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: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 23 44 0.18 2 6.9E-02
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 22 0.18 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 34 0.17 0 0
CUI: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 17 0.17 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 18 0.16 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 19 0.16 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 24 0.13 1 4.5E-02
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 14 0.13 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 15 0.13 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 15 0.13 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 20 0.13 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 37 0.13 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 23 0.13 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 22 0.13 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 17 0.13 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		67 0 18 0.12 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 22 0.12 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 16 0.12 0 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		46 0 15 0.12 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		106 0 21 0.12 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 5 17 0.11 1 8.3E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 34 0.11 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 38 0.11 1 4.3E-02
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		15 0 11 0.11 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 16 0.11 0 0