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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		111 7 52 0.43 3 0.12
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 23 0.27 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 9 0.13 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 10 0.12 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 6 9.0E-02 0 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		25 0 7 8.9E-02 0 0
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		51 45 9 8.7E-02 2 3.1E-02
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		43 0 8 8.3E-02 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 8 8.2E-02 0 0
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		32 0 7 8.1E-02 0 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		34 0 7 8.0E-02 0 0
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		11 0 5 7.5E-02 0 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 0 6 7.3E-02 0 0
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		33 4 6 6.8E-02 1 4.2E-02
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		18 0 5 6.8E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 7 6.7E-02 0 0
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 0 5 6.6E-02 0 0
CUI: C3150966
Disease: Supernumerary der(22)t(8;22) syndrome
Supernumerary der(22)t(8;22) syndrome 		4 0 4 6.6E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 10 6.5E-02 0 0
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		5 0 4 6.5E-02 0 0
CUI: C4021592
Disease: Unilateral primary pulmonary dysgenesis
Unilateral primary pulmonary dysgenesis 		5 0 4 6.5E-02 0 0
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		6 0 4 6.3E-02 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 5 6.3E-02 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		58 0 7 6.2E-02 0 0
CUI: C4025695
Disease: Right aortic arch with mirror image branching
Right aortic arch with mirror image branching 		7 0 4 6.2E-02 0 0