FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
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: rs1555321367
rs1555321367 		1.000 14 28768138 stop gained A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405 		1.000 14 28768359 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462 		1.000 14 28767840 missense variant C/A;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 1989 2017
dbSNP: rs767961672
rs767961672 		0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2016 2016
dbSNP: rs1555321402
rs1555321402 		0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia involving the central nervous system 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C3150077
Disease: Mild short stature
Mild short stature 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		0.700 0
dbSNP: rs869312700
rs869312700 		0.925 0.200 14 28768100 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs879255530
rs879255530 		0.925 0.160 14 28767832 missense variant A/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796052462
rs796052462 		1.000 14 28767840 missense variant C/A;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 1989 2017