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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 113 0.21 8 4.7E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 108 0.18 9 5.6E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 54 0.17 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 58 89 0.15 1 7.1E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 100 0.15 3 2.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 71 0.15 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 50 0.14 0 0
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		163 0 50 0.13 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 36 0.12 0 0
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		267 80 60 0.12 12 7.9E-02
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 39 0.12 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 56 0.12 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 54 0.12 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 69 0.12 1 6.2E-03
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 52 0.12 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 162 69 0.12 1 4.1E-03
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 34 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 72 0.12 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 104 0.12 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 103 0.12 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 91 0.11 1 4.2E-03
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 44 0.11 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 62 0.11 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 44 0.11 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 85 0.11 2 1.3E-02