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 0.40 0 0
Osteogenesis imperfecta, recessive perinatal lethal
2 51 2 0.40 8 0.15
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae
2 0 2 0.40 0 0
Femoral bowing present at birth, straightening with time
2 0 2 0.40 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB
2 0 2 0.40 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis
2 0 2 0.40 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria
2 0 2 0.40 0 0
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
3 16 2 0.33 8 0.44
Bowing of limbs due to multiple fractures
4 0 2 0.29 0 0
Abnormality of subcutaneous fat tissue
4 0 2 0.29 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
4 37 2 0.29 1 2.2E-02
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
5 81 2 0.25 1 1.1E-02
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones
6 0 2 0.22 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones
6 0 2 0.22 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
7 0 2 0.20 0 0
Osteogenesis imperfecta with blue sclerae AND normal teeth
1 0 1 0.20 0 0
CUI: C0426824
Disease: Beading of ribs
Beading of ribs
7 0 2 0.20 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
1 0 1 0.20 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
1 1 1 0.20 1 1.0E-01
Periosteal thickening of long tubular bones
1 0 1 0.20 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome
1 0 1 0.20 0 0
Ehlers-Danlos syndrome, cardiac valvular form
1 0 1 0.20 0 0
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder
1 0 1 0.20 0 0
Alopecia-Mental Retardation Syndrome 1
1 0 1 0.20 0 0
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME
1 0 1 0.20 0 0