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: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		234 0 26 8.8E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 30 8.8E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 18 8.7E-02 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 9 8.4E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 32 8.4E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 24 8.4E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 24 8.3E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 9 8.2E-02 0 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		154 23 18 8.0E-02 1 3.6E-02
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		61 0 11 8.0E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 9 8.0E-02 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 9 7.8E-02 0 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		239 0 23 7.6E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 42 7.6E-02 2 3.3E-02
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		14 0 7 7.4E-02 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 10 7.4E-02 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 9 7.1E-02 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 9 7.0E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 14 6.9E-02 1 3.8E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 17 6.9E-02 0 0
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		37 0 8 6.8E-02 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 8 6.8E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 24 6.8E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 13 6.8E-02 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 0 11 6.8E-02 0 0