FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401 2015
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767 2015
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831 2014
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421 2014
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. 22998673 2012
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 21441262 2011
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. 20356955 2010
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142 2008
dbSNP: rs1555321345
rs1555321345
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Prospective observations on stopping prolonged venom immunotherapy. 2760358 1989