FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606828
rs267606828
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895 2012
dbSNP: rs267606828
rs267606828
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		0.800 GeneticVariation UNIPROT A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142 2011
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142 2011
dbSNP: rs267606828
rs267606828
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		0.800 GeneticVariation UNIPROT Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010
dbSNP: rs267606828
rs267606828
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs1555321405
rs1555321405
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs1555321405
rs1555321405
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		CG 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. 28851325 2017
dbSNP: rs796052462
rs796052462
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs796052462
rs796052462
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814 2016
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178 2016
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358 2016
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630 2016
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178 2016
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358 2016
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630 2016
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630 2016
dbSNP: rs1555321367
rs1555321367
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358 2016