FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease BEFREE Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. 31019990 2019
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease BEFREE Our findings identify a novel role of Foxg1 in SST-IN development and put new insights into the cellular basis of FOXG1 syndrome. 31237323 2019
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease BEFREE Mutations in human FOXG1 cause deficiencies in learning and memory and limit social ability, which is defined as FOXG1 syndrome, but its pathogenic mechanism remains unclear. 31253171 2019
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease BEFREE FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. 29289958 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease BEFREE We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like. 29321672 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease BEFREE FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. 28661489 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease GENOMICS_ENGLAND Emerging Monogenic Complex Hyperkinetic Disorders. 29086067 2017
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. 28851325 2017
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831 2014
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease BEFREE Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome" developmental disorder. 23956198 2013
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease BEFREE 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. 22968132 2013
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895 2012
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. 22739344 2012
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease BEFREE We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. 22739344 2012
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 Biomarker disease GENOMICS_ENGLAND Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. 21441262 2011
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. 21441262 2011
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease UNIPROT The forkhead box G1 (FOXG1)gene has recently been associated with the congenital variant of Rett syndrome, and so far 17 mutations have been reported. 21280142 2011
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 CausalMutation disease CLINVAR The forkhead box G1 (FOXG1)gene has recently been associated with the congenital variant of Rett syndrome, and so far 17 mutations have been reported. 21280142 2011
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
0.790 GeneticVariation disease UNIPROT Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010