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 0 36 0.18 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 11 48 0.18 1 3.2E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
225 0 46 0.15 0 0
CUI: C0241240
Disease: Tall stature
Tall stature
79 14 27 0.15 1 2.9E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
181 0 39 0.14 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
46 11 22 0.14 1 3.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 88 0.14 8 8.9E-02
Flexion contracture of proximal interphalangeal joint
168 7 36 0.14 1 3.7E-02
CUI: C1851712
Disease: Dural ectasia
Dural ectasia
16 0 16 0.12 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
80 9 23 0.12 1 3.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
272 0 43 0.12 0 0
Familial thoracic aortic aneurysm and aortic dissection
59 0 20 0.12 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 23 32 0.12 5 0.13
CUI: C0086437
Disease: Joint laxity
Joint laxity
224 15 37 0.12 2 5.9E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
225 12 37 0.12 2 6.5E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
82 19 22 0.12 2 5.3E-02
Aneurysm of descending thoracic aorta
15 0 15 0.12 0 0
CUI: C4022878
Disease: Descending aortic dissection
Descending aortic dissection
15 0 15 0.12 0 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal
16 0 15 0.12 0 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation
16 0 15 0.12 0 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery
26 0 16 0.12 0 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
39 0 17 0.11 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 55 0.11 4 8.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 62 0.11 5 6.2E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 25 31 0.11 3 7.0E-02