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: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		22 0 8 0.15 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 9 0.15 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 10 0.15 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 11 0.15 0 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		7 0 6 0.15 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 8 0.15 0 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 8 0.15 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 8 0.15 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 8 0.15 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 8 0.15 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 8 0.13 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 10 0.13 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 8 0.13 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 13 0.13 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 0 10 0.13 0 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 7 0.13 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 4 10 0.13 1 0.11
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 0 6 0.12 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 8 0.12 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 0.12 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		5 0 5 0.12 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 14 0.12 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 13 0.12 0 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 0 9 0.12 0 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		61 0 11 0.12 0 0