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: C0581342
Disease: Redundant skin
Redundant skin
48 2 16 0.22 1 0.50
CUI: C0332606
Disease: Elfin facies
Elfin facies
11 0 9 0.21 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe
14 0 9 0.20 0 0
Atrophy/Degeneration involving the corticospinal tracts
8 0 8 0.20 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles
9 0 8 0.20 0 0
CUI: C4022386
Disease: Overfriendliness
Overfriendliness
9 0 8 0.20 0 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding
9 0 8 0.20 0 0
Functional abnormality of male internal genitalia
9 0 8 0.20 0 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon
10 0 8 0.19 0 0
Defective DNA repair after ultraviolet radiation damage
12 0 8 0.18 0 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa
12 0 8 0.18 0 0
CUI: C1837463
Disease: Narrow face
Narrow face
87 0 19 0.18 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
96 0 20 0.17 0 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney
15 0 8 0.17 0 0
Colon diverticulum anatomic structure
17 0 8 0.16 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta
17 0 8 0.16 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles
17 0 8 0.16 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 10 0.16 0 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum
18 0 8 0.16 0 0
CUI: C0751466
Disease: Phonophobia
Phonophobia
18 0 8 0.16 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat
11 0 7 0.16 0 0
CUI: C0034880
Disease: Hyperacusis
Hyperacusis
20 0 8 0.15 0 0
CUI: C0266298
Disease: Accessory kidney
Accessory kidney
20 0 8 0.15 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch
20 0 8 0.15 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 11 0.15 0 0