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: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 8 0.14 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 19 0.13 0 0
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		22 0 8 0.13 0 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		22 0 8 0.13 0 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		22 0 8 0.13 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		23 0 8 0.13 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 8 0.13 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 8 0.13 0 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		6 0 6 0.13 0 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		6 0 6 0.13 0 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		6 0 6 0.13 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 9 0.13 0 0
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		43 0 10 0.13 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 11 0.12 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 8 0.12 0 0
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		17 0 7 0.12 0 0
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 6 0.12 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 10 0.12 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 10 0.12 0 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		46 0 10 0.12 0 0
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		28 0 8 0.12 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 8 0.12 0 0
CUI: C2931202
Disease: Urachal cancer
Urachal cancer 		19 0 7 0.12 0 0
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		112 10 17 0.12 2 0.11
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		29 2 8 0.12 2 0.20