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: C1851801
Disease: EDS VIIB
EDS VIIB 		2 7 2 0.11 3 4.2E-02
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.11 0 0
CUI: C1970458
Disease: Osteogenesis imperfecta, type VIII
Osteogenesis imperfecta, type VIII 		2 0 2 0.11 0 0
CUI: C1970461
Disease: Externally rotated/abducted legs
Externally rotated/abducted legs 		2 0 2 0.11 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.11 0 0
CUI: C0587044
Disease: Left ventricular thrombus
Left ventricular thrombus 		3 0 2 0.11 0 0
CUI: C1328551
Disease: Transfusion associated graft versus host disease
Transfusion associated graft versus host disease 		3 0 2 0.11 0 0
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		3 0 2 0.11 0 0
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		3 0 2 0.11 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 16 2 0.11 8 0.11
CUI: C0278686
Disease: Ovarian epithelial cancer stage II
Ovarian epithelial cancer stage II 		4 0 2 1.0E-01 0 0
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5 		4 0 2 1.0E-01 0 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 2 1.0E-01 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 37 2 1.0E-01 1 9.7E-03
CUI: C4553237
Disease: Stage II Ovarian Cancer AJCC v8
Stage II Ovarian Cancer AJCC v8 		4 0 2 1.0E-01 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 9.5E-02 8 0.12
CUI: C1290386
Disease: Chronic heart disease
Chronic heart disease 		5 0 2 9.5E-02 0 0
CUI: C1998045
Disease: Subclinical hyperthyroidism
Subclinical hyperthyroidism 		5 0 2 9.5E-02 0 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 81 2 9.5E-02 7 5.0E-02
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 9.1E-02 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 4 8.9E-02 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 9 8.8E-02 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 2 8.7E-02 0 0
CUI: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		7 0 2 8.7E-02 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 4 8.2E-02 0 0