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: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 9 0.53 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.35 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 6 0.32 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 7 0.22 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		18 0 6 0.21 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 6 0.21 0 0
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		19 0 6 0.20 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 6 0.20 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 6 0.18 0 0
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		5 0 3 0.16 0 0
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		5 0 3 0.16 0 0
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		5 0 3 0.16 0 0
CUI: C4703646
Disease: Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus 		5 0 3 0.16 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 6 0.15 0 0
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		14 0 4 0.15 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 6 0.15 0 0
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		16 0 4 0.14 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 6 0.13 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 6 0.12 0 0
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2 		2 0 2 0.12 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 6 0.12 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 9 10 0.11 1 5.9E-02
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve 		3 0 2 0.11 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		56 0 7 0.11 0 0
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture 		4 0 2 0.11 0 0