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: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 8 0.20 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 8 0.20 0 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		23 0 8 0.20 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 9 0.19 0 0
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.19 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 8 0.18 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 8 0.17 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 8 0.17 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		71 0 14 0.17 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 9 0.17 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 9 0.16 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 11 0.16 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 8 0.16 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 9 0.16 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.16 0 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		61 0 11 0.14 0 0
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		46 0 9 0.14 0 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		6 0 4 0.14 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 7 0.14 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 5 0.14 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 8 0.14 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 8 0.14 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 5 0.14 0 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 0 8 0.13 0 0
CUI: C0037293
Disease: Skin tag
Skin tag 		17 0 5 0.13 0 0