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: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		5 0 5 1.00 0 0
CUI: C4703646
Disease: Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus 		5 0 5 1.00 0 0
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		5 0 3 0.43 0 0
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2 		2 0 2 0.40 0 0
CUI: C0035238
Disease: Congenital abnormality of respiratory system
Congenital abnormality of respiratory system 		3 0 2 0.33 0 0
CUI: C1388233
Disease: Aneurysm of descending thoracic aorta
Aneurysm of descending thoracic aorta 		15 0 5 0.33 0 0
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		3 0 2 0.33 0 0
CUI: C4022878
Disease: Descending aortic dissection
Descending aortic dissection 		15 0 5 0.33 0 0
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve 		3 0 2 0.33 0 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal 		16 0 5 0.31 0 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		16 0 5 0.31 0 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation 		16 0 5 0.31 0 0
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture 		4 0 2 0.29 0 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm 		4 0 2 0.29 0 0
CUI: C0220996
Disease: Infantile scurvy
Infantile scurvy 		4 0 2 0.29 0 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity 		4 0 2 0.29 0 0
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 0 5 0.25 0 0
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		23 0 5 0.22 0 0
CUI: C0019295
Disease: Inguinal Hernia, Direct
Inguinal Hernia, Direct 		1 0 1 0.20 0 0
CUI: C0302883
Disease: SMITH DISEASE
SMITH DISEASE 		1 0 1 0.20 0 0
CUI: C0345982
Disease: Multiple self-healing epithelioma of Ferguson-Smith
Multiple self-healing epithelioma of Ferguson-Smith 		1 0 1 0.20 0 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		25 0 5 0.20 0 0
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 		1 0 1 0.20 0 0
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		1 0 1 0.20 0 0
CUI: C2697933
Disease: Loeys-Dietz Syndrome Type 1
Loeys-Dietz Syndrome Type 1 		1 0 1 0.20 0 0