Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Osteogenesis imperfecta, recessive perinatal lethal
2 51 2 1.00 11 4.0E-02
Osteogenesis imperfecta type III (disorder)
2 43 2 1.00 13 4.9E-02
Osteogenesis imperfecta type IV (disorder)
2 36 2 1.00 16 6.3E-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: C1851801
Disease: EDS VIIB
EDS VIIB
2 7 2 1.00 6 2.6E-02
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
3 52 2 0.67 14 5.1E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
3 13 2 0.67 11 4.7E-02
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
3 16 2 0.67 8 3.3E-02
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
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 1.3E-02
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
1 0 1 0.50 0 0
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
4 36 2 0.50 14 5.5E-02
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia
2 0 1 0.33 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
2 9 1 0.33 8 3.4E-02
Bilateral congenital dislocation of hip
2 0 1 0.33 0 0