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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 18 0.11 341 0.31
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		36 31 4 2.5E-02 24 2.4E-02
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		1 26 1 7.7E-03 24 2.4E-02
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		1 24 1 7.7E-03 24 2.4E-02
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		1 27 1 7.7E-03 23 2.3E-02
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		21 31 5 3.4E-02 22 2.2E-02
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		3 23 2 1.5E-02 22 2.2E-02
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		1 27 1 7.7E-03 22 2.2E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 15 6.9E-02 16 1.6E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 26 10 3.9E-02 12 1.2E-02
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		34 17 10 6.5E-02 11 1.1E-02
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 29 23 0.11 11 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 28 2.9E-02 11 9.7E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 11 1.8E-02 11 1.0E-02
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 6 3.9E-02 11 1.1E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 3 1.9E-02 11 1.1E-02
CUI: C0002940
Disease: Aneurysm
Aneurysm 		22 36 9 6.3E-02 10 9.6E-03
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		82 19 6 2.9E-02 9 8.8E-03
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		39 15 12 7.6E-02 7 6.9E-03
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 9 3.3E-02 6 5.9E-03
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		3 8 3 2.3E-02 6 5.9E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 16 4.0E-02 5 4.8E-03
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		149 6 15 5.7E-02 5 4.9E-03
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 10 3.2E-02 5 4.9E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 46 3.9E-02 4 3.7E-03