rs267606826, FOXG1

N. diseases: 38
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 CausalMutation CLINVAR
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
0.700 CausalMutation CLINVAR
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
0.700 CausalMutation CLINVAR
Mild short stature
CUI: C3150077
Disease: Mild short stature
0.700 CausalMutation CLINVAR
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR
Drooling
CUI: C0013132
Disease: Drooling
0.700 CausalMutation CLINVAR
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
0.700 CausalMutation CLINVAR
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.700 CausalMutation CLINVAR
Abnormal CNS myelination
CUI: C4021152
Disease: Abnormal CNS myelination
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 CausalMutation CLINVAR
Infra-orbital crease
CUI: C1857280
Disease: Infra-orbital crease
0.700 CausalMutation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 CausalMutation CLINVAR
Congenital phimosis
CUI: C0345326
Disease: Congenital phimosis
0.700 CausalMutation CLINVAR
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
0.700 CausalMutation CLINVAR
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
0.700 CausalMutation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 CausalMutation CLINVAR
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
0.700 CausalMutation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR
Aplasia/Hypoplasia involving the central nervous system
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
0.700 CausalMutation CLINVAR