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: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		1 20 1 5.6E-03 3 2.5E-02
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 3 11 4.7E-02 2 2.0E-02
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 3 1.6E-02 2 1.9E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 12 3 1.5E-02 2 1.8E-02
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 14 3 1.1E-02 2 1.8E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 35 0.10 2 1.6E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 22 6.2E-02 2 1.5E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 12 4.6E-02 2 1.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 28 4.8E-02 2 1.2E-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: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		26 1 1 4.9E-03 1 9.9E-03
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 5.6E-03 1 9.9E-03
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 1 1 5.5E-03 1 9.9E-03
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 1 1 5.4E-03 1 9.9E-03
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks 		2 1 1 5.5E-03 1 9.9E-03
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 5.6E-03 1 9.9E-03
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
Extra-axial cerebrospinal fluid accumulation 		2 1 1 5.5E-03 1 9.9E-03
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 5.6E-03 1 9.9E-03
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		5 1 1 5.4E-03 1 9.9E-03
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 1 1 5.6E-03 1 9.9E-03
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		3 1 2 1.1E-02 1 9.9E-03
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		6 1 2 1.1E-02 1 9.9E-03
CUI: C1843392
Disease: Death in childhood
Death in childhood 		25 2 3 1.5E-02 1 9.8E-03