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: 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: 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: C1970497
Disease: Crumpled long bones
Crumpled long bones 		1 0 1 0.50 0 0
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME 		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: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		2 0 1 0.33 0 0
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		2 0 1 0.33 0 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		2 234 1 0.33 8 3.4E-02
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 1 0.33 8 0.15
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		2 43 1 0.33 8 0.18
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		2 36 1 0.33 8 0.22
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 1 0.33 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		2 0 1 0.33 0 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		3 52 1 0.25 1 1.7E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		3 13 1 0.25 8 0.57
CUI: C0241181
Disease: Fragile skin
Fragile skin 		3 0 1 0.25 0 0
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		3 0 1 0.25 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 1 0.25 8 0.47