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: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 14 0.22 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 15 0.19 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 12 0.12 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 8 16 0.12 1 9.1E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 12 0.12 0 0
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		14 0 7 0.12 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 7 0.12 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 0.11 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 19 0.11 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 13 0.11 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 20 0.11 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 0.11 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 20 0.11 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 0.11 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 0.11 0 0
CUI: C1857479
Disease: Short columella
Short columella 		20 0 7 0.11 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 12 0.11 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 7 0.10 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 0.10 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 6 0.10 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 0.10 0 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		67 0 11 0.10 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 1.0E-01 0 0
CUI: C0341059
Disease: Lip pit
Lip pit 		14 0 6 9.8E-02 0 0