Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Loeys-Dietz Aortic Aneurysm Syndrome
5 0 5 1.00 0 0
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
7 31 5 0.71 3 7.9E-02
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
5 0 3 0.43 0 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
5 0 3 0.43 0 0
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel
5 0 3 0.43 0 0
Congenital abnormality of respiratory system
3 0 2 0.33 0 0
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
17 0 5 0.29 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
7 0 2 0.20 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
1 0 1 0.20 0 0
CUI: C0019295
Disease: Inguinal Hernia, Direct
Inguinal Hernia, Direct
1 0 1 0.20 0 0
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect
1 0 1 0.20 0 0
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
7 0 2 0.20 0 0
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal
7 0 2 0.20 0 0
Multiple self-healing epithelioma of Ferguson-Smith
1 0 1 0.20 0 0
Multiple self-healing squamous epithelioma
1 0 1 0.20 0 0
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
1 0 1 0.20 0 0
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)
1 0 1 0.20 0 0
Aortic aneurysm, familial thoracic 3
1 26 1 0.20 1 2.9E-02
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
1 0 1 0.20 0 0
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
1 0 1 0.20 0 0
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4
1 0 1 0.20 0 0
CUI: C3810012
Disease: RIENHOFF SYNDROME
RIENHOFF SYNDROME
1 0 1 0.20 0 0
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1
1 0 1 0.20 0 0
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
1 6 1 0.20 1 6.7E-02
CUI: C0010520
Disease: Cyanosis
Cyanosis
4 0 1 0.12 0 0