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: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a
5 10 5 0.13 1 4.2E-02
Eosinophilic infiltration of the esophagus
5 0 5 0.13 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
102 3 16 0.13 2 0.12
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
6 0 5 0.12 0 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis
124 0 18 0.12 0 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
154 0 21 0.12 0 0
CUI: C0014068
Disease: Encephalomalacia
Encephalomalacia
8 0 5 0.12 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
133 14 18 0.12 2 7.4E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
129 0 17 0.11 0 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
111 29 15 0.11 4 1.0E-01
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal
11 0 5 0.11 0 0
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
33 0 7 0.11 0 0
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta
34 0 7 0.11 0 0
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection
14 0 5 0.10 0 0
Abnormal circle of Willis morphology
4 0 4 0.10 0 0
CUI: C2713497
Disease: Saccular Aneurysm
Saccular Aneurysm
5 0 4 1.0E-01 0 0
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta
39 0 7 9.9E-02 0 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
152 16 16 9.1E-02 1 3.3E-02
Hereditary Connective Tissue Disorder
9 0 4 9.1E-02 0 0
CUI: C0008031
Disease: Chest Pain
Chest Pain
154 0 16 9.0E-02 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency
10 0 4 8.9E-02 0 0
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME
37 0 6 8.6E-02 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 0 18 8.5E-02 0 0
Fatiguable weakness of proximal limb muscles
14 0 4 8.2E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
94 11 10 8.1E-02 2 8.3E-02