Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
2 0 2 1.00 0 0
Osteogenesis imperfecta, recessive perinatal lethal
2 51 2 1.00 3 5.5E-02
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae
2 0 2 1.00 0 0
Femoral bowing present at birth, straightening with time
2 0 2 1.00 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis
2 0 2 1.00 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria
2 0 2 1.00 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
3 0 2 0.67 0 0
Osteogenesis imperfecta with blue sclerae AND normal teeth
1 0 1 0.50 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
1 0 1 0.50 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
1 0 1 0.50 0 0
Periosteal thickening of long tubular bones
1 0 1 0.50 0 0
Bowing of limbs due to multiple fractures
4 0 2 0.50 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome
1 0 1 0.50 0 0
Ehlers-Danlos syndrome, cardiac valvular form
1 0 1 0.50 0 0
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder
1 0 1 0.50 0 0
OSTEOGENESIS IMPERFECTA, TYPE III/IV
1 0 1 0.50 0 0
CUI: C4015949
Disease: OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOGENESIS IMPERFECTA, TYPE IIC
1 0 1 0.50 0 0
OSTEOGENESIS IMPERFECTA, TYPE I, MILD
1 0 1 0.50 0 0
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
1 0 1 0.50 0 0
Abnormality of subcutaneous fat tissue
4 0 2 0.50 0 0
Ehlers-Danlos syndrome cardiac valvular type
1 3 1 0.50 3 0.43
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
1 0 1 0.50 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
4 0 2 0.50 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
5 0 2 0.40 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
5 81 2 0.40 5 6.0E-02