DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045510
rs797045510 		X 111410375 frameshift variant AA/- delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045512
rs797045512 		X 111410119 missense variant T/C snv
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045513
rs797045513 		X 111410083 inframe insertion -/GTA delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045514
rs797045514 		X 111410059 frameshift variant -/G delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045515
rs797045515 		X 111401167 frameshift variant A/- delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045518
rs797045518 		X 111400995 inframe insertion -/TCCATCCAGAGTGTA delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045519
rs797045519 		X 111410313 frameshift variant -/TAGGC delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045520
rs797045520 		X 111330974 frameshift variant -/T delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894780
rs104894780 		0.882 0.120 X 111401121 missense variant G/A snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894782
rs104894782 		0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs122457137
rs122457137 		0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs587783562
rs587783562 		0.882 0.080 X 111401139 missense variant G/A snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs56030372
rs56030372 		0.882 0.120 X 111401108 missense variant C/A;T snv 9.5E-06
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1998 2016
dbSNP: rs587783562
rs587783562 		0.882 0.080 X 111401139 missense variant G/A snv
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs104894780
rs104894780 		0.882 0.120 X 111401121 missense variant G/A snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894780
rs104894780 		0.882 0.120 X 111401121 missense variant G/A snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894782
rs104894782 		0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894782
rs104894782 		0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122457137
rs122457137 		0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122457137
rs122457137 		0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs56030372
rs56030372 		0.882 0.120 X 111401108 missense variant C/A;T snv 9.5E-06
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs56030372
rs56030372 		0.882 0.120 X 111401108 missense variant C/A;T snv 9.5E-06
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783562
rs587783562 		0.882 0.080 X 111401139 missense variant G/A snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894779
rs104894779 		0.925 0.120 X 111410215 missense variant C/T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894781
rs104894781 		0.925 0.120 X 111401322 missense variant A/G snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016