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: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 10 0.20 0 0
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		9 0 9 0.20 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 0.18 0 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		12 0 9 0.18 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		12 0 9 0.18 0 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		25 0 11 0.18 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 10 0.17 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 0 9 0.17 0 0
CUI: C0032209
Disease: Platybasia
Platybasia 		18 0 9 0.16 0 0
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		18 0 9 0.16 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 9 0.16 0 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		18 0 9 0.16 0 0
CUI: C0020546
Disease: Hypertensive crisis
Hypertensive crisis 		19 0 9 0.16 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 11 0.16 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 13 0.16 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 9 0.15 0 0
CUI: C0039621
Disease: Tetany
Tetany 		24 0 9 0.15 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 11 0.15 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 0 14 0.14 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 10 0.14 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 11 0.14 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 9 0.13 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 14 0.13 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 9 0.13 0 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		34 0 9 0.13 0 0