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: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.33 8 0.44
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		171 38 2 1.1E-02 8 0.20
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 0.40 8 0.15
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 2 0.13 8 0.12
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 2 9.5E-02 8 0.12
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		1 1 1 0.20 1 1.0E-01
CUI: C1861980
Disease: PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder) 		0 1 0 0 1 1.0E-01
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 14 2 2.5E-02 2 9.1E-02
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		14 2 1 5.6E-02 1 9.1E-02
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 5 2 6.9E-02 1 7.1E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 14 2 1.5E-02 1 4.3E-02
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 2 0.12 9 3.5E-02
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 2 0.29 1 2.2E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 2.9E-02 1 1.8E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 3 3.5E-03 1 1.4E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 2 0.25 1 1.1E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 2 2.2E-02 1 1.0E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.9E-03 0 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		188 0 2 1.0E-02 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 2 1.8E-02 0 0
CUI: C0000846
Disease: Agenesis
Agenesis 		161 0 1 6.1E-03 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 1 2.3E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 2 8.9E-04 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 1 8.4E-04 0 0
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		89 0 2 2.2E-02 0 0