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: rs1555321367
rs1555321367 		1.000 14 28768138 stop gained A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 15 1989 2017
dbSNP: rs764343290
rs764343290 		1.000 0.120 14 28768302 stop gained C/G;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2010 2010
dbSNP: rs138747073
rs138747073 		0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267606827
rs267606827 		0.925 0.120 14 28768203 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267606827
rs267606827 		0.925 0.120 14 28768203 stop gained G/A snv
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs121913678
rs121913678 		1.000 0.120 14 28768044 stop gained G/A;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs138747073
rs138747073 		0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321237
rs1555321237 		1.000 0.120 14 28767493 stop gained C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321351
rs1555321351 		1.000 0.120 14 28768043 stop gained G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 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: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 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: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 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