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: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 2 0.12 39 0.13
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 13 0.14 26 8.1E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 4 0.19 25 8.4E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 7 0.29 20 6.6E-02
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 2 0.13 14 5.0E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		171 38 4 2.2E-02 11 3.9E-02
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.15 11 3.7E-02
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 0.12 9 3.5E-02
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.14 8 3.0E-02
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.15 6 2.3E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 14 2 2.3E-02 5 1.9E-02
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 5 0.31 4 1.2E-02
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		1 3 1 7.7E-02 3 1.2E-02
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		24 25 1 2.8E-02 2 7.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 1 3.8E-03 1 1.7E-03
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		35 7 2 4.3E-02 1 3.8E-03
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 1 4.3E-03 1 3.3E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 9 1.1E-02 1 3.2E-03
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 5 2 5.4E-02 1 3.8E-03
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 14 2 1.4E-02 1 3.7E-03
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 13 3 3.7E-02 1 3.7E-03
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		1 1 1 7.7E-02 1 3.9E-03
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 2.4E-02 1 3.3E-03
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		14 2 1 3.8E-02 1 3.9E-03
CUI: C1861980
Disease: PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder) 		0 1 0 0 1 3.9E-03