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: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 54 0.24 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 54 0.24 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 39 0.22 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 79 0.20 1 2.0E-02
CUI: C1301937
Disease: Talipes
Talipes 		74 0 30 0.17 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 36 0.16 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 23 0.16 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 25 0.15 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 31 0.15 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 24 0.15 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 34 0.15 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 30 0.14 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 21 0.13 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 33 0.13 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 28 0.13 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 17 0.13 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 18 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 39 0.12 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 19 0.12 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 29 0.12 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 18 0.12 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 17 0.11 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 15 0.11 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 15 0.11 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 15 0.11 0 0