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: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 73 0.21 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 10 79 0.20 1 2.0E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 1 82 0.20 1 2.5E-02
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 81 0.20 4 8.3E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 21 71 0.18 3 5.2E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 123 0.18 1 1.3E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 171 0.16 1 6.1E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 129 0.16 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 66 0.16 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 131 0.16 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 142 0.16 1 7.8E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 142 0.15 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 121 0.15 1 8.6E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 87 0.14 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 88 0.13 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 56 0.13 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 75 0.13 1 1.6E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 54 0.13 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 157 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 92 0.13 2 2.0E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 49 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 83 0.12 1 1.4E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 77 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 55 0.12 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 51 0.12 0 0