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: C0426824
Disease: Beading of ribs
Beading of ribs
7 0 4 0.57 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
2 0 2 0.50 0 0
Osteogenesis imperfecta, recessive perinatal lethal
2 51 2 0.50 1 2.0E-02
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae
2 0 2 0.50 0 0
Femoral bowing present at birth, straightening with time
2 0 2 0.50 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB
2 0 2 0.50 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis
2 0 2 0.50 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria
2 0 2 0.50 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
3 0 2 0.40 0 0
Osteogenesis imperfecta, dominant perinatal lethal
8 0 3 0.33 0 0
Osteogenesis imperfecta type IV (disorder)
12 65 4 0.33 1 1.5E-02
Abnormality of subcutaneous fat tissue
4 0 2 0.33 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
4 0 2 0.33 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
5 0 2 0.29 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
5 0 2 0.29 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification
10 1 3 0.27 1 1.00
Osteogenesis imperfecta with blue sclerae AND normal teeth
1 0 1 0.25 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
1 0 1 0.25 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
1 0 1 0.25 0 0
Periosteal thickening of long tubular bones
1 0 1 0.25 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome
1 0 1 0.25 0 0
Ehlers-Danlos syndrome, cardiac valvular form
1 0 1 0.25 0 0
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder
1 0 1 0.25 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones
6 1 2 0.25 1 1.00
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
1 0 1 0.25 0 0