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: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 8 0.14 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 8 0.14 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 8 0.14 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 8 0.13 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 8 0.13 0 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		46 0 10 0.13 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 8 0.12 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 9 0.12 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 12 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: C3277753
Disease: Deep-set nails
Deep-set nails 		5 0 5 0.12 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 9 0.12 0 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		84 0 13 0.12 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 9 0.11 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 9 0.11 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 9 0.11 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 12 0.11 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 8 0.11 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 6 0.11 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 8 0.11 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 0 11 0.11 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 8 0.11 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		10 0 5 0.11 0 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		42 0 8 0.11 0 0