Source: CLINVAR ×
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: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		2 0 2 1.00 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 1.00 11 4.0E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		2 43 2 1.00 13 4.9E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		2 36 2 1.00 16 6.3E-02
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 1.00 6 2.6E-02
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
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.67 8 3.3E-02
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		1 0 1 0.50 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		1 0 1 0.50 0 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		4 0 2 0.50 0 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		1 0 1 0.50 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		1 0 1 0.50 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		1 0 1 0.50 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome 		1 0 1 0.50 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		1 0 1 0.50 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		1 0 1 0.50 0 0
CUI: C4015948
Disease: OSTEOGENESIS IMPERFECTA, TYPE III/IV
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
CUI: C4015950
Disease: OSTEOGENESIS IMPERFECTA, TYPE I, MILD
OSTEOGENESIS IMPERFECTA, TYPE I, MILD 		1 0 1 0.50 0 0
CUI: C4015951
Disease: BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 		1 0 1 0.50 0 0
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		1 3 1 0.50 3 1.3E-02
CUI: C4310978
Disease: EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME 		1 0 1 0.50 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 36 2 0.50 14 5.5E-02
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		2 0 1 0.33 0 0