Source: CLINVAR ×
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: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		1 40 1 1.00 1 2.5E-02
CUI: C4022808
Disease: Cerebellar agenesis
Cerebellar agenesis 		1 0 1 1.00 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		3 0 1 0.33 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		3 0 1 0.33 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		6 0 1 0.17 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		12 0 1 8.3E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		13 0 1 7.7E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 0 1 5.9E-02 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 0 1 5.0E-02 0 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		21 0 1 4.8E-02 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 0 1 4.3E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 0 1 2.9E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.2E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.7E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.2E-03 1 2.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 1 3.3E-03 1 2.0E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0