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: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 2.5E-02 2 9.1E-02
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		1 1 1 1.3E-02 1 7.1E-02
CUI: C1861980
Disease: PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)
PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder) 		0 1 0 0 1 7.1E-02
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 1 2 2.2E-02 1 7.1E-02
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		14 2 4 4.6E-02 1 6.7E-02
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 5 8 8.4E-02 1 5.6E-02
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		3 5 1 1.3E-02 1 5.6E-02
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		9 7 4 4.9E-02 1 5.0E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 5 6.5E-02 4 4.4E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 27 3.0E-02 3 4.2E-02
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		132 12 4 2.0E-02 1 4.0E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 14 21 0.11 1 3.7E-02
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 2.6E-02 1 3.4E-02
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		90 91 15 9.9E-02 3 2.9E-02
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		12 65 3 3.5E-02 2 2.6E-02
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		18 67 3 3.3E-02 2 2.5E-02
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 4 5.2E-02 1 2.0E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		171 38 8 3.3E-02 1 2.0E-02
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		3 38 1 1.3E-02 1 2.0E-02
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		13 257 2 2.3E-02 5 1.9E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		161 44 5 2.1E-02 1 1.8E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 8 8.1E-02 1 1.7E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 7 2.4E-02 1 1.6E-02
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 51 2 2.6E-02 1 1.6E-02
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		8 93 3 3.7E-02 1 9.4E-03