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 96 177 0.28 17 0.10
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 180 0.19 3 1.7E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 83 108 0.18 9 5.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 126 0.18 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 138 0.17 5 3.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 169 0.17 2 1.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 148 0.17 3 2.2E-02
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 58 119 0.17 6 4.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 127 0.16 5 3.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 143 0.16 1 4.1E-03
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 109 0.16 2 1.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 96 0.16 1 8.0E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 138 0.16 2 1.4E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 194 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 115 0.16 2 1.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 136 0.15 5 3.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 137 0.15 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 112 0.15 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 181 0.15 4 6.0E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 163 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 197 0.15 5 1.3E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 81 0.14 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 205 0.14 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 180 0.14 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 150 0.13 2 9.1E-03