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: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		3 30 2 1.1E-02 19 0.17
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		1 11 1 5.6E-03 4 3.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 112 5.0E-02 3 4.6E-03
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		1 20 1 5.6E-03 3 2.5E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 22 6.2E-02 2 1.5E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 35 2.6E-02 2 4.6E-03
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 14 3 1.1E-02 2 1.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 28 4.8E-02 2 1.2E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 35 0.10 2 1.6E-02
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 3 11 4.7E-02 2 2.0E-02
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		2 81 1 5.5E-03 2 1.1E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 12 3 1.5E-02 2 1.8E-02
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 3 1.6E-02 2 1.9E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 12 4.6E-02 2 1.4E-02
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 4 2 1.1E-02 1 9.6E-03
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		26 1 1 4.9E-03 1 9.9E-03
CUI: C0009806
Disease: Constipation
Constipation 		424 57 32 5.6E-02 1 6.4E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 65 9 2.5E-02 1 6.1E-03
CUI: C0011071
Disease: Sudden death
Sudden death 		30 3 2 9.6E-03 1 9.7E-03
CUI: C0017639
Disease: Gliosis
Gliosis 		102 3 4 1.4E-02 1 9.7E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 39 6.4E-02 1 7.3E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 56 7.8E-02 1 5.6E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 11 1.7E-02 1 3.7E-03
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		6 3 1 5.4E-03 1 9.7E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 16 2.1E-02 1 4.8E-03