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: C0009398
Disease: Color vision defect
Color vision defect 		94 0 27 9.4E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 34 9.3E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 64 9.2E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 29 9.2E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 29 9.1E-02 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 21 9.1E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 46 9.0E-02 2 7.5E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 33 8.8E-02 3 1.1E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 20 8.8E-02 1 3.7E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 25 8.7E-02 5 1.2E-02
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 19 8.6E-02 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 26 8.5E-02 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 25 8.5E-02 2 8.0E-03
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 4 19 8.4E-02 1 4.3E-03
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 4 19 8.4E-02 2 8.7E-03
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 32 8.3E-02 1 3.9E-03
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 19 8.3E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 23 8.2E-02 3 7.8E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 33 8.1E-02 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 2 21 8.0E-02 1 4.4E-03
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 21 7.8E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 72 7.7E-02 1 3.0E-03
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 18 7.7E-02 0 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		49 24 19 7.6E-02 4 1.6E-02
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 26 7.6E-02 0 0