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 0 5 0.29 0 0
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		5 0 3 0.25 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 3 0.23 0 0
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 0 5 0.22 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 3 0.21 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.20 0 0
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 0 3 0.20 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 0 2 0.20 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.20 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.20 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 2 0.20 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.20 0 0
CUI: C2698016
Disease: Marfan Syndrome Type II
Marfan Syndrome Type II 		2 0 2 0.20 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.20 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 3 0.19 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 4 0.18 0 0
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		3 0 2 0.18 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.18 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		10 0 3 0.18 0 0
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal 		11 0 3 0.17 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.17 0 0
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5 		4 0 2 0.17 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 0.17 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 2 0.17 0 0
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		11 0 3 0.17 0 0