 2 0.12 0 0