rs267606826, FOXG1

N. diseases: 38
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Protruding ear
CUI: C1855285
Disease: Protruding ear
0.700 CausalMutation CLINVAR
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
0.700 CausalMutation CLINVAR
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.700 CausalMutation CLINVAR
Infra-orbital crease
CUI: C1857280
Disease: Infra-orbital crease
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
0.700 CausalMutation CLINVAR
Drooling
CUI: C0013132
Disease: Drooling
0.700 CausalMutation CLINVAR
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
0.700 CausalMutation CLINVAR
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
0.700 CausalMutation CLINVAR
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
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
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
0.700 CausalMutation CLINVAR
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
0.700 CausalMutation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
0.700 CausalMutation CLINVAR
Flaring of rib cage
CUI: C1854780
Disease: Flaring of rib cage
0.700 CausalMutation CLINVAR
Congenital phimosis
CUI: C0345326
Disease: Congenital phimosis
0.700 CausalMutation CLINVAR
FOXG1 syndrome
CUI: C3150705
Disease: FOXG1 syndrome
0.700 CausalMutation CLINVAR
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
0.700 CausalMutation CLINVAR
Abnormal CNS myelination
CUI: C4021152
Disease: Abnormal CNS myelination
0.700 CausalMutation CLINVAR