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: C3150966
Disease: Supernumerary der(22)t(8;22) syndrome
Supernumerary der(22)t(8;22) syndrome 		4 0 4 0.67 0 0
CUI: C0345065
Disease: Cervical aortic arch
Cervical aortic arch 		2 0 2 0.33 0 0
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		5 0 2 0.22 0 0
CUI: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		6 0 2 0.20 0 0
CUI: C0003910
Disease: Articulation Disorders
Articulation Disorders 		1 0 1 0.17 0 0
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		1 0 1 0.17 0 0
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		1 0 1 0.17 0 0
CUI: C1971810
Disease: Congenital cardiovascular disorder
Congenital cardiovascular disorder 		1 0 1 0.17 0 0
CUI: C2674407
Disease: Foveoschisis
Foveoschisis 		1 0 1 0.17 0 0
CUI: C2675369
Disease: Chromosome 22q11.2 Microduplication Syndrome
Chromosome 22q11.2 Microduplication Syndrome 		1 0 1 0.17 0 0
CUI: C3531771
Disease: Dextrotransposition of the great arteries
Dextrotransposition of the great arteries 		1 0 1 0.17 0 0
CUI: C4016770
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME 		1 0 1 0.17 0 0
CUI: C0152216
Disease: Esophoria
Esophoria 		2 0 1 0.14 0 0
CUI: C2674403
Disease: Scleral thickening
Scleral thickening 		2 0 1 0.14 0 0
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		2 0 1 0.14 0 0
CUI: C4733128
Disease: familial chordoma
familial chordoma 		2 0 1 0.14 0 0
CUI: C4744527
Disease: Temporal Lobe Pleomorphic Xanthoastrocytoma
Temporal Lobe Pleomorphic Xanthoastrocytoma 		2 0 1 0.14 0 0
CUI: C0155336
Disease: Esotropia with accommodative compensation
Esotropia with accommodative compensation 		3 0 1 0.12 0 0
CUI: C1266175
Disease: Parachordoma
Parachordoma 		3 0 1 0.12 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 2 0.12 0 0
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia 		3 0 1 0.12 0 0
CUI: C4304714
Disease: Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal rod response 		3 0 1 0.12 0 0
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		13 0 2 0.12 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		4 0 1 0.11 0 0
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		4 0 1 0.11 0 0