Source: ALL
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: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 0 6 0.11 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		10 0 5 0.11 0 0
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 0 5 0.10 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 6 9.8E-02 0 0
CUI: C1968851
Disease: Pigmented micronodular adrenocortical disease
Pigmented micronodular adrenocortical disease 		4 0 4 9.5E-02 0 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		123 0 14 9.3E-02 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 9 8.7E-02 2 0.12
CUI: C4304832
Disease: Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease 		22 0 5 8.5E-02 0 0
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		35 0 6 8.5E-02 0 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		11 0 4 8.2E-02 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 4 7.4E-02 0 0
CUI: C1850573
Disease: Slender build
Slender build 		31 2 5 7.4E-02 2 0.40
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 9 7.3E-02 1 1.1E-02
CUI: C0423757
Disease: Thin skin
Thin skin 		77 0 8 7.2E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 5 7 7.1E-02 1 0.11
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		3 0 3 7.1E-02 0 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 0 6 7.0E-02 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 3 7.0E-02 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature 		4 0 3 7.0E-02 0 0
CUI: C4025760
Disease: Primary hypercortisolism
Primary hypercortisolism 		4 0 3 7.0E-02 0 0
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		66 0 7 6.9E-02 0 0
CUI: C4023065
Disease: Low serum calcitriol
Low serum calcitriol 		5 0 3 6.8E-02 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 0 11 6.7E-02 0 0
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		6 0 3 6.7E-02 0 0
CUI: C1844592
Disease: Soft skin
Soft skin 		22 0 4 6.7E-02 0 0