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: rs1555321337
rs1555321337 		1.000 0.120 14 28767992 missense variant 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: 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: rs1555321361
rs1555321361 		1.000 0.120 14 28768103 missense variant G/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
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: rs1555321402
rs1555321402 		0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555321402
rs1555321402 		0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1566445169
rs1566445169 		1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1566445489
rs1566445489 		1.000 0.120 14 28767982 missense variant 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: rs1566445533
rs1566445533 		1.000 0.120 14 28768042 missense variant T/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
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0