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: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 22 0.16 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 31 0.15 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 21 0.14 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 14 0.13 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 33 0.12 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 18 0.12 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 16 0.11 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 22 0.11 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 21 0.11 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 15 0.10 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 29 9.7E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 12 9.2E-02 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 0 38 9.2E-02 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 10 8.6E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 38 8.4E-02 0 0
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		100 0 14 7.4E-02 0 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		45 0 10 7.2E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 19 7.2E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 34 7.1E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 35 7.1E-02 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 8 7.0E-02 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 8 6.9E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 34 6.8E-02 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 8 6.4E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 14 6.4E-02 0 0