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: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 15 0.19 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 11 0.17 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 9 0.16 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 0.15 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 12 0.15 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 0.15 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 0.14 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 10 0.14 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 7 0.14 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 0.14 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 0.14 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 0.13 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 6 0.13 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 0.13 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 16 0.13 0 0
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		48 0 10 0.13 0 0
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		13 0 6 0.13 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 0.13 0 0
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		22 0 7 0.13 0 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		14 0 6 0.12 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 6 0.12 0 0
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		16 0 6 0.12 0 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		61 0 10 0.11 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 6 0.11 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 12 0.10 0 0