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: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 17 0.14 0 0
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		34 17 11 0.13 7 1.5E-02
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		188 24 28 0.13 5 1.1E-02
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		154 0 23 0.12 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 20 0.12 0 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 29 18 0.12 5 1.1E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 0 14 0.11 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 7 0.11 0 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		88 0 15 0.11 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 9 0.11 7 1.5E-02
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		152 16 21 0.11 3 6.6E-03
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 28 0.11 0 0
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		130 1012 18 0.11 341 0.31
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		37 23 9 0.10 1 2.2E-03
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 15 0.10 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 22 0.10 0 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		124 0 16 9.6E-02 0 0
CUI: C1844592
Disease: Soft skin
Soft skin 		22 0 7 9.5E-02 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 4 6 9.1E-02 2 4.5E-03
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 11 9 9.0E-02 2 4.4E-03
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		14 1 6 9.0E-02 1 2.3E-03
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		39 0 8 8.9E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		94 11 12 8.5E-02 1 2.2E-03
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		5 0 5 8.5E-02 0 0
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		5 10 5 8.5E-02 4 8.9E-03