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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 177 0.28 17 0.10
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		91 16 90 0.23 15 0.15
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 83 113 0.21 8 4.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 111 0.20 4 3.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 144 0.19 9 6.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 154 0.19 2 1.4E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 119 0.19 1 5.7E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 153 0.19 6 3.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 174 0.19 1 5.7E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 121 0.18 2 1.6E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 175 0.17 3 1.3E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 141 0.17 1 4.0E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 121 0.16 5 3.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 191 0.16 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 82 0.16 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 148 0.16 2 1.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 118 0.15 7 4.4E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 81 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 196 0.15 12 3.2E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 100 0.15 2 1.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 211 0.15 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 67 0.15 3 2.9E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 123 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 121 0.14 5 3.4E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 7 60 0.14 1 9.8E-03