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 48 0.21 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 36 0.20 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 46 0.19 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 71 0.18 3 5.2E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 28 0.18 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 27 0.17 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 36 0.16 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		30 14 17 0.12 3 9.4E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 19 0.11 1 2.9E-02
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 0 16 9.5E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 14 9.5E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 23 9.3E-02 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 11 13 8.6E-02 1 3.2E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 21 8.6E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 19 8.4E-02 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 13 8.2E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 18 8.0E-02 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 12 7.9E-02 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 17 7.7E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 11 7.6E-02 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 50 7.2E-02 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 11 7.2E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 22 7.2E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 41 7.1E-02 2 2.4E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 23 7.1E-02 1 4.0E-03