Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. 28851325

2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895

2012
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. 22739344

2012
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation 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
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation 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
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. 19564653

2010
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 19806373

2010
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 CausalMutation CLINVAR Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. 18571142

2008