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: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 9 0.18 0 0
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		22 0 8 0.18 0 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		22 0 8 0.18 0 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		22 0 8 0.18 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 8 0.18 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 8 0.18 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 8 0.18 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 8 0.18 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 7 0.17 0 0
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		5 0 5 0.17 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 7 0.16 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 9 0.16 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		29 0 8 0.16 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 8 0.16 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 9 0.15 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 8 0.15 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 0 8 0.15 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 0.15 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 9 0.15 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 10 0.15 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 7 0.14 0 0
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		10 0 5 0.14 0 0
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis 		19 0 6 0.14 0 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		94 0 15 0.14 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 9 0.13 0 0