Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606826
rs267606826
FOXG1
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia involving the central nervous system 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0014877
Disease: Esotropia
Esotropia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0013132
Disease: Drooling
Drooling 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0013421
Disease: Dystonia
Dystonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR