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: C1837463
Disease: Narrow face
Narrow face 		87 0 19 0.13 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 11 0.13 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 13 0.13 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 14 16 0.12 1 5.6E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 26 0.12 0 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		10 0 9 0.12 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 25 0.12 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 18 0.12 0 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 10 0.11 0 0
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		17 0 9 0.11 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 9 0.11 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 10 0.11 0 0
CUI: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		8 0 8 0.11 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 6 22 0.11 1 1.0E-01
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		39 0 11 0.11 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 0 8 0.11 0 0
CUI: C4022386
Disease: Overfriendliness
Overfriendliness 		9 0 8 0.11 0 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		9 0 8 0.11 0 0
CUI: C4025898
Disease: Functional abnormality of male internal genitalia
Functional abnormality of male internal genitalia 		9 0 8 0.11 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 9 0.11 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 26 0.11 0 0
CUI: C0332606
Disease: Elfin facies
Elfin facies 		11 0 8 0.10 0 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		22 0 9 0.10 0 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		12 0 8 0.10 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 9 0.10 0 0