Source: CURATED ×
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: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		9 0 7 0.78 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		5 0 3 0.33 0 0
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		5 0 3 0.33 0 0
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		2 0 2 0.29 0 0
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		2 0 2 0.29 0 0
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		4 0 2 0.22 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		4 0 2 0.22 0 0
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		10 0 3 0.21 0 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		10 0 3 0.21 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		5 0 2 0.20 0 0
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		5 0 2 0.20 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		1 0 1 0.14 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		1 0 1 0.14 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		1 0 1 0.14 0 0
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		1 0 1 0.14 0 0
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		1 0 1 0.14 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		1 0 1 0.14 0 0
CUI: C0272183
Disease: Qualitative abnormality of granulocyte
Qualitative abnormality of granulocyte 		1 0 1 0.14 0 0
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		1 0 1 0.14 0 0
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders 		1 0 1 0.14 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		1 0 1 0.14 0 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		1 0 1 0.14 0 0
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		1 0 1 0.14 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		1 0 1 0.14 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		1 0 1 0.14 0 0