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: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 9 0.19 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 13 0.18 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 15 0.18 0 0
CUI: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		8 0 8 0.18 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 0 13 0.18 0 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		22 0 10 0.18 0 0
CUI: C4022386
Disease: Overfriendliness
Overfriendliness 		9 0 8 0.18 0 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		9 0 8 0.18 0 0
CUI: C4025898
Disease: Functional abnormality of male internal genitalia
Functional abnormality of male internal genitalia 		9 0 8 0.18 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 16 0.18 0 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 10 0.18 0 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		10 0 8 0.17 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 0 9 0.17 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 13 0.17 0 0
CUI: C0332606
Disease: Elfin facies
Elfin facies 		11 0 8 0.17 0 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		18 0 9 0.17 0 0
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 13 0.17 0 0
CUI: C0020546
Disease: Hypertensive crisis
Hypertensive crisis 		19 0 9 0.17 0 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		12 0 8 0.17 0 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		34 0 11 0.16 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 19 0.16 0 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		15 0 8 0.16 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 9 0.16 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 10 0.15 0 0
CUI: C0039621
Disease: Tetany
Tetany 		24 0 9 0.15 0 0