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: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		25 2 12 0.15 1 5.3E-02
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 13 0.15 0 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		12 0 10 0.14 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 0 14 0.14 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 11 0.14 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 0 10 0.14 0 0
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		9 0 9 0.13 0 0
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		18 0 10 0.13 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 0.13 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		12 0 9 0.13 0 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 9 0.13 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 18 0.12 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 11 0.12 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 18 0.12 2 4.9E-02
CUI: C0032209
Disease: Platybasia
Platybasia 		18 0 9 0.12 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 9 0.12 0 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		18 0 9 0.12 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 18 0.12 0 0
CUI: C0020546
Disease: Hypertensive crisis
Hypertensive crisis 		19 0 9 0.12 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 15 0.12 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 11 0.11 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 26 0.11 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 10 0.11 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 24 0.11 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 9 0.11 0 0