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: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 24 0.24 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 24 0.23 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 22 0.22 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 24 0.22 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 22 0.22 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 31 0.22 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 22 0.22 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 25 0.22 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 22 0.21 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 33 0.21 0 0
CUI: C0020546
Disease: Hypertensive crisis
Hypertensive crisis 		19 0 12 0.21 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 27 0.20 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 24 0.20 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 18 0.19 0 0
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		9 0 9 0.18 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 30 0.17 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 0.17 0 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		12 0 9 0.17 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		12 0 9 0.17 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 13 0.17 0 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 9 0.17 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 25 0.16 0 0
CUI: C4021737
Disease: Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents 		8 0 8 0.16 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 0 13 0.16 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 0 9 0.16 0 0