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: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		10 0 10 1.00 0 0
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		7 0 3 0.21 0 0
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		2 0 2 0.20 0 0
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		2 0 2 0.20 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		9 0 3 0.19 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		5 0 2 0.15 0 0
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		5 0 2 0.15 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		1 0 1 1.0E-01 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		1 0 1 1.0E-01 0 0
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		1 0 1 1.0E-01 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		1 0 1 1.0E-01 0 0
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		1 0 1 1.0E-01 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		1 0 1 1.0E-01 0 0
CUI: C0272183
Disease: Qualitative abnormality of granulocyte
Qualitative abnormality of granulocyte 		1 0 1 1.0E-01 0 0
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		1 0 1 1.0E-01 0 0
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders 		1 0 1 1.0E-01 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		1 0 1 1.0E-01 0 0
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		1 0 1 1.0E-01 0 0
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		1 0 1 1.0E-01 0 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		1 0 1 1.0E-01 0 0
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		1 0 1 1.0E-01 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		1 0 1 1.0E-01 0 0
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		1 0 1 1.0E-01 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		1 0 1 1.0E-01 0 0
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		1 0 1 1.0E-01 0 0