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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 17 0.15 8 0.24
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		16 0 5 0.12 0 0
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		7 0 4 0.12 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 4 0.11 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 9 0.11 7 1.5E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 11 0.11 7 0.24
CUI: C1969176
Disease: Hypoplastic pubic rami
Hypoplastic pubic rami 		3 0 3 1.0E-01 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 5 9.6E-02 0 0
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		16 0 4 9.5E-02 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 5 9.3E-02 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 8 9.2E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 5 9.1E-02 8 0.15
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 9 9.0E-02 0 0
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp 		7 0 3 8.8E-02 0 0
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		20 35 4 8.7E-02 1 2.0E-02
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		33 0 5 8.6E-02 0 0
CUI: C0266249
Disease: Gallbladder anomaly congenital
Gallbladder anomaly congenital 		8 0 3 8.6E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 11 6 8.6E-02 2 7.7E-02
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 29 11 8.5E-02 6 0.15
CUI: C1844592
Disease: Soft skin
Soft skin 		22 0 4 8.3E-02 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 24 4 8.2E-02 3 7.9E-02
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		10 0 3 8.1E-02 0 0
CUI: C0037205
Disease: Sirenomelia
Sirenomelia 		11 0 3 7.9E-02 0 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		25 0 4 7.8E-02 0 0
CUI: C0279557
Disease: Adenosquamous cell lung cancer
Adenosquamous cell lung cancer 		12 0 3 7.7E-02 0 0